Birth defect 2014
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Birth defect 2014

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Prof Dr J P Soni

Prof Dr J P Soni
Dr Meenakshi Soni

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Birth defect 2014 Birth defect 2014 Presentation Transcript

  • PRE-EMBYRONIC STAG <4 WEEKS  First cell division 30 hours  Zygote reaches uterine cavity 4 days  Implantation 5-6 days  Bilminar disc 12 days  Lynozation of female 16days  Fromation of trilminar disc 19 days and primitive streak
  • Embryonic stage 4-12 weeks  ORGANOGENESIS 4-8 WEEKS  BRAIN & SPINAL CORD ARE FORMING 4 WKEEKS  FIRST SING OF HEART BEAT & LIMB BUDS 6 WEEKS  BRAIN,EYES, HEART & LIMBS – DEVELOP RAPIDLY  BOWEL AND LUNG BEGINNING TO DEVELOP  DIGITS APPEARED, EARS,KIDNEYS,LIVER & 8 WEEKS MUSCLES ARE DEVELOPING. PALATE CLOSES AND JOINT FORM 10 WEEKS SEXUAL DIFFERENTIATION ALMOST COMPLETE 12 WEEKS
  • Deformation External force causing distortion of an otherwise normal structure is called deformation Because of intrauterine crowding - as with multiple fetal pregnancy Amniotic fluid leakage Ex – Hip dislocation, Talipes equinovarus. Deformation carry good prognosis
  • Disruption Damage or dissolution of a part following normal development of body part Ex - Amniotic band, thromboembolic episode.
  • Dysplasia Morphological defects due to abnormal maturation and organization of cells into Tissue is known as dysplasia. Ectodermal dysplasia – abnormal skin, hair, nail and teeth. Skeletal dysplasia - spondyloepipyseal dysplasia
  • Malformation Morphological defects occur due to error in the normal development And differentiation of embryo is known as malformation. Type of malformation Sequence Syndrome Association 14% minor 3% two or >2 malformation 3% single major malformation 0.7% multiple malformation Minor malformation : they do not cause any function defect Major malformation : If malformation left uncorrected leads to Significant Impairment of body function
  • Sequence The chain of events resulting in multiple defect – Chronic leakage of amniotic fluid or less production of amniotic fluid leads To fetus compression – Potter sequence -squashed face, dislocation of hip talipes equinovarus, pulmonary hypoplasia. Pierre- Robin sequence- Microganthia, Tongue fall back and prevent closure palate, leading to cleft palate.
  • Syndrome Co-occurrence of several distinct abnormalities(group of features) definitely or presumably if caused by same etiological factor in all affected individuals Is known as syndrome.
  • Association Co-occurrence of group of malformations, more frequently Than expected by chance, without definite cause is called association. VATER - VERTEBRAL, anal, tracheal, oesophageal and renal CHARGE - coloboma, heart, atresia choanae, retarded growth, genital and ear malformation
  • FETAL STAGE >12 – 38 WEEKS  FETAL MOVEMENT 16-18 WEEKS  EYELIDS OPEN 24-26 WEEKS  FETUS VIABLE WITH SPECIAL CARE 24-26 WEEKS  RAPID WEIGHT GAIN 28-28 WEEKS
  • BIRTH DEFECT  A BIRTH DEFCT IS DEFIND AS THE MARCH OF DIMES IS “ FUNCTIONAL OR STRUCTURAL”, THAT PRESENT IN INFANCY OR LATER IN LIFE AND IS CAUSED BY EVENTS PRECEDING BIRTH WHETHER INHERITED OR ACQURIED.
  • BIRTH DEFECTS DEFINED AS AN ABNORMALITY OF THE BODY’ STRUCTURE OR INHERENT FUNCTION IN LIVE BORN FETUS, INTRAUTERINE FETAL DEMISES, STILL BIRTH AND IN MEDICALLY TERMINATED PREGNANCIES. WHICH IS PRESENT AT BIRTH , WHETHER SUCH ABNORMALITY IS MANIFEST AT THE DELIVERY OR BECOME APPARENT LATER IN LIFE.
  • BIRTH DEFECT 1. Congenital malformation :- It is a primary structural defect arising from a localised error in morphogenesis,resulting in the abnormal formation of a tissue or organ. 2. Disruption : :- It is a structural defect resulting from the destruction of a structure that had formed normally before the insult such as - ischemia, infection & trauma. 3. Deformation : is a defect resulting from an abnormal mechanical forces that distorts an otherwise normal structure. 4. Dysplasia: is an abnormal orgination of cells into tissue. Most dysplasia are cause by sinle gene defects & are associated with high recurrence risk for sibling &/or offspring
  •  It is estimated that 1 in 40 or 2.5% of new born have a recongisable malformations at birth.  In a about half of case a single isolated malformations and other half display multiple malformations.  It is estimated that 10% of paediatric hospital admission have a non-genetic condition, 18% have congenital defect of unknown etiology and 40% have surgical admission are patient with congenital malformations.  20-30% of infant death and 30-50% death after the neonatal period are due to congenital abnormalities.  When several malformation occurred in a single individual they are classified a syndrome, sequences or association.
  • 3. Deformation :- It is an alteration in shape or structural of a structure or organ that has differentiated normally. Uterine compression Intrinsic Oligohydramnios Uterine hypertonia Multiple foetuses Large fetus Uterine deformities (biocornate) Extrinsic Small pelvis Bony lumbar spines Increased abdominal tone Abnormal fetal posture (including breech) Abnormal fetal Muscular tone Increased mechanical forces Fetal constraint Deformations Craniofacial Extremity Other Scaphocephaly Dislocated hips Torticollis Plagiocephaly Metatarsus adductus Lung hypoplasia Mandibular asymmetry Equinovarus foot Scoliosis Flattened facies Calcaneovalgus foot Deviated nasal septum Tibial bowing Crumpled ear Hyperflexed hips Craniostenosis Hyperextended knees Contractures Internal tibial torsion
  • DEATHS DUE TO BIRTH DEFECTS • CHROMOSOMAL • CNS • RESPIRATORY • CHD 28% 15% 15%12%
  • What causes birth defects? Birth defects have a variety of causes, such as: Genetic problems -caused when one or more genes doesn't work properly or part of a gene is missing Problems with chromosomes- such as having an extra chromosome or missing part of a chromosome Environmental factors- that a woman is exposed to during pregnancy, such as rubella or German measles while pregnant, or using drugs or alcohol during pregnancy.
  • • GENETIC – CHROMOSOMAL ANOMALY • MATERNAL ILLNESS ,DRUGS AND INFECTION • MULTIFACTORIAL• SPORADIC 40-60% 20-25% 12-25%10-13%
  • MOLECULAR MECHANISMS OF MALFORMATIONS: Inborn Errors of Development The gene mutation in malformation syndrome are key factor for development events. Gene mutation Environmental agent Teratogenes Transduction pathway Transcription pathway Regulatory Protein Development Events
  • Genetic factors A gene is a tiny, invisible unit containing information (DNA) that guides how the body forms and functions. Each child gets half of its genes from each parent, arranged on 46 chromosomes. Genes control all aspects of the body, how it works, and all its unique characteristics, including eye color and body size. Genes are influenced by chemicals and radiation, but sometimes changes in the genes are unexplained accidents. In each pair of genes, one will take precedence (dominant) over the other (recessive) in determining each trait, or characteristic. Birth defects caused by dominant inheritance include a form of dwarfism called achondroplasia; high cholesterol; Huntington's disease, a progressive nervous system disorder; Marfan syndrome, which affects connective tissue; some forms of glaucoma, and polydactyly (extra fingers or toes).
  • If both parents carry the same recessive gene, they have a one-in-four chance that the child will inherit the disease. Recessive diseases are severe and may lead to an early death. They include sickle cell anemia, a blood disorder that affects blacks, and Tay-Sachs disease, which causes mental retardation in people of eastern European Jewish heritage. Two recessive disorders that affect mostly are: cystic fibrosis, a lung and digestive disorder, and phenylketonuria (PKU), a metabolic disorder. If only one parent passes along the genes for the disorder, the normal gene received from the other parent will prevent the disease, but the child will be a carrier. Having the gene is not harmful to the carrier, but there is the 25% chance of the genetic disease showing up in the child of two carriers.
  • Some disorders are linked to the sex-determining chromosomes passed along by parents. Hemophilia, a condition that prevents blood from clotting, and Duchenne muscular dystrophy, which causes muscle weakness, are carried on the X chromosome. Genetic defects can also take place when the egg or sperm are forming if the mother or father passes along some faulty gene material. This is more common in older mothers. The most common defect of this kind is Down syndrome, a pattern of mental retardation and physical abnormalities, often including heart defects, caused by inheriting three copies of a chromosome rather than the normal pair.
  • A less understood cause of birth defects results from the interaction of genes from one or both parents plus environmental influences. These defects are thought to include: Cleft lip and palate, which are malformations of the mouth Clubfoot, ankle or foot deformities. Spina bifida, an open spine caused when the tube that forms the brain and spinal chord does not close properly. Water on the brain (hydrocephalus), which causes brain damage. Diabetes mellitus, an abnormality in sugar metabolism that appears later in life. Congenital Heart defects
  • DRUGS (TERATOGENS) Only a few drugs are known to cause birth defects, but all have the potential to cause harm. Thalidomide is known to cause defects of the arms and legs. Steroid cleft lip & palate Lithium Ebstein’s anomaly Retinoic acid Conotruncal anomaly Valproic acid Coarctation of forta,HLHS,PA Carbamazepin,valporic acid Spina bifida radiation Microcephaly, spina bifida, blindness,cleft palate Drugs Birth defects Hyperthermia Spina bifida Warfarin Hypoplastic nasal bone,skeletal dysplasia Vitamin D Supravuvular aortic stenosis D penacillamine Cutis laxa syndrome
  • The enzyme 5,10-methylenetetrahydrofolate reductase (MTHFR) is responsible for converting folic acid to 5-methyltetrahydrofolate. 5- methyltetrahydrofolate serves as a methyl group donor in the conversion of homocysteine to methionine. This methylation is important in providing carbon units to rapidly dividing cells and the synthesis of nucleotide bases. Thus, folic acid deficiency would result in a neural tube defect. Moreover, if there is a mutation in the gene regulating MTHFR, homocysteine will not get converted to methionine and affected individuals will have neural tube defect. Increase folic acid intake can overcome the neural tube defect due to genetically mediated enzyme deficiency.
  • Now with control of infections in neonates, BIRTH DEFECTS are becoming an important cause of perinatal mortality in india. If perinatal mortility is to be reduced further one should reduce birth defects at an early stage that is when fetus is in the age of nonsurvival or by planning birth of such babies at tertiary care centres dedicated for care of such babies. THIS IS POSSIBLE BY FETAL MEDICINE.
  • E.g. Sonic Hedgehog as model :- The SHH pathway is developmentally important during embryogeneous to induce controlled proliferation in a tissue specific manner, disruption of specific steps in this pathway results in a variety of related developmental disorder and malformation. 1Sonic Hedgehog of 2Cleavage N-Shin Cholesterol N-Shin-Chol Holoprosencephaly1 Microcephaly Mental retardation Failure of CNS lateralization Hypotelorism ti Smith-Lemil-Opitz Syndrome2 Microcephaly Mental retardation Short, Upturned nose Hypospadias Post axial prolydactyly Pallister-Hall Syndrome3 Hypothalamic hamartoma Short, upturned nose Central and postaxial polydactyly Bild epiglottis Greig Greig Cephalopolysyndactyly syndrome4 Macrocephaly Hypertelorism Pre and postaxial polydactyly Rubinstein-Taybi Syndrome5 Microcephaly Mental retardation Prominent beaked nose Broad thumbs Hirsutism GLI-1 GLI-2 4GLI-3.5CBP GLI1 PTC1 Twist HNF3β
  • The birth defects are groups according to ICD-10 classification: (Q00-Q07) nervous system, (Q10-Q18) eye, ear, face and neck, (Q20-Q28) circulatory system, (Q30-Q34) respiratory system, (Q35-Q37) cleft lip and cleft palate, (Q38-Q45) digestive system, (Q50-Q56) genital organs, (Q60-Q64) urinary system, (Q65-Q79) musculoskeletal system, (Q80-Q89) other defects and (Q90-Q99) chromosomal abnormalities, not elsewhere classified.
  • Nervous system: (740) Anencephalus and similar anomalies (740.0) Anencephalus (741) Spina bifida (742) Other congenital anomalies of nervous system (742.1) Microcephalus (742.3) Hydrocephalus
  • TYPES OF CONGENITAL MALFORMATIONS 1. Central Nervous System • Neural Tube defects • Spina bifida • Meningocele • Meningomyelocele • Encephalocele • Anencephaly • Hydrocephalus and ventriculomegaly • Holoprosencephaly • Agenesis of the corpus collosum • Dandy-Walker complex • Microcephaly • Megalencephaly • Destructive cerebral lesions • Arachnoid cysts • Choroid plexus cysts • Vein of Galen aneurysm 2. Face • Orbital defects • Facial cleft • Micrognathia • Ear defects
  • 3. Cardiovascular system • Atrial septal defects • Ventricular septal defects • Atrioventricular septal defects • Univentricular heart • Aortic stenosis • Coarctation and tubular hypoplasia of the aorta • Interrupted aortic arch • Hypoplastic left heart syndrome • Pulmonary stenosis and pulmonary atresia • Ebstein’s anomaly and tricuspid valve dysplasia • Conotruncal malformations • Transposition of the great arteries • Tetralogy of Fallot • Double-outlet right ventricle • Truncus arteriosus communis • Cardiosplenic syndromes • Echogenic foci
  • 4. Pulmonary abnormalities • Cystic adenomatoid malformation • Diaphragmatic hernia • Pleural effusions • Sequestration of the lungs 5. Anterior abdominal wall • Exomphalos • Gastroschisis • Body stalk anaomaly • Bladder exstrophy and cloacal exstrophy 6. Gastrointestinal tract • Esopageal atresia • Duodenal atresia • Intestinal obstruction • Hirschsprung’s disease • Meconium peritonitis • Hepatosplenomegaly • stenosis and imperforate • Hepatic calcifications • Abdominal cysts
  • 7. Kidneys and urinary tract • Renal agenesis • Infantile polycystic Kidney disease (Potter type I) • Multicystic dysplastic kidney disease (Potter type II) • Potter type III renal dysplasia • Obstructive uropathies 8. Skeleton • Skeletal anomalies • Osteochondrodysplasias • Limb deficiency or congenital amputations • Split hand and foot syndrome • Clubhands • Polydactyly • Fetal akinesia deformation sequence (FADS) 9. Hydrops fetalis
  • How we should approach for detection of Congenital Malformations ? CLINICAL EVALUATION 1.By History :- (i) Pedigree analysis (ii) Parental ages at the time of conception (iii) Parental consanguinity (iv) History of abortions (v) Still birth and exposure to the drug teratogens (vi) Maternal disorders and infections
  • 2. By Examinations :- A good observation is essential to recognize the malformations. (i) The defects produced due to an abnormality of a development of a body part early in the prenatal life eg. Cleft lip and palate and polydactyly and holoprosencephaly. (ii) Anthropometry is important as is the measurement of any other relevant dysmorphic feature eg. Hypo/hypertelorism, low set ears etc. (iii) Look for the presence of abnormal genitalia or delayed puberty e.g. Smith Lemi Optiz syndrome, Tumer syndrome etc. (iv) Look for the presence of abnormal genitalia or delayed puberty, e.g. Smith Lemi Optiz syndrome, Tumer syndrome etc.
  • INVESTIGATIONS:- 1. Chromosomal analysis :- • Karyotype analysis e.g. Down syndrome • Fluorescent in situ hybridization (F.I.S.H.) e.g. William syndrome, Prader Willi syndrome, Angelman syndrome, Velocardiofacial syndrome. • PCR studies • Micro-array technology 2. Imaging studies (CT, MRI) e.g. CNS malformations 3. Echo done in all cases of Down syndrome and velocardio facial syndrome. 4. Metabolic study particularly in (amino acids and organic acids) e.g. like Mucopolysaccharidosis, Zellweger syndrome, Smith Lemli Opitz syndrome
  • (v) Psychomotor delay, speech delay or mental retardation are common feature many syndrome e.g. down syndrome, Fragile-X syndrome. (vi) Examination of presence of hearing loss and abnormalities of the eye are essential in dysmorphogical examination. It provides diagnostic clues for some syndromes like chorioretinal lacunae in Aicardi syndrome, Brusfield spots in Down syndrome. (vii) Some clinical features suggest a specific diagnosis. These features have been termed as
  • “Pearls of Dysmorphology” by Hall?  Pursed up lips – Whistling face syndrome  Broad thumbs/great toes – Rubinstein Taybi syndrome, Pfeiffer syndrome.  Radial ray defects – Holt Oram syndrome, Thrombocytopenia absent radius syndrome, Fanconi anemia.  Absent clavicles – Cleidocranial dysostosis.  Heterochromia iridis – Waardenburg syndrome  Mitten hands – Apert syndrome  Inverted nipples – Congenital disorder of glycosylation.  Webbing of the neck – Turner and Noonan syndromes.  Eversion of the lateral third of the lower eyelid – Kabuki Make-up syndrome.  Hyper extensibility of skin and joins – Ehlers Danlos syndrome.
  • CNS AT 7 WEEKS FLUID FILLED VESICLE SEEN – ROMBENCEPHALIC VESICLE AT 9 WEEKS CONVULATED PATTERN OF THE THREE PRIMARY CEREBRAL VESICLE IS VISIBLE. AT 11 WEEKS BRIGHT ECHOGENIC CHOROID PLEXUS FILL LARGE LATERAL VENTRICLES.
  • A simple classification of anomalies of brain & spine is as follows: Failure of dorsal induction: 1. Anomaly of cranial development failure: Anaencephaly, cephalocele Chiari malformation Dysraphism 2.Anomaly of ventral induction failure: Holoprosencephalies Facial abnormalities Posterior fossa malformation: Dany –Walker malformation,Joubert syndrome , Rhomboenvephalosynapsis. 3.Failure of histogenesis, neuronal proliferatio, migration & organization Disorder of sulcation & cell migration: lissencephalic & nonlissencephalic dysplasia. Gray mater hetrotropia Cortical dysplasia- schizencephaly Abnormalities of corpus callosum Phakomatosis -
  • • RECURRENCE RISK IF ONE PARENT OR PREVIOUS SIB HAVE NTD • RECURRENCE RISK IN NEXT SIB • ENCEPHALOCELE • ANENCEPHALY • SPINA BIFIDA 95% 5% 5-10%2-4/1000
  • NEURAL TUBE DEFECTS RACHICHISIS SEVERE FORM OF SPINA BIFIDA. INCOMPATIBLE WITH LIFE MENINGOMYELOSIS COMMON TYPE FEW SEGMENT BIFID SPINA BIFIDA OCCULTA ONLY BONE BIFID TELL-TALE SIGN MAY BE SEEN
  • CNS malformation 1. NEURAL TUBE DEFECTS Classification A.Primary NTD -95 % failure of closure of neural tube at 17 to 28 days of gestation -Meningomyelocele -Encephalocele -Anencephaly B.Secondary NTD -5% occurs after neural tube closure due to defect in mesoderm. -meningocele -Lipomeningocele -Diastometomyelia -Dorsal sermal sinus - Tethered cord
  • Etiology of NTD 1. Multifactorial inheritance 2. Maternal risk factor alcohol, radiation, valproate, methotraxate 3. Genetic MTHFR, gene defect 4. Chromosomal abnormality Trisomy 13 & 18 PREVENTION  Folate supplementation 0.4mg/day to all mothers 1 month before to 3 months of pregnancy.  If there is any previous affected child than give 5mg/day. - prenatal diagnosis in subsequent pregnancy by MSAFP estimation and fetal ultrasound at 12 week and 16-20 week of gestation.
  • SPINA BIFIDA ASSOCITED SIGN LEMON SIGN BANANA SIGN FETAL THERAPY: IN UTERO CLOSURE OF SPINA BIFIDA REDUCES RISK OF HANDICAP; BECAUSE AMNIOTIC FLUID IN THIRD TRIMESTER IS NEUROTOXIC
  • Spina Bifida Occulta :-  This is a midline defect of vertebral bodies without protrusion of the spinal cord or meninges.  Most individuals are asymptomatic and lack neurologic sign.  In some cases, patch of hair, lipoma, discoloration of skin, dermal sinus in the midline of lower back suggest a more significance malformations of spinal cord.  A Spine X-ray shows a defect in closure of posterior vertebral arches and laminae, typically involve in L5 and S1.  It is occasionally associated with more significant developmental abnormalities of the spinal cord, including syringomyelia,  Diastematomyelia and tethered cord.  These are the best identified with MRI.  A dermoid sinus usually forms a small skin opening, which lead to narrow duct, some time indicated by protruding hairs, hairy patch or vascular nervus.  Demoid sinus occur in the midline at the sight of meningocele or enencephalocele may occur.  Demoid sinus tracts may pass through the dura, acting age conduit for the spread of infection.
  • Meningocele ASSOCITED SIGN LEMON SIGN BANANA SIGN FETAL THERAPY: IN UTERO CLOSURE OF SPINA BIFIDA REDUCES RISK OF HANDICAP; BECAUSE AMNIOTIC FLUID IN THIRD TRIMESTER IS NEUROTOXIC
  • Meningocele ASSOCITED SIGN LEMON SIGN BANANA SIGN FETAL THERAPY: IN UTERO CLOSURE OF SPINA BIFIDA REDUCES RISK OF HANDICAP; BECAUSE AMNIOTIC FLUID IN THIRD TRIMESTER IS NEUROTOXIC
  • Meningocele ASSOCITED SIGN LEMON SIGN BANANA SIGN FETAL THERAPY: IN UTERO CLOSURE OF SPINA BIFIDA REDUCES RISK OF HANDICAP; BECAUSE AMNIOTIC FLUID IN THIRD TRIMESTER IS NEUROTOXIC
  • Meningocele ASSOCITED SIGN LEMON SIGN BANANA SIGN FETAL THERAPY: IN UTERO CLOSURE OF SPINA BIFIDA REDUCES RISK OF HANDICAP; BECAUSE AMNIOTIC FLUID IN THIRD TRIMESTER IS NEUROTOXIC
  • .  Meningocele :- It is formed when the meninges herminate through a defect in the posterior vertebral arches. A functuant midline mass that may transilluminate occurs along the vertebral column, usually in the lower back. Asymptomatic children with normal neurological finding and fullthickness skin covering may have surgery delayed. Those patients with leaking CSF should under go immediate surgery.
  • MYELOMENINGOCELE It is the most severe form of dysraphism involving the vertebral column. Incidence = 1/4000 live births. Treatment :- Management and supervision of a child and family myelomeningocele require a multidisciplinary team including surgeon, physician, therapisis. Surgery is often done within a day or so of birth but can be delay for several days when there is a CSF leak. Prognosis :- For a child who is born with a myelomeningocele and who is treated aggressively mortality 10-15%.
  • ENENCEPHALOCELE :-  Two major forms of dysraphism affect the skull, resulting in protrusion of tissue through a bony midline defect, called cranium bifidum.  A cranial meningocele consists of CSF filled meningeal sac only, and a cranial encephalocele contain the sac + cereberal cortex, cerebellium, portions of the brainstem.  This defects occur most commonly in the ocipital region but in certain part of world, frontal or nasofrontal enencephalocele are more prominent. Meckel-Gruber syndrome is a rare autosomal recessive condition that is characterized by occipital enencephalocele, cleft lip or palate, microcephaly, microphthalamia, abnormal genitalia, polycystic kidney and polydactyly. Diagnosis MRI & CT Scan :- Maternal serum alpha fetoprotein level and ultrasound measurement of BPD as well as identification of enencephalocele in utero .
  • ANENCEPHALY 40% MORTILITY OCCUR DURING NEONATAL PERIOD. 80 % OF THE SURVIVAL WILL BE INTELLECTUALY AND NEUROLOGICALLY HADICAP 50% ARE ASSOCIATED WITH SPINA BIFIDA
  • ANENCEPHALY 40% MORTILITY OCCUR DURING NEONATAL PERIOD. 80 % OF THE SURVIVAL WILL BE INTELLECTUALY AND NEUROLOGICALLY HADICAP 50% ARE ASSOCIATED WITH SPINA BIFIDA
  • ANENCEPHALY :-  It is distinctive appearance with a large defect of calvarium, meninges and scalp associated with a rudimentary brain, which results from failure of closure of the rostral neuropore the opening of the anterior neural tube.  The incidence – 1/1000 live births. The most anenecephalic infants die within several days of birth.  The recurrence risk is 4% and increase to 10% if a couple has had two previously affected pregnancies.  Approximately 50% of cases of anencephaly have associated polyhydraminos. Diagnosis :- Couples who have had an anencephalic infant should have successive pregnancy monitored, including amniocentesis, determination of AFP levels and ultrasound examination between the 14th and 16th week of gestation.
  • HYDROCEPHALUS AND VENTRICULOMEGALY In hydrocephalus there is pathological increase in the size of the cerebral ventricles. Prevalence Hydrocephalus is found in about 2 per 1,000 births. Ventriculomegaly (lateral ventricle diameter of 10 mm or more) is found in 1% of pregnancies at the 18-23 week scan. Therefore the majority of fetuses with ventriculomegaly do not develop hydrocephalus. Etiology This may result from chromosomal and genetic abnormalities, intrauterine hemorrhage or congenital infection, although many cases have as yet no clear-cut etiology. Diagnosis Fetal hydrocephalus is diagnosed sonographically, by the demonstration of abnormally dilated lateral cerebral ventricles.
  • Prognosis Fetal or perinatal death and neurodevelopment in survivors are strongly related to the presence of other malformations and chromosomal defects. Although mild, also referred to as borderline, ventriculomegaly is generally associated with a good prognosis,
  • HOLOPROSENCEPHALYPREVALENCE : 1/10,000 BIRTHand occurs with a rate of 1 in 250 during embryogenesis There are three classifications of holoprosencephaly. Alobar, in which the brain has not divided at all, is usually associated with severe facial deformities. Semilobar, in which the brain's hemispheres have somewhat divided, causes an intermediate form of the disorder. Lobar, in which there is considerable evidence of separate brain hemispheres, is the least severe form. In some cases of lobar holoprosencephaly the baby's brain may be nearly normal.
  • HOLOPROCENCEPHALYCAUSES: A variety of teratogens, chromosomal abnormalities (in 25-50% of cases), and single gene mutations can result in holoprosencephaly. Trisomy 13 (in about 40% of cases) and trisomy 18 are the most frequently identified chromosomal anomalies. Many single-gene disorders (18-25%) can result in syndromes with a variable incidence of holoprosencephaly. Examples include Pallister-Hall, Rubinstein-Taybi, Kallmann, Smith-Lemli-Opitz, Meckel, hydrolethalus, pseudotrisomy 13, and microtia -anotia syndromes. Maternal diabetes has been implicated in about 1% of cases. RECURRENCE RISK 6% ALOBAR &SEMILOBAR -LETHAL LOBAR : MR
  • ABSENT SEPTUM PELLUCIDUM Absence of the septum pellucidum is reported to be an unusual anomaly that occurs in an estimated 2 to 3 individuals per 1 00,000 people in the general population Absence of the SP alone is not a disorder but is instead a characteristic noted in children with septo-optic dysplasia. The prognosis for individuals with septo-optic dysplasia varies according to the presence and severity of symptoms
  • AGENESIS OF THE CORPUS CALLOSUM PREVALENCE : 5/1000 BIRTH Agenesis of the corpus callosum is caused by disruption to development of the fetal brain between the 5th and 16th week of pregnancy CAUSES: However, research suggests that some possible causes may include chromosome errors, inherited genetic factors, prenatal infections or injuries, prenatal toxic exposures, structural blockage by cysts or other brain abnormalities, and metabolic disorders. Some syndromes that frequently include ACC are Aicardi syndrome, Miller-Dieker syndrome (MDLS; 247200), Rubinstein-Taybi syndrome (RSTS; 180849), acrocallosal syndrome (ACLD; 200990), and Joubert syndrome (JBTS; 213300). Andermann syndrome, Shapiro syndrome, Acrocallosal syndrome,septo-optic dysplasia (optic nerve hypoplasia), Mowat-Wilson syndrome and Menkes syndrome.
  • DANDY WALKER SYNDROME PREVALENCE: 1/30,000 CAUSES: LOW RECURRENCE RISK 1-5% 13 & 18 TRISOMIES TRIPLOIDY 50 GENETIC SYNDROME CONGENITAL INFECTION WARFARIN 20 NEONATAL MORTILITY 50% INTELLECTUAL AND NEUROLOGICAL HANDICAP.
  • DANDY WALKER SYNDROMEThere are, at present, three types of Dandy-Walker complexes. They are divided into three closely associated forms: The DWS malformation is the most severe presentation of the syndrome. The posterior fossa is enlarged and the tentorium is in high position. There is partial or complete agenesis of the cerebellar vermis. There is also cystic dilation of the fourth ventricle, which fills the posterior fossa. This often involves hydrocephaly and complications due to associated genetic conditions, such as Spina Bifida. Mega cisterna magna The second type is a mega cisterna magna . The posterior fossa is enlarged but it is secondary to an enlarged cisterna. This form is represented by a large accumulation of CSF in the cisterna magna in the posterior fossa. The cerebellar vermis and the fourth ventricle are normal. .
  • DANDY WALKER SYNDROME The fourth ventricle is only mildly enlarged and there is mild enlargement of the posterior fossa. The cerebellar vermis is hypoplastic and has a variably sized cyst space. This is caused by open communication of the posteroinferior fourth ventricle and the cisterna magna through the enlarged vallecula. Patients exhibit hydrocephalus in 25% of cases and supratentorial CNS variances are uncommon, only present in 20% of cases. There is notorcular- lambdoid inversion, as usually seen in patients with the malformation. The third and lateral ventricles as well as the brain stem are normal.
  • ARNOLD CHIARI MALFORMATION Incidence : The Chiari malformation, defined as tonsilar herniations of 3 to 5 mm or greater The incidence is approximately 1 in 1,200.The incidence of symptomatic Chiari is less but unknown. A prevalence of approximately in 1000 has been described. The Austrian pathologist Hans Chiari in the late 1800s described seemingly related anomalies of the hindbrain, the so called Chiari malformations I, II and III. Later, other investigators added a fourth (Chiari IV) malformation. The scale of severity is rated I - IV, with IV being the most severe. Types III and IV are very rare
  • Type Presentation Other notes I Is generally asymptomatic during childhood, but often manifests with headaches and cerebellar symptoms. Herniation of cerebellar tonsils. The most common form. II Usually accompanied by a myelomeningocele leading to partial or complete paralysis below the spinal defect. Abnormal development of the cerebellar vermis and medulla oblongata occur, and they both descend into the foramen magnum. Hydrocephalus is frequently present. III Causes severe neurological defects. It is associated with an encephalocele IV Characterized by a lack of cerebellar development.[ The brainstem, cranial nerves, and the lower portion of the cerebellum may be stretched or compressed. Therefore, any of the functions controlled by these areas may be affected. The blockage of Cerebro-Spinal Fluid (CSF) flow may also cause a syrinx to form, eventually leading to syringomyelia. Chiari is often associated with major headaches, sometimes mistaken for migraines. Chiari headaches usually include intense pressure in the back of the head, aggravated by Valsalva maneuvers, such as yawning, laughing, crying, coughing, sneezing or straining. Chiari also includes muscle weakness, facial pain, hearing problems, and extreme fatigue. It also can cause insomnia cycles of sleep deprivation followed by inabilities to remain awake cycling between them. 15% of patients with adult Chiari malformation are asymptomatic
  • Treatment Once symptomatic onset occurs, a common treatment is decompression surgery,[14] in which a neurosurgeon usually removes the lamina of the first and sometimes the second or even third cervical vertebrae and part of the occipital bone of the skull to relieve pressure. The flow of spinal fluid may be accompanied by a shunt. Since this surgery usually involves the opening of the dura mater and the expansion of the space beneath, a dural graft is usually applied to cover the expanded posterior fossa. A small number of neurological surgeons believe that detethering the spinal cord as an alternate approach relieves the compression of the brain against the skull opening (foramen magnum), obviating the need for decompression surgery and associated trauma. However, this approach is significantly less documented in the medical literature, with reports on only a handful of patients. It should be noted that the alternative spinal surgery is also not without risk. Prognosis The prognosis differs dependent on the type of malformation (i.e., type I, II, III, or IV). Type I is generally adult-onset and, while not curable, treatable and non-fatal. Types I and II sufferers may also develop syringomyelia. Type II is typically diagnosed at birth or prenatally. Approximately 33% of individuals with Chiari II malformation develop symptoms of brainstem damage within five years; a 1996 study found a mortality rate of 33% or more among symptomatic patients, with death frequently occurring due to respiratory failure. 15% of individuals with Chiari II malformation die within two years of birth. Among children under two who also have myelomeningocele, it is the leading cause of death. Prognosis among children with Chiari II malformation who do not have spina bifida is linked to specific symptoms; the condition may be fatal among symptomatic children when it leads to neurological deterioration, but surgical intervention has shown promise. Types III and IV are extremely rare and patients generally do not survive past the age of two or three
  • ARNOLD CHIARI MALFORMATION Arnold Chiari Malformation:- Type I –It is usually not associated with hydrocephalus patient complain of headache,neck pain,urinary frequency and progressive lower extremity spasticity.The deformity consist of displacement of cerebellar tonsil into cervical canal. Although pathogenesis is unknown, a theory suggest that obstruction of caudal portion of the IV ventrical during fetal development is responsible. Type II :-It is charactarised by progressive hydrocephalus with a myelomeningocele, pointing of frontal horn & colpocephaly (dialted occipital horn) .This lesion represent and anomaly of hindbrain probably due to failure of pontine flexure during embriyogenesis,and result in elongation of the IV ventrical and kinking of the brainstem with displacement of inferior vermis,pons,medulla into cervical canal.This anomaly is treated by surgical decompression.
  • ARNOLD CHIERI MALFORMATION Type III - in this there is high cervical encephalo- meningocele: in which the medulla, 4TH ventricle, and entire cerebellum reside.
  • AQUEDUCTAL STENOSISCongenital: Some patients are born with a congenitally narrow or completely obstructed aqueduct. In complete, this usually presents as pediatric hydrocephalus. However, if the obstruction is more minor, the patient may be asymptomatic or may not present until older age. The obstruction can appear as a general narrowing of the aqueduct or can appear as small webs or rings of tissue across the channel. Post-Infectious or Post-Hemorrhage: Infection in the cerebrospinal fluid or hemorrhage into the ventricles from other causes can occasionally lead to scarring that creates webs or rings that cause aqueductal stenosis and block flow through the aqueduct. Idiopathic Acquired: Some patients present in adulthood with the new onset or gradual onset of hydrocephalus. In many cases it is unclear what the underlying cause of the stenosis was and is considered idiopathic
  • ARACHNOID CYSTArachnoid cysts are fluid-filled cysts contained within the arachnoid space. Prevalence : Arachnoid cysts are extremely rare. Etiology :Unknown; infectious process has been hypothesized but it is unlikely that this may explain the congenital cysts. Diagnosis : Arachnoid cysts appear on antenatal ultrasound as sonolucent lesions with a thin regular outline, that do not contain blood flow, do not communicate with the lateral ventricles and anyhow are not associated with loss of brain tissue. They occur most frequently in the area of the cerebral fissure and in the midline. . Prognosis : Large cysts may cause intracranial hypertension and require neurosurgical treatment. However, a normal intellectual development in the range of 80- 90% is reported by most series. Spontaneous remission has been described both in the postnatal as well as in the antenatal period.
  • CHOROID PLEXUS CYSTPrevalence : Choroid plexus cysts are found in about 2% of fetuses at 20 weeks of gestation but in more than 90% of cases they resolve by 26 weeks. Etiology : Choroid plexus cysts contain cerebrospinal fluid and cellular debris. Diagnosis :The diagnosis is made by the presence of single or multiple cystic areas (greater than 2 mm in diameter) in one or both choroid plexuses. Prognosis :They are usually of no pathological significance, but they are associated with an increased risk for trisomy 18 if maternal age >35years, serum beta hCG > 0.3MoM, nuchal fold >6mm, echogenic bowel, hydronephrosis and cyst > 10 mm and possibly trisomy 21. In the absence of other markers of trisomy 18 the maternal age-related risk is increased by a factor of 1.5. The choroid plexus cyst < 10 mm sometime disappear spontaneously.
  • VEIN OF GALEN MALFORMATION Vein of Galen aneurysm is a very rare abnormality. Prevalence : Vein of Galen aneurysm is a sporadic abnormality. Diagnosis : The diagnosis is made by the demonstration of a supratentorial mid-line translucent elongated cyst. Prognosis : In the neonatal period about 50% of the infants present with heart failure and the rest are asymptomatic. In later life hydrocephalus and intracranial hemorrhage may develop. Good results can be achieved by catheterization and embolization of the malformation.
  • LISSENCEPHALY Lissencephaly, which literally means smooth brain, is a rare brain formation disorder caused by defective neuronal migration during the 12th to 24th weeks of gestation, resulting in a lack of development of brain folds (gyri) and grooves (sulci). It is a form of cephalic disorder. Terms such as 'agyria' (no gyri) or 'pachygyria' (broad gyri) are used to describe the appearance of the surface of the brain. Affected children display severe psychomotor retardation, failure to thrive, seizures, and muscle spasticity or hypotonia.[
  • LISSENCEPHALY Other symptoms of the disorder may include unusual facial appearance, difficulty in swallowing, and anomalies of the hands, fingers, or toes. The diagnosis of lissencephaly is usually made at birth or soon after by ultrasound, computed tomography (CT), or magnetic resonance imaging (MRI).
  • category type Classical (type 1) LIS: Lissencephaly due to PAFAH1B1 gene mutation Type I isolated lissencephaly (601545 Miller –dicker syndrome(247200) LI SX : lissencephaly due to double cortin(DCX) gene mutation(330121) Lissencephaly type I without genetic disorder Cobblestone (type 2) Walker –Warburg syndrome(236670) Fukuyama syndrome (253800) Muscle Eye Brain disease (MEB)253280 other LIS2: Norman –Robert syndrome 253280 LIS3: TUBA1A, 611603 LISX2 : ARX, 300215 MICRO-LISSENCEPHALY
  • DESTRUCTIVE CEREBRAL LESIONS Prevalence : Destructive cerebral lesions are found in about 1 per 10,000 births. These lesions include hydranencephaly porencephaly and schizencephaly .
  • HYDRANENCEPHALY hydranencephaly there is absence of the cerebral hemispheres with preservation of the mid-brain and cerebellum. Complete absence of echoes from the anterior and middle fossae distinguishes hydranencephaly from severe hydrocep’ Prognosis Hydranencephaly is usually incompatible with survival beyond early infancyhalus .
  • PORENCEPHALY In porencephaly there are cystic cavities within the brain that usually communicate with the ventricular system, the subarachnoid space or both. Etiology : Porencephaly may be caused by infarction of the cerebral arteries or hemorrhage into the brain parenchyma. Diagnosis : In true porencephaly there is one or more cystic areas in the cerebral cortex, which communicates with the ventricle while in pseudo porencephalic cyst cavity donot communictes with ventricle. Prognosis : The prognosis in porencephaly is related to the size and location of the lesion and although there is increased risk of impaired neurodevelopment in some cases development is normal
  • SCHIZENCEPHALY Schizencephaly is associated with clefts in the fetal brain connecting the lateral ventricles with the subarachnoid space. Etiology : Schizencephaly may be a primary disorder of brain development or it may be due to bilateral occlusion of the middle cerebral arteries. Dignosis : In schizencephaly there are bilateral clefts extending from the lateral ventricles to the subarachnoid space, and is usually associated with absence of the cavum septum pellucidum. Prognosis : Schizencephaly is associated with severe neurodevelopmental delay and seizures.
  • ENCEPHALOMALACIA Cystic encephalomalacia an irregular cystic area in the brain parenchyma which is characterised by the presence of multiple glial septations surrounded by astrocytic proliferation. This may be caused by infarction, infection or trauma. They may be focal or diffuse and their distribution will depend on the cause and severity of the injury and the post conceptual age of the patient. Encephalomalacia caused by infarction may be in the distribution of a major cerebral artery.
  • ENCEPHALOMALACIA If the injury is caused by mild to moderate hypotension the areas of encephalomalacia may lie in the boundary zones between the major cerebral arteries, whereas severe hypotension may result in widespread cystic encephalomalacia with sparing of the deep periventricular white matter only. The presence of reactive astrocytosis and glial septations distinguishes cystic encephalomalacia from an area of porencephaly and indicates that the injury occurred late in gestation, in the perinatal period, or after birth
  • CHOROID PLEXUS PAPILLOMA Guerard described the first CPP in a 3-year-old girl in 1832, and Perthes described the first successful surgical removal in 1910. The male-to-female incidence ratio of CPP is 2.8 : 1. CPPs are rare, comprising less than 1% of brain tumors in patients of all ages. However, CPPs most often occur in children and constitute up to 3% of childhood intracranial neoplasms with a predilection for younger ages. CPPs comprise 4-6% of the intracranial neoplasms in children younger than 2 years and 12-13% of intracranial neoplasms in children younger than 1 year.
  • Circulatory system (745) Bulbus cordis anomalies and anomalies of cardiac septal closure (745.4) Ventricular septal defect (745.5) Atrial septal defect (746) Other congenital anomalies of heart (747) Other congenital anomalies of circulatory system (747.1) Coarctation of aorta (747.11) Interruption of aortic arch (747.2) Other congenital anomalies of aorta (747.3) Congenital anomalies of pulmonary artery (747.4) Congenital anomalies of great veins (747.5) Absence or hypoplasia of umbilical artery (747.6) Arteriovenous malformation, unspec. (747.8) Other specified anomalies of circulatory system (747.81) Arteriovenous malformation of brain (746.82) Cor triatriatum (746.83) Infundibular pulmonic stenosis congenital (746.84) Congenital obstructive anomalies of heart not elsewhere classified (746.85) Coronary artery anomaly congenital (746.86) Congenital heart block (746.87) Malposition of heart and cardiac apex (747.89) Other specified congenital anomalies of heart Brugada syndrome (747.9) Unspecified congenital anomaly of circulatory system
  • CONGENITAL HEART DISEASES 80-90% CHD’S LOW RISK PREGNANCIES MJORITY OF THEM ARE PRIMI 9% INFANT MORTILITY IN U.K. DUE – C.H.D. SIX TIME MORE COMMON THAN TRISOMIES 21,18,13 FOUR TIMES MORE COMMON THAN NEURAL TUBE DEFECTS PREVALENCE 8/1000 LIVE BIRTH 30/1000 STILL BIRTH
  • FIRST ORGAN TO BE FUNCTIONAL IN HUMAN BEING - HEART CARDIOGENESIS TWO POOL OF CARDIAC PRECURSORS SECOND FIELD DEVELOP INTO RV, OFT, SINUS VENOSUS FIRST FIELD DVELOPS INTO RA,LA, LV
  • Primitive heart tube 21-22days Looping of heart 22-24days Development of IAS 30days Development of IVS 28-days Formation of AV Valve Formation of outflow septum & tract
  • STREETER’S HORIZONS STAGES (CVS DEVELOPMENT) 22 24 26 28 30 32 34 36 38DAYS OF LIFE HEART PULSAION SINO – ATRIAL FORAMEN *CIRCUL ATION *AV CUSHION *D.V. *3ARCHES •P.VS. •PA -6 •AORTA 4 ARCH PVS->LA *RV,LV *AV NODE O.P.>CL *O.SEC. *RV-6A *LV-4A TA- SEPTATION S.CUSP TV MV IVS NERVE IVS
  • GENETIC ASPECT OF THE CHDs • 40%• 100% • 80%• 40-50% 21 T 13 T OX18 T
  • VENRICULAR SEPTAL DEFECT 2/1000 ATRIAL SEPTAL DEFECT 1/3000 AORTIS STENOSIS 1/7000 PULMONARY STENOSIS 1/1000 PULMONARY ATRESIA 1/10,000 d – TRANSPOSITION OF GREAT ARTERIES 1/5000 TETRALOGY OF FALLOT’S 1/3000 DOUBLE OUTLET RIGHT VENTRCLE 1/10,000 TRUNCUS ARTERIOSUS 1/10,000 CARDIO SPLENIC SYBDROME 1/10,000 CHD 30% 10% 3% 0.1% 0.01% 2%
  • OVERALL RECURRENCE RISK IN CHDs % GENERAL POPULATION 1 SIBS OF ISOLATED CASE 2 OFFSPRING OF ISOLATED CASE 3 TWO AFFECTED SIBS ( SIB +PARENT) 10 > TWO AFFECTED FIRST DEGREE RELATIVE 50 MOTHER WITH CHD 10 FATHER WITH CHD 2
  • VENTRICULAR SEPTAL DEFECT 30% OF CHD’S 2/1000 BIRTH 50% V.S.D. ARE ISOLATED PERIMEMBRANOUS 80% INLET V.S.D. MUSCULAR V.S.D. OUTLET V.S.D. 90 SMALL V.S.D. CLOSE SPONTANEOUSLY. SURGICAL OUT COME IS GOOD
  • ATRIAL SEPTAL DEFECT 1/3000 BIRTH 10% OF ALL CHD’S F.OVALE 3% A.S.D. SECONDUM (ABOVE F.OVALE) A.S.D. PRIMUM (BELOW F. OVALE) A.S.D. SINUS VENOSUS CORONARY SINUS A.S.D.; A rare type A.S.D. in which coronary sinu and left atrium open partially or completely unroofed , leading to left to right shunt. 50% with A.S.D. Have other associated other cardiac defects. ? DIFICULT TO DIAGNOSED ANTENATALLY
  • COARCTATION OF AORTA PREVALENCE : 0.2-O.3 /1000 LIVE BIRTHS 8TH COMMON CARDIAC DEFECT MORE IN MALES AS COMPARE TO FEMALES Types :1. Uncomplicated COA beyond infancy 2.Uncomplicated COA in neonates/infants with /without V.S.D. 3. COA with MS/MR 4. COA with bicuspid aortic valve / aortic stenosis 5. Interrupted aortic arch 6.Atypical COA SHONE COMPLEX : COA,AS,MS & HYPOPLASTI LEFT VENTRICLE
  • PULMONARY STENOSIS PREVALENCE : Pulmonary stenosis : 1/2000 live births. Pumonary atresia : 1/10,000live births. 5th common CHD’S 50% patients with PS had associated CHD’S. Ballloon dilatation is indicated when PPG is 30 mmHg across pulmonary valve. Dysplastic p. valve: noonsyndrome. Peripheral branch stenosis : Rubella syndrome
  • FETAL AORTIC STENOSIS 3% OF ALL CHD’S 1/7000 BIRTH TYPE SUPRA VALVULAR :  MEMBRANE LOCALIZED NARROWING DIFFUSE NARROWING VALVULAR  BICUSPID AORTIC VALVE DYSPLASTIC AORTIC VALVE. SUBVALVULAR FETAL VALVUAL AORTIC = STENOSIS
  • PATENT DUCTUS ATERIOSUS PREVALENCE : O.138-O.8/1000 LIVE BIRTHS Eighty percent (80%) of the DA in term infants close by 48 hours and nearly 100% by 96 hours. Failure of the ductus arteriosus to close within 48-96 hours of postnatal age results in a left to right shunt across the ductus and overloading of the pulmonary circulation. A hemodynamically significant shunt due to PDA has been reported in 40% of infants less than 1000 grams and 20% of infants between 1000-1500 grams Initial Indomethacin. 0.2 mg/kg stat followed by age adjusted doses: Subsequent dose < 2 day- 0.1 mg/kg/dose 12 hourly for 2 doses 2-7 day- 0.2 mg/kg/dose 12 hourly for 2 doses 7 day- 0.25 mg/kg/dose 12 hourly for 2 doses. Ibuprofen : 10 mg/kg stat followed by 5 mg/kg/dose 24 hourly for 2 doses PULMONARY ARTERY DAO
  • SINGLE VENTRICLE1.5 % OF ALL CHD’S Univentricular heart includes both those cases in which two atrial chambers are connected, by either two distinct atrioventricular valves or by a common one, to a main ventricular chamber (double-inlet single ventricle) as well as those cases in which, because of the absence of one atrioventricular connection (tricuspid or mitral atresia), one of the ventricular chambers is either rudimentary or absent. Surgical treatment (the Fontan procedure) involves separation of the systemic circulations by anastomosing the superior and inferior vena cava directly to the pulmonary artery. GALEN SHUNT FONATAN PROCEDURE COMPLICATIONS : ARRHYTHMIA THROMBUS FORMATION PROTEIN LOOSING ENTERO PATHY
  • CONGENITAL MITRAL STENOSIS Congenital MS is rare, occurring in 0.5% of patients with congenital heart disease (CHD) Congenital MS, a rare entity, takes several forms. These include hypoplasia of the mitral valve annulus, mitral valve commissural fusion, double orifice mitral valve, shortened or thickened chordae tendinae, and parachute mitral valve, in which all chordae attach to a single papillary muscle. The most common associated malformations arecoarctation of the aorta, aortic valve stenosis, and subvalvular aortic stenosis. LA LA
  • CONGENITAL MITRAL ATRESIA The association of multiple levels of left- sided inflow and outflow tract obstruction is termed the Shone complex. Severe hypoplasia, or atresia, of the mitral valve results in a hypoplastic LV cavity size that is not capable of sustaining the systemic cardiac output. This situation is considered part of the spectrum of the hypoplastic left heart syndrome
  • ATRIO – VENTRICULAR SEPTAL DEFECT PREVALENCE : 7% OF ALL CHD’S 1/3000 LIVE BIRTHS 50% of cases are associated with aneuploidy, 60% being trisomy 21, 25% trisomy 18 ( associated with extra-cardiac anomalies) or in fetuses with cardiosplenic syndromes associated with multiple cardiac anomalies and abnormal disposition of the abdominal organs are almost the rule. Diagnosis : Antenatal echocardiographic diagnosis of complete atrioventricular septal defects is usually easy. The incomplete forms are more difficult to recognize.
  • ATRIO – VENTRICULAR SEPTAL DEFECT Prognosis : Atrioventricular septal defects do not impair the fetal circulation per se. However, the presence of atrioventricular valve insufficiency may lead to intrauterine heart failure. About 50% of untreated infants die within the first year of life from heart failure, arrhythmias and pulmonary hypertention due to right-to- left shunting (Eisenmenger syndrome). Survival after surgical closure, which is usually carried out in the sixth month of life, is more than 90%. But in about 10% of patients a second operation for atrioventricular valve repair or replacement is necessary. Long-term prognosis is good.
  • d - TRANSPOSITION OF GREAT ARTERIESPREVALENCE : 0.24/1000 LIVE BIRTHS(1/5000) 2ND MOST COMMON CHD’S ENCOUNTERED IN INFANCY & REQUIRE TRANSFER TO TERTIARY CARE CENTER WITHIN FIRST TWO WEEK OF LIFE. TYPE OF TGA  Those with intact ventricular septum with or without pulmonary stenosis,  Those with ventricular septal defects and  Those with ventricular septal defect and pulmonary stenosis. Diagnosis : Complete transposition is probably one of the most difficult cardiac lesions to recognize in utero. In most cases the four-chamber view is normal, and the cardiac cavities and the vessels have normal PROGNOSIS :Surgery which involves arterial switch to establish anatomic and physiological correction, is usually carried out within the first two weeks of life.. . P.A. LA
  • TETRALOGY OF FALLOT’S Prevalence : 3-26/10.000 live births. Mutation : NKX2,5 for 4% TOF Deletion of human TBX1 ; chromosome 22q11.2, for 15% TOF Trisomy 21 ,18,13 for 10% TOF. Thus in 70% TOF is genetic etiology remains to be determine. Anatomical lesion :Underdevelopment of pulmonary infundibulum, subaortic V.S.D., overriding of aorta and right ventricular hypertrophy 61% simple TOF 33% pulmonary atresia 3% absent pulmonary valve 3% common atrio-ventricular canal Tetralogy of Fallot It is the most common cyanotic heart defect, representing 55-70%, and the most common cause of blue baby syndrome. It was described in 1672 by Niels Stensen, in 1773 by Edward Sandifort, and in 1888 by the French physician Étienn-Louis Arthur Fallot, for whom it is named
  • TETRALOGY OF FALLOT’S When severe pulmonic stenosis is present, cyanosis tends to develop immediately after birth. With lesser degrees of obstruction to pulmonary blood flow the onset of cyanosis may not appear until later in the first year of life. Diagnosis : Echocardiographic diagnosis of tetralogy of Fallot relies on the demonstration of a ventricular septal defect in the outlet portion of the septum and an overriding aorta. There is an inverse relationship between the size of the ascending aorta and pulmonary artery, with a disproportion that is often striking. A large aortic root is indeed an important diagnostic clue. Prognosis : Cardiac failure is never seen in fetal life as well as postnatally.
  • TETRALOGY OF FALLOT’S Even in cases of tight pulmonary stenosis or atresia, the wide ventricular septal defect provides adequate combined ventricular output, while the pulmonary vascular bed is supplied in a retrograde manner by the ductus. . When there is pulmonary atresia, rapid and severe deterioration follows ductal constriction. Survival after complete surgical repair (which is usually carried out in the third month of life) is more than 90% and about 80% of survivors have normal exercise tolerance.
  • TRUNCUS ARTERIOSUS 7% OF ALL CHD’S 1/10,000 BIRTH 30% HAVE EXTRACARDIAC MALFORMATION TRUNCUS IS CONNECTED TO : 40% RGIHT VENTRCLE 20% LEFT VENTRICLE 40% TO BOTH VENTRICLE TYPE :  I : MAIN PA CONNECTED TO TA II : PA BRANCH FROM LATERAL ASPECT OF TRUNCUS III: PA BRANCH FROM POSTERIOR ASPECT OF TA. IV : NO PA; LUNG GETS BLOOD SUPLLY FROM – AORTIC COLATERALS
  • DOUBLE OULET RIGHT VENTRICLE7% OF ALL CHD’S PREVALENCE : 1/10,000 BIRTH In double-outlet right ventricle (DORV) most of the aorta and pulmonary valve arise completely or almost completely from the right ventricle. The relation between the two vessels may vary, ranging from a Fallot-like to a TGA-like situation (the Taussig- Bing anomaly). Pulmonary stenosis is very common in all types of DORV, but left outflow obstructions, from subaortic stenosis to coarctation and interruption of the aortic arch, can also be seen. Diagnosis : Prenatal diagnosis of DORV can be reliably made in the fetus but differentiation from other conotruncal anomalies can be very difficult. PROGNOSIS: Since the fetal heart works as a common chamber where the blood is mixed and pumped, DORV is not associated with intrauterine heart failure. RV PA AO LA IVS LA
  • TRICUSPID ATRESIA Prevalence : 0.057/live births 2.6% 0f all CHD’S Classification: Type I :Normally related both great arteries (70%) Type I A : NO VSD , PA Type I B : small VSD ,PS Type I C : large VSD no PS Type II d –TGA (27%) Type II A : NO VSD , PA Type II B : small VSD ,PS Type II C : large VSD no PS Type III : l – TGA (3%) ECG : LAD WITH LVH Procedure : Surgical treatment (the Fontan procedure) involves separation of the systemic circulations by anastomosing the superior and inferior vena cava directly to the pulmonary artery. GAENN SHUNT at 6months FONATAN PROCEDURE at 2 years of age.
  • TRICUSPID ATRESIA Prevalence : 0.057/live births 2.6% 0f all CHD’S Classification: Type I :Normally related both great arteries (70%) Type I A : NO VSD , PA Type I B : small VSD ,PS Type I C : large VSD no PS Type II d –TGA (27%) Type II A : NO VSD , PA Type II B : small VSD ,PS Type II C : large VSD no PS Type III : l – TGA (3%) ECG : LAD WITH LVH Procedure : Surgical treatment (the Fontan procedure) involves separation of the systemic circulations by anastomosing the superior and inferior vena cava directly to the pulmonary artery. GAENN SHUNT at 6months FONATAN PROCEDURE at 2 years of age.
  • TRICUSPID ATRESIA Prevalence : 0.057/live births 2.6% 0f all CHD’S Classification: Type I :Normally related both great arteries (70%) Type I A : NO VSD , PA Type I B : small VSD ,PS Type I C : large VSD no PS Type II d –TGA (27%) Type II A : NO VSD , PA Type II B : small VSD ,PS Type II C : large VSD no PS Type III : l – TGA (3%) ECG : LAD WITH LVH Procedure : Surgical treatment (the Fontan procedure) involves separation of the systemic circulations by anastomosing the superior and inferior vena cava directly to the pulmonary artery. GAENN SHUNT at 6months FONATAN PROCEDURE at 2 years of age.
  • TOTAL ANOMALOUS PULMONARY VENOUS RETURN 12 MOST COMMON CARDIAC DEFECT 2.6% OF ALL CHD’S PREVALENCE : 0.056/1000LIVE BIRTHS TYPE : SUPRA CARDIAC :PVS DRAIN INTO LEFT INNOMINATE VEI, LEFT SVC OR AZYGOUS VEIN CARDIAC : PVS DRAIN INTO RIGHT ATRIUM OR CORONARY SINUS INFRACARDIAC: PVS DRAIN INTO PORTAL VEIN, DUCTUS VENOSUS AND HEPATIC VEIN MIXED:
  • RUPTURE OF SINUS OF VALSALVA Sinus of Valsalva aneurysm comprises approximately 0.1- 3.5% of all congenital cardiac anomalies. Discovery in the pediatric age group is unusual.Congenital sinus of Valsalva aneurysm was first described by Hope. The 3 sinuses of Valsalva are located in the most proximal portion of the aorta, just above the cusps of the aortic valve. The sinuses correspond to the individual cusps of the aortic valve. Aneurysm of a sinus of Valsalva is a rare congenital cardiac defect that can rupture, causing heart failure or other catastrophic cardiac events. If the aneurysm remains unruptured, it occasionally causes obstruction of cardiac flow resulting from compression of normal structures. Aneurysms typically develop as a discrete flaw in the aortic media within one of the sinuses of Valsalva. Aneurysms most often involve the right aortic sinus (67-85% of patients, often associated with a supracristal ventricular septal defect), followed by the noncoronary sinus, whereas an aneurysm of the left sinus is rare.
  • RUPTURE OF SINUS OF VALSALVA Distortion and prolapse of the sinus and aortic valve tissue can lead to progressive aortic valve insufficiency. Unruptured aneurysm may cause distortion and obstruction in the right ventricular outflow tract. Distortion and compression may also cause myocardial ischemia (by coronary artery compression) and, possibly, heart block (by compressing the conduction system). Rupture may occur into any chamber, although rupture most commonly occurs into the aortic right ventricular communication. Rupture into the right atrium is the second most common, in association with a noncoronary cusp aneurysm. Rupture may occur less commonly into the left-sided chambers, the pulmonary artery, and rarely extends into the pericardium. RSOVs are commonly "wind- sock"-like, with a broader aortic end, ADO is best suited for this defect, although other Amplatzer devices
  • ALCPA ALCAPA or Blannd-Garland-White syndrome is a rare congenital anomaly with incidence of 1 in 3 lac live births, accounting for 0.25% of congenital heart disease. Wesselhoeft et al. classified the clinical spectrum of ALCAPA as follows: 1. Infantile Syndrome : This is the most common form. Patient develops acute episode of respiratory insufficiency, cyanosis, irritability and profuse sweating. Most of them die within two years.
  • ALCPA 2. Mitral Regurgitation : It is characterised by mitral regurgitation murmur, congestive heart failure, cardiomegaly and atrial arrythmias in children, adolescent and adults. 3. Syndrome of Continuous Murmur : This occurs in asymptomatic patients with angina pectoris. A continuous murmur results from great volume of blood flowing through collateral branches between right and left coronary arteries. 4. Sudden Death in Adolescents or Adults : Most of the patients are asymptomatic, but some may experience angina on exertion, cardiac arrhythmias and sudden death.
  • EBSTEIN’S ANOMALY TRICUSPID VALVE Ebstein disease Prevalence : 0.012-0.06/1000 live births Ebstein's may be associated with trisomy 13, 21, Turner, Cornelia de Lange and Marfan syndromes. Maternal ingestion of lithium has also been incriminated as a causal factor Ebstein's anomaly results from a faulty implantation of the tricuspid valve. The posterior and septal leaflets are elongated and tethered below their normal level of attachment on the annulus or displaced apically, away from the annulus, down to the junction between the inlet and trabecular portion of the right ventricle. . Associated anomalies include atrial septal defect, pulmonary atresia, ventricular septal defect, and supraventricular tachycardia.
  • EBSTEIN’S ANOMALY TRICUSPID VALVE Ebstein disease Prevalence : 0.012-0.06/1000 live births Ebstein's may be associated with trisomy 13, 21, Turner, Cornelia de Lange and Marfan syndromes. Maternal ingestion of lithium has also been incriminated as a causal factor Ebstein's anomaly results from a faulty implantation of the tricuspid valve. The posterior and septal leaflets are elongated and tethered below their normal level of attachment on the annulus or displaced apically, away from the annulus, down to the junction between the inlet and trabecular portion of the right ventricle. . Associated anomalies include atrial septal defect, pulmonary atresia, ventricular septal defect, and supraventricular tachycardia.
  • EBSTEIN’S ANOMALY Ebstein disease Prevalence : 0.012-0.06/1000 live births Ebstein's may be associated with trisomy 13, 21, Turner, Cornelia de Lange and Marfan syndromes. Maternal ingestion of lithium has also been incriminated as a causal factor Ebstein's anomaly results from a faulty implantation of the tricuspid valve. The posterior and septal leaflets are elongated and tethered below their normal level of attachment on the annulus or displaced apically, away from the annulus, down to the junction between the inlet and trabecular portion of the right ventricle. . Associated anomalies include atrial septal defect, pulmonary atresia, ventricular septal defect, and supraventricular tachycardia. LA
  • CORTRIATRIATUMThe incidence of cor triatriatum is less than 1 in 10,000. First reported in 1868, cor triatriatum, that is, a heart with 3 atria (triatrial heart), is a congenital anomaly in which the left atrium (cor triatriatum sinistrum) or right atrium (cor triatriatum dextrum) is divided into 2 parts by a fold of tissue, a membrane, or a fibromuscular band. Classically, the proximal (upper or superior) portion of the corresponding atrium receives venous blood, whereas the distal (lower or inferior) portion is in contact with the atrioventricular valve and contains the atrial appendage and the true atrial septum that bears the fossa ovalis. The membrane that separates the atrium into 2 parts varies significantly in size and shape.
  • CORTRIATRIATUM It may appear similar to a diaphragm or be funnel-shaped, bandlike, entirely intact (imperforate) or contain one or more openings (fenestrations) ranging from small, restrictive- type to large and widely open. Cor triatriatum dexter is a rare cardiac abnormality in which the right atrium is subdivided into two distinct chambers. This anomaly is generally attributed to the persistence of the right sinus venosus valve and it is frequently associated with severe malformations of other right heart structures. Cor triatriatum dexter results from persistence of the entire right sinus venosus valve, which forms a large, obstructive flap or septum across the right atrium and divides it into 2 separate chambers. The upstream chamber receives superior and inferior vena caval flow, while the downstream chamber incorporates the right atrial appendage.
  • CORTRIATRIATUM In this situation, venous flow is directed to the upstream chamber and subsequently across an atrial septal defect to the left atrium, resulting in a right-to-left shunt. Because the membrane is usually perforated, there is also some flow across the membrane into the downstream chamber and through the tricuspid valve into the right ventricle. Echocardiographically, the membrane generally runs from the inferior vena cava to the superior vena cava, separating the right atrial appendage and tricuspid valve from the great veins. This cardiac malformation can be differentiated from the gianteustachian valve dividing the right atrium, by echocardiographic demonstration of the atrial septal defect and by the presence of cyanosis
  • ENLARGE CORONARY SINUS The coronary sinus is enlarge 1. If left superior vena cava or pulmonary vein open into it. PREVALENCE : 0.5% in general population & 3-10 %among childern with CHD. 2. In condition associated with raise right atrial pressure like – tricuspid atresia, severe pulmonary arterial hypertension. 3. Increased left main coronary artery flow and increased coronary sinus return. Dilated coronary sinus is a prompt to look for further cardiac abnormalities such as intracardiac shunts or thoracic venous abnormalities. The complex of an unroofed coronary sinus (UCS) and a persistent left superior vena cava (PLSVC) is a rare congenital heart disease first described by Raghib et al. in 1965.1 A normal coronary sinus drains the cardiac veins into the right atrium. A UCS, in addition to draining the cardiac veins, also communicates abnormally with the left atrium.
  • ENLARGE CORONARY SINUS This abnormal communication is thought to be due to impaired development of the partition between the left atrium and the coronary sinus – an alternative explanation is subsequent dissolution of this partition. A PLSVC, abnormally draining the left internal jugular and subclavian veins into the coronary sinus, is due to impaired degenerationof the embryonic left counterpart of the normal right superior vena cava. A UCS or a PLSVC may be further associated with other cardiac abnormalities. UCS and PLSVC may cause no symptoms or may cause right ventricular failure, paradoxical cerebral embolism and cerebral abscess, or cyanosis that may vary with neck position. UCS and PLSVC may be further associated with other cardiac abnormalities such as atrioventricular septal defect, atrial appendage anomalies and coronary sinus ostial atresia .
  • ENLARGE CORONARY SINUSsuch as atrioventricular septal defect, atrial appendage anomalies and coronary sinus ostial atresia . UCS and PLSVC may be further associated with other cardiac abnormalities such as atrioventricular septal defect, atrial appendage anomalies and coronary sinus ostial atresia. This case is associated with a PAPVD. UCS, PLSVC and associated cardiac abnormalities may be investigated with echocardiography. Treatment of UCS and PLSVC, if needed, is surgical correction of its components and associated abnormalities. Dilated coronary sinus is a prompt to look for further cardiac abnormalities such as intracardiac shunts or thoracic venous abnormalities. The complex of UCS and PLSVC is one such abnormality and its treatment requires careful assessment of not only the UCS and PLSVC but also other concomitant cardiac abnormalities to prevent post- treatment haemodynamic complications
  • CARDIAC MALPOSITION PREVALENCE : 0.103/1000LIVE BIRTH 1% OF ALL CHD’S TYPE :  DEXTROCARDIA ECTOPIA CORDIS - PENTALOGY OF CANTRELL ASPLENIA POLYSPLENIA
  • RHABDOMYOMA Prevalence: Any cardiac tumor 1-2/10,000; over 90% are benign. Rhabdomyoma is the most common benign congenital tumor.. occurring in the fetus and neonate, with most identified within the first year of life Recurrence risk: Frequent in patients with tuberous sclerosis. Associated anomalies: Tuberous sclerosis (50-86%), cardiac dysrhythmia, non-immune hydrops. Intracavitary growth of the tumors may cause disruption of intracardiac blood flow leading to congestive heart failure and hydrops. Cardiac dysrhythmias, caused by compression of the conducting system, are also frequently identified. Rhabdomyomas grow slowly in utero but tend to regress spontaneously after birth.
  • FETAL P S V T Adenosine :Per umbilical 0.05 to 0.2mg Flecanide : oral 200-300mg Digoxin : Oral, parenteral Transplacental, 0.5- 1 mg Amiodarone : parenteral 600-800mg Sotatlol : oral; 80-320 mg FETAL PSVT ========
  • FETAL COMPLETE A-V BLOCK 1901 MORQUIO gave first description of CCAVB. 1908 Van den heuvel – ECG 1929 Yater IN UTERO diagnosis of CCAVB. Can be diagnosed as early as 16th week of gestation. 1976 McCue & Chameides - association between CCAVB & connective tissue disorder . 75% anti –Ro positive Prevalence : 1/22,000 live births 1/3 to ¼ have - structural heart defects - L – TGA ECD
  • Eye, ear, face and neck (743) Congenital anomalies of eye (743.0) Anophthalmos (743.1) Microphthalmos (743.2) Buphthalmos (743.3) Congenital cataract and lens anomalies (743.4) Coloboma and other anomalies of anterior segment (743.45) Aniridia (743.5) Congenital anomalies of posterior segment (743.6) Congenital anomalies of eyelids, lacrimal system, and orbit (744) Congenital anomalies of ear, face, and neck (744.0) Anomalies of ear causing impairment of hearing (744.1) Accessory auricle (744.2) Other specified congenital anomalie of ea (744.22) Macrotia (744.23) Microtia (744.3) Unspecified congenital anomaly of ear (744.4) Branchial cleft cyst or fistula; preauricular sinus (744.5) Webbing of neck (744.8) Other specified congenital anomalies of face and neck (744.81) Macrocheilia (744.82) Microcheilia (744.83) Macrostomia (744.84) Microstomia
  • OPHTHALAMIC BIRTH DEFECTS CONGENITAL CORNEAL OPACITY Most ocular abnormalities have occurred in patients with chromosomal defects. Major ocular abnormalities, such as anophthalmia, cyclopia, retinoblastoma, microphthalmia, corneal opacities, coloboma, cataracts, intraocular cartilage, retinal dysplasia and absent optic nerves; and, minor abnormalities, such as ptosis, abnormal eyelid fissures, and Brushfield spots are present in individuals with abnormal chromosomes. The chromosome errors are usually present in all somatic tissues. Consequently, multiple tissue abnormalities would be expected in most patients with chromosome abnormalities.
  • CONGENITAL PTOSISMental retardation is very common in those patients with abnormalities of autosomes. Therefore, it is unlikely that an isolated single clinical or histopathological ocular abnormality will be the result of a chromosome error. However, if the individual has multiple systemic abnormalities, then a chromosome error can be considered reasonably. Any chromosome disorder can be identified correctly by an appropriate banding chromosome determination on the affected individuals. With the possible exception of the association of 13ql4- and retinoblastoma, there does not appear to be any pathognomonic ocular abnormalities that occur in individuals with chromosome errors.
  • Mental retardation is very common in those patients with abnormalities of autosomes. Therefore, it is unlikely that an isolated single clinical or histopathological ocular abnormality will be the result of a chromosome error. However, if the individual has multiple systemic abnormalities, then a chromosome error can be considered reasonably. Any chromosome disorder can be identified correctly by an appropriate banding chromosome determination on the affected individuals. With the possible exception of the association of 13ql4- and retinoblastoma, there does not appear to be any pathognomonic ocular abnormalities that occur in individuals with chromosome errors.
  • CONGENITAL GLUCOMA Buphthalmos is defined as a "large eye" [bu (Greek) = ox or cow]. It is most often present in both eyes in children due to congenital open-angle glaucoma of the eye, noted by unusually large corneas and increased overall size of the eyeball. An abnormally narrow angle between the cornea and iris blocks the outflow of aqueous humor, which leads to an increased intraocular pressure and a characteristic bulging enlargement of the eyeball. Patient symptoms may include excessive tearing and light sensitivity ("photophobia"). Cupping of the optic disk, which may be the first sign to be seen on dilated examination by an eye care professional. Congenital glaucoma untreated usually leads to blindness.
  • CONGENITAL GLUCOMA Aniridia is a rare congenital condition characterized by the underdevelopment of the eye's iris. This usually occurs in both eyes. It is associated with poor development of the retina at the back of the eye preventing normal vision development. Aniridia does not always cause lack of vision, but usually leads to a number of complications with the eye The AN2 region of the short arm of chromosome 11 (11p13) includes the PAX6 gene (named for its PAired boX status), whose gene product helps regulate a cascade of other genetic processes involved in the development of the eye Aniridia is a heterozygotic disease, meaning that only one of the two chromosome 11 copies is affected. When both copies are altered (homozygous condition), the result is a uniformly fatal condition with near complete failure of entire eye formation
  • ANIRIDIAAniridia may be broadly divided into hereditary and sporadic forms. Hereditary aniridia is usually transmitted in an autosomal dominant manner (each offspring has a 50% chance of being affected), although rarer autosomal recessive forms (such as Gillespie syndrome) have also been reported. Sporadic aniridia mutations may affect the WT1 region adjacent to the AN2 aniridia region, causing a kidney cancer called nephroblastoma (Wilms tumor). These patients often also have genitourinary abnormalities and mental retardation (WAGR syndrome).
  • ANIRIDIA Aniridia is a rare congenital condition characterized by the underdevelopment of the eye’s iris. This usually occurs in both eyes. It is associated with poor development of the retina at the back of the eye preventing normal vision development. Aniridia does not always cause lack of vision, but usually leads to a number of complications with the eye The AN2 region of the short arm of chromosome 11 (11p13) includes the PAX6 gene (named for its PAired boX status), whose gene product helps regulate a cascade of other genetic processes involved in the development of the eye (as well as other nonocular structures).[ Aniridia is a heterozygotic disease, meaning that only one of the two chromosome 11 copies is affected. When both copies are altered (homozygous condition), the result is a uniformly fatal condition with near complete failure of entire eye formation. In 2001, two cases of homozygous An iridia patients were reported; the fetuses died prior to birth and had severe brain damage. In mice, homozygous Small eye defect (mouse Pax-6) led to loss of eyes, nose and the fetuses suffered severe brain damage. [Aniridia may be broadly divided into hereditary and sporadic forms.
  • ANIRIDIA Hereditary aniridia is usually transmitted in an autosomal dominant manner (each offspring has a 50% chance of being affected), although rarer autosomal recessive forms (such as Gillespie syndrome) have also been reported. Sporadic aniridia mutations may affect the WT1 region adjacent to the AN2 aniridia region, causing a kidney cancer called nephroblastoma (Wilms tumor). These patients often also have genitourinary abnormalities and mental retardation (WAGR syndrome). Several different mutations may affect the PAX6 gene. Some mutations appear to inhibit gene function more than others, with subsequent variability in the severity of the disease. Thus, some aniridic individuals are only missing a relatively small amount of iris, do not have foveal hypoplasia, and retain relatively normal vision. Presumably, the genetic defect in these individuals causes less "heterozygous insufficiency," meaning they retain enough gene function to yield a milder phenotype (OMIM) 106210 AN (OMIM) 106220 Aniridia and absent patella (OMIM) 106230 Aniridia, microcornea, and spontaneously reabsorbed cataract (OMIM) 206700 Aniridia, cerebellar ataxia, and mental deficiency (Gillespie syndrome)
  • CONGENITAL ANTERIOR STAPHYLOMA Staphyloma : It is the protrusion of the sclera or cornea, usually lined with uveal tissue. In 1827 F.A. Von Ammon describe it. Anterior staphyloma staphyloma is in the anterior part of the eye. corneal staphyloma 1. bulging of the cornea with adherent uveal tissue. 2. One formed by protrusion of the iris through a corneal wound. posterior staphyloma, staphyloma posticum backward bulging of sclera at posterior pole of eye. scleral staphyloma protrusion of the contents of the eyeball where the sclera has become thinned
  • CONGENITAL ANTERIOR STAPHYLOMA Probabilities are that two types of such congenital anterior staphyloma exist – one is of inflammatory origin and the other is due to developmental defect. The latter is, however, all the more rare.
  • FACE - CLEFT MICRO OPHTHALMIA ANOPHTHALMIA HYPOTELORISM (STENOPIA) HYPERTELORISM
  • FACE - CLEFT • ONLY PALATE • ONLY LIP • BOTH LIP & PALATE ARE CLEFT • PREVALENCE 1/800 BIRTH 50% 25%25%
  • CLEFT LIP & PALATE INHERITANCE AD, AR, XR & XD 1-2 % WITH 13 & 18 TRISOMY 5% TERATOGEN – ANTIEPILEPTICS WITH 100 GENETIC DISODERS . 80% CLEFT S LIP WITH /WITHOUT PALATE ISOLATED 20 % CLEFT ASSOCIATED WITH SYNDROME PREVALENCE 1/800 BIRTH
  • CLEFT LIP AND PALATE .
  • CLEFT LIP MEDIAN CLEFT LIP PREVALENCE IS 0.5 % ASSOCIATE WITH HOLOPROSENCEPHALY & ORAL – FACIAL DIGITAL SYNDROME . MEDIAN & LATERAL CLEFT LIP TYPE OF CLEFT LIP
  • CLEFT LIP .
  • FACIAL CLEFT  This term refers to a wide spectrum of clefting defects (unilateral, bilateral and less commonly mid-line) usually involving the upper lip, the palate, or both.  Cleft palate without cleft lip is a distinct disorder. Facial clefts encompass a broad spectrum of severity, ranging from minimal defects, such as a bifid uvula, linear indentation of the lip, or submucous cleft of the soft palate, to large deep defects of the facial bones and soft tissues.  The typical cleft lip will appear as a linear defect extending from one side of the lip into the nostril.  Cleft palate associated with cleft lip may extend through the alveolar ridge and hard palate, reaching the floor of the nasal cavity or even the floor of the orbit. Isolated cleft palate may include defects of the hard palate, the soft palate, or both.  Both cleft lip and palate are unilateral in about 75% of cases and the left side is more often involved than the right side. Prevalence The incidence of cleft lip with or without cleft palate 1/750, the incidence of cleft palate alone is 1/2500. Treatment Surgical closer of cleft lip is usually performed by three months of the age when the infant has satisfactory weight gain and free from respiratory and systemic infection. Closer of palate is usually done before 1 year of age to enhance normal speech development.
  • ANGULAR CLEFT LIP .
  • ABSENT DEPRESSOR ANGULARIS ORIS The depressor angularis oris muscle (DAOM) originates from the oblique line of the mandible and extends upward and medially to the orbi-cularis oris. It attaches to the skin and the mucous membrane of the lower lip. The DAOM draws the lower corner of the mouth downward and everts the lower lip. The cause for agenesis of the muscle is unknown. The absence or hypoplasia of the DAOM produces characteristic findings. The lower lip on the affected side looks thinner because of the lack of eversion and feels thinner because of the muscle agenesis. When crying, the corner of the mouth on the affected side is displaced toward the normal side and the lower lip on the normal side moves downward and outward
  • ABSENT ORBICULARIS ORIS . These patients have symmetrical forehead wrinkling, eye closure, and nasolabial fold depth. The diagnosis may be confirmed by electrophysiologic studies. The facial nerve conduction time to the mentalis and orbicularis oris muscle are normal. There is no fibrillation in the area normally occupied by the DAOM. Motor units are decreased or absent in the same area. Agenesis of the DAOM can occur as an isolated anomaly but it has also been reported in association with cardiovascular, musculoskeletal, genitourinary, and respiratory defects.
  • MICROGANTHIA OTOCEPHALY : SEVERE HYPOPLASIA OF MANDIBLE SEVERE MIDLINE CLEFT HOLOPROSENCEPHALY, ANTERIOR ENCEPHALOCELE CYCLOPIA, AGLOSSIAMICROSTOMIA, MID FACIAL LOCATION- OF EAR S “EAR HEAD” . PREVALENCE 1/1000 BIRTH
  • MICROGANTHIA • GENETIC SYNDROME • CHROMOSOMAL • TERATOGENIC DRUG • ROBIN ANOMALAD • (SPORADIC) 40% METHOTREXATE TREACHER- COLLINS, ROBIN & ROBERT SYNDROME 18 T TRIPLOIDY
  • NECK TURNER SYNDROME 45 0X . CYSTIC HYGROMA
  • Respiratory system (748) Congenital anomalies of respiratory system (748.0) Choanal atresia
  • RESPIRATORY SYSTEM CONGENITAL DIAPHRAGMATIC HERNIA PLEURAL EFFUSION SEQUESTRATION OF LUNG CYSTIC ADENOMATOID MALFORMATION
  • CYSTIC ADENOMATOID MALFORMATION 1/4000 BIRTH 85% UNILATERAL TYPE – I - MACRO CYSTIC >5 mm II -MIXED III - MICRO CYSTIC <5 mm
  • PULMONARY ABNORMALITIES CYSTIC ADENOMATOID MALFORMATION (CAM)  Cystic adenomatoid malformation of the lung is a developmental abnormality arising from an overgrowth of the terminal respiratory bronchioles.  The condition may be bilateral involving all lung tissue, but in the majority of cases it is confined to a single lung or lobe. The lesions are either macrocystic (cysts of at least 5mm in diameter) or microcystic (cysts less than 5 mm in diameter).  In 85% of cases, the lesion is unilateral with equal frequency in the right and left lungs and equal frequency in the microcystic and macrocystic types. Prevalence: CCAM is common 1-4/100000 birth. Clinical Features : New born present with respiratory distress recurrent respiratory infection and pneumothorax. The lesion may be confused with a diaphragmatic hernia.
  • Treatment :  Antenatal treatment is controversial it may include excision of affected lobe, aspiration of macrocystic lesion.  In the postnatal period surgery is indicated for all symptomatic patients.
  • CONGENITAL DIAPHRAGMATIC HERNIA • GENETIC SYNDROME • CHROMOSOMAL • OTHER • SPORADIC 50% CARNIO SPINAL DEFECT INIENCEPHALY CARDIAC DEFECT FRYNS SYNDROME MARFAN DE LANG SYNDROME 18 & 13T MOSAIC TETRASOMY12 p PALLISTER- KILLIAN SYN
  • CONGENITAL DIAPHRAGMATIC HERNIA 1/4000 BIRTHS TYPE : RIGHT CDH LIVER HERNIATING INTO CHEST HEART ON LEFT SIDE OF CHEST FETAL THERAPY: TRACHEAL OCCLUSION EITHER BY FETSCOPE OR BY BALLON OCCLUSION HEART RIGHT HEMITHORAX LEFT LIVER IN RIGHT HEMITHORAX
  • CONGENITAL DIAPHRAGMATIC HERNIA 1/4000 BIRTHS TYPE : LEFT CDH STOMACH,SPLEEN & BOWEL HERNIATING INTO CHEST FETAL THERAPY: Initial approach was tracheal occlusion by clips on the trachea. It is now performed with intra-tracheal inflatable balloon. The balloon is inserted at 26 to 28 weeks and removed at 34 weeks. HEART RIGHT HEMITHORAX
  • DIAPHRAGMATIC HERNIA  Development of the diaphragm is usually completed by the 9th week of gestation.  In the presence of a defective diaphragm, there is herniation of the abdominal viscera into the thorax at about 10–12 weeks, when the intestines return to the abdominal cavity from the umbilical cord.  However, at least in some cases, intrathoracic herniation of viscera may be delayed until the second or third trimester of pregnancy. Prevalence: Diaphragmatic hernia is found in about 1 per 4000 births. Clinical Features: Respiratory distress grunting use of accessory muscle and cyanosis and child have scaphoid abdomen.
  • Etiology  Diaphragmatic hernia is usually a sporadic abnormality.  However, in about 50% of affected fetuses there are associated chromosomal abnormalities (mainly trisomy 18, trisomy 13 and Pallister–Killian syndrome – mosaicism for tetrasomy 12p), other defects (mainly craniospinal defects, including spina bifida, hydrocephaly and the otherwise rare iniencephaly, and cardiac abnormalities) and genetic syndromes (such as Fryns syndrome, de Lange syndrome and Marfan syndrome). Treatment Aggressive respiratory support it include rapid endotracheal intubation, sedation, possibly paralysis. Surfactant is commonly used but no study has proven. High frequency oscillation ventilation (HFOV). Extracorporeal membrane oxygeneration (ECMO). Nitric oxide is used has selective vasodilator. Surgery : Ideal time to repair after stabilization.
  • CONGENITAL DIAPHRAGMATIC HERNIA 1/4000 BIRTHS TYPE : RIGHT CDH : LIVER HERNIATING INTO CHEST FETAL THERAPY: TRACHEAL OCCLUSION EITHER BY FETSCOPE OR BY BALLON OCCLUSION
  • PLEURAL EFFUSIONUnilateral Bilateral Primary most often chylous; often on the right Secondary Clear; as part of non-immune hydrops Isolated usually associated with an underlying structural anomaly:  pulmonary lymphangiectasia  cystic adenomatoid malformation of the lung  bronchopulmona ry sequestration  diaphragmatic hernia  chest wall hamartoma  pulmonary vein atres incidence of about one per 1,000 pregnancies. Associated with other manifestations of hydrops  subcutaneo us skin oedema  pericardial effusion  ascites
  • PLEURAL EFFUSION One option in the management of fetuses with pleural effusion is thoracocentesis and drainage of the effusions. However, in the majority of cases the fluid reaccumulates within 24-48 hours requiring repeated procedures and it is therefore preferable to achieve chronic drainage by the insertion of pleural-amniotic shunts. The clinical course of primary fetal hydrothorax is unpredictable. Whereas smaller unilateral effusions might remain stable or even regress, this is rarely the case with larger collections. Bilateral effusions, hydrops, preterm delivery and the lack of antenatal therapy are all associated with poor outcome. Once structural and chromosomal anomalies have been excluded, optimal management depends on gestational age, rate of progression, the development of hydrops and associated maternal symptoms. For very large effusions with mediastinal shift, hydrops and/or hydramnios, or when there is rapid enlargement of the effusion, fetal intervention is warranted
  • CHEST WALL LYMPHATIC HYGROMA Congenital lymphangioma is a malformation of the lymphatic system. Although histologically it is a benign disorder, it has a propensityfor rapid growth and local invasion into the muscle, bone, and underlying tissue, and it may lead to a decreased quality of life. This lymphangioma can occur in various anatomic locations, such as the axilla, the anterior abdominal wall, and the extremities. Chest wall lymphangioma, however, seems to be a completely different disease, and prenatal diagnosis of this condition is rare.
  • CHEST WALL LYMPHATIC HYGROMA & LEG HAEMNGIOMA The findings may be unilocular or multilocular, and the lesions range in size from several millimeters to much larger and contain a clear or cloudy lymphoid fluid. Lymphangiomas are believed to be caused by the anomalous development of the lymphatic system; the etiology is variable, probably multigenic. Lymphangiomas are made up of lymphatic vessels supported by connective tissue. No communication exists between the normal lymphatic system and the lymphangioma. Lymphangiomas have a predilection for local infiltration of the dermis, subcutaneous tissue, and soft tissue and occasionally are widespread. In contrast to cystic hygroma, chest lymphangioma may be a different congenital anomaly
  • CHEST WALL LYMPHATIC HYGROMA We suggest that chest wall lymphangioma should be included in the entity of findings of low incidence for chromosomal abnormalities. These lesions are usually not associated with other congenital abnormalities or generalized lymphedema. The prenatal finding of chest wall lymphangioma is relatively simple and easy to diagnose sonographically, and the treatment of choice is surgical excision. The outcome is relatively favorable, with a recurrence rate of 10% to 15%, depending on the technical possibilities of complete removal of the pathologic tissue
  • digestive system (749) Cleft palate (749.0) Cleft palate, unspec. (749.2) Cleft palate w/ cleft lip (750) Other congenital anomalies of upper alimentary tract (750.0) Tongue tie (750.5) Pyloric stenosis (751) Other congenital anomalies of digestive system (751.0) Meckel's diverticulum (751.2) Imperforate anus (751.3) Hirschsprung's disease
  • ABDOMEN EXOMPHALOS 1/4000 GASTROCHESIS 1/4000 BODY STALK ANOMALY 1/10,000 BADDER EXTROPHY 1/30,000 CLOACAL EXTORPHY 1/20,000
  • BODY STALK COMPLEX. . Limb body wall complex was described for the first time by Van Allen et al. in 1987. Two of the three following anomalies must be present to establish the diagnosis: 1. Thoracic and/or abdominal celosomia. 2. Exencephaly or encephalocele with a facial cleft. 3. Anomalies of the extremities. The anomaly consists of a poly- malformation syndrome with a thoraco- and/or abdomino-schisis associated with an eventration of the internal organs and anomalies of the extremities. Russo et al. in 1993 and later Cusi et al. in 1996 distinguished two different phenotypes according to the fetoplacental relationships. In the phenotype with the “cranio- placental attachment” a neural tube closure defect is associated with one or more complex facial clefts and an anterior coelosomy, whereas amniotic bands are inconstant and anomalies of the extremities, if any, touch primarily the upper limbs . In the phenotype with the “abdomino- placental attachment” the authors describe: A persistence of the cavity of the extraembryonic coelom containing the exteriorized abdominal organs.
  • BODY STALK COMPLEX. . The umbilical cord is always localized on the wall of this bag; it is short, non-free and is incompletely covered by the amnion. Urogenital anomalies and the persistence of the primitive cloaca. Rachidian anomalies Prevalence : is estimated to be 0.7 in 10,000 births; 1/14000 BIRTHS IT IS A LETHAL ANOMALY, IN THE FIRST 12 WEEKS. THE ABDOMINAL WALL WITH HERNIATED ORGANS IS FUSED TO THE PLACENTA. Body stalk anomaly is a severe abdominal wall defect caused by the failure to form a body stalk and is characterized by the absence of an umbilical cord , naval & failure of fusion of the four flod of abdominal wall. THE ASSOCIATED MALFORMATIONS ARE – NEURAL TUBE DEFECTS,GASTROINTESTINAL, GENTOURINARY SYSTEM, HEART, LIVER & LUNGS.
  • BODY STALK COMPLEX. Three etiologic mechanisms have been suggested: · mechanical obstruction secondary to compression by amniotic bands, .Abnormalities in the germ disk or ·vascular disruption of the fetoplacental circulation. The body stalk malformation results from a defect in the germ disc, leading to an abnormal body folding, an abnormal amniotic cavity formation and a failure to obliterate the extraembryonic coelom. This accounts for the short or absent umbilical cord and the broad insertion of the amnio-peritoneal membrane onto the placental chorionic plate8
  • BODY STALK COMPLEX-Closing failure of the Cephalic body fold defects lead to an anterior diaphragmatic hernia, ectopia cordis, sternal cleft, cardiac defects and an upper midline omphalocele as observed in the Pentalogy of Cantrell. Closing failure of the caudal body fold results in exstrophy of the bladder, imperforate anus, partial colonic agenesis and agenesis of one umbilical artery together with a hypogastric omphalocele. Aplasia or hypoplasia of the paraspinous or thoracolumbar musculature is responsible for the severe scoliosis. Insufficiency in both cephalic and caudal body folding leads to a combination of the above- mentioned features.
  • EXOMPHALOS 1/4000 BIRTHS RECURRENCE RISK 1% 50% WITH EXOMPHALOS HAVE 18/13 TRISOMY; AT 12 WEEKS OF GESTATION,30% AT MID GESTATION & IN 15% NEONATES . BECKWITH WIEDEMANN SYNDROME-SPORADIC, AD,AR, X LINKED AND POLYGENIC INHERITANCE ABDOMEN OMPHALOCELE OMPHALOCELE
  • EXOMPHALOS LESS OFTEN ASSOCIATED WITH FAILURE IN THE CEPHALIC EMBYRONIC FOLD- PENTALOGY OF CANTRAL ACRANIA STERNAL DEFECT ECTOPIA CORDIS DIAPHRAGMATIC HERNIA EXOMPHALOS FILURE OF CAUDAL FOLD WITH EXTROPHY OF BLADDER & CLOACA, IMPERFORATED ANUS, COLONICATRESIA AND SACRAL VERTEBRAL DEFECTS ABDOMEN OMPHALOCELE OMPHALOCELE
  • EXOMPHALOS 1/4000 BIRTHS RECURRENCE RISK 1% 50% WITH EXOMPHALOS HAVE 18/13 TRISOMY; AT 12 WEEKS OF GESTATION,30% AT MID GESTATION & IN 15% NEONATES . BECKWITH WIEDEMANN SYNDROME-SPORADIC, AD,AR, X LINKED AND POLYGENIC INHERITANCE ABDOMEN OMPHALOCELE OMPHALOCELE
  • GASTROSCHISIS 1/4000 BIRTH UMBILICUS IS NORMAL INTESTINE HERNIATE THROUGH DEFECT IN ABDOMINAL WALL JUST LATERAL & USUALLY ON RIGHT SIDE OF THE UMBILICUS SPORADIC ABNORMALITY CHILD REQUIRE TOTAL PARENTRAL NUTRITION DURING IMMEDIATE POSTNATAL PERIOD DEATH IS AROUD 4 YEARS OF AGE DUE TO LIVER FAILURE
  • GASTROSCHISIS 1/4000 BIRTH UMBILICUS IS NORMAL INTESTINE HERNIATE THROUGH DEFECT IN ABDOMINAL WALL JUST LATERAL & USUALLY ON RIGHT SIDE OF THE UMBILICUS SPORADIC ABNORMALITY CHILD REQUIRE TOTAL PARENTRAL NUTRITION DURING IMMEDIATE POSTNATAL PERIOD DEATH IS AROUD 4 YEARS OF AGE DUE TO LIVER FAILURE
  • BADDER EXTROPHY 1/3000 0BIRTH SPORADIC ABNORMALITY DIAGNOSIS: NORMAL AMNIOTIC FLUID URINARY BLADDER NOT VISUALIZED ANECHOGENIC MASS PROTUDING FROM LOWER ABDOMINAL WALL
  • CLOACAL EXTROPHY ½0,000BIRTH SPORADIC ABNORMALITY DIAGNOSIS: NORMAL AMNIOTIC FLUID URINARY BLADDER NOT VISUALIZED ANECHOGENIC MASS PROTUDING FROM LOWER ABDOMINAL WALL . POSTERIOR ANOMALOUS COMPONENT- HERNIATED BOWEL &/OR MENINGOMYELOCELE
  • Digestive system (749) Cleft palate (749.0) Cleft palate, unspec. (749.2) Cleft palate w/ cleft lip (750) Other congenital anomalies of upper alimentary tract (750.0) Tongue tie (750.5) Pyloric stenosis (751) Other congenital anomalies of digestive system (751.0) Meckel's diverticulum (751.2) Imperforate anus (751.3) Hirschsprung's disease
  • GASTROINTESTINAL DEFECTS EOSOPHAGEAL ATRESIA 1/3000 BIRTHS DUODENAL ATRESIA 1/5000 BIRTHS INTESTINAL OBSTRUCTION 1/2,000 BIRTHS HIRSCHPRUNG DISEASE 1/3,000 BIRTHS MECONIUM PERITONITIS 1/3,000 BIRTHS HEPATIC CALCIFICATION 1/2000 BIRTHS ANORECTAL MALFORMATION 1/4000 BIRTHS
  • ESOPHAGEAL WEB OR RING Esophageal webs are thin (2- 3mm) membranes of normal esophageal tissue consisting of mucosa and submucosa. They can be congenital or acquired. Congenital webs commonly appear in the middle and inferior third of the esophagus, and they are more likely to be circumferential with a central or eccentric orifice. esophageal webs and rings are estimated to occur in 1 in 25,000 to 1 in 50,000 live births. They are mainly observed in the Plummer-Vinson syndrome, which is associated with chronic iron deficiency anemia. Esophageal webs are associated with bullous diseases (such as epidermolysis bullosa, pemphigus, and bullous pemphigoid), with graft versus host disease involving the esophagus, and with celiac disease.
  • TRACHEO- ESOPHAGEAL FISTLA
  • ESOPHAGEAL ATRESIA & TRACHEO ESOPHAGEL FISTULA Esophageal atresia and tracheoesophageal fistulae, found in about 90% of cases, result from failure of the primitive foregut to divide into the anterior trachea and posterior esophagus, which normally occurs during the 4th week of gestation. Prevalence Esophageal atresia is found in about 1 in 3000 births. Causes Sporadic defect. 20% may have 18 & 21 trisomy. 50% with it have cardiac defects. It may part of VATER defect. 80% patient with esophageal atresia have tracheo – esophageal fistula. RK LK NO STOMACH BUBBLE
  • ESOPHAGEAL ATRESIA & TRACHEO ESOPHAGEL FISTULA Diagnosis Prenatally, the diagnosis of esophageal atresia is suspected when, in the presence of polyhydramnios (usually after 25 weeks), repeated ultrasonographic examinations fail to demonstrate the fetal stomach. Prognosis Survival is primarily dependent on gestation at delivery and the presence of other anomalies. Thus, for babies with an isolated tracheoesophageal fistula, born after 32 weeks, when an early diagnosis is made, avoiding reflux and aspiration pneumonitis, postoperative survival is more than 95%. RK LK NO STOMACH BUBBLE
  • DUODENAL ATRESIA DUODENAL ATRESIA At 5 weeks of embryonic life, the lumen of the duodenum is obliterated by proliferating epithelium. The patency of the lumen is usually restored by the 11th week and failure of vacuolization may lead to stenosis or atresia. Duodenal obstruction can also be caused by compression from the surrounding annular pancreas or by peritoneal fibrous bands. Prevalence Duodenal atresia is found in about 1 per 5000 births. DOUBLE BUBBLE
  • DUODENAL ATRESIAEtiology Duodenal atresia is a sporadic abnormality, although, in some cases, there is an autosomal recessive pattern of inheritance. Approximately half of fetuses with duodenal atresia have associated abnormalities, including trisomy 21 (in about 40% of fetuses) and skeletal defects (vertebral and rib anomalies, sacral agenesis, radial abnormalities and talipes), gastrointestinal abnormalities (esophageal atresia/tracheoesophageal fistula, intestinal malrotation, Meckel’s diverticulum and anorectal atresia), cardiac and renal defects. Diagnosis Prenatal diagnosis is based on the demonstration of the characteristic ‘double bubble’ appearance of the dilated stomach and proximal duodenum, commonly associated with polyhydramnios. Prognosis Survival after surgery in cases with isolated duodenal atresia is more than 95%. DOUBLE BUBBLE
  • INTESTINAL OBSTRUCTION Intrinsic lesions result from absent (atresia) or partial (stenosis) recanalization of the intestine. In cases of atresia, the two segments of the gut may be either completely separated or connected by a fibrous cord. In cases of stenosis, the lumen of the gut is narrowed or the two intestinal segments are separated by a septum with a central diaphragm.. The most frequent site of small bowel obstruction is distal ileus (35%), followed by proximal jejunum (30%), distal jejunum (20%), proximal ileus (15%). In about 5% of cases, obstructions occur in multiple sites. Anorectal atresia results from abnormal division of the cloaca during the 9th week of development. Prevalence Intestinal obstruction is found in about 1 per 2000 births; in about half of the cases, there is small bowel obstruction and in the other half anorectal atresia. Small intestine 1/750 BIRTHS DIALTED BOWEL LOOP Dx ILEAL ATRESIA
  • INTESTINAL OBSTRUCTION Diagnosis Diagnosis of obstruction is usually made quite late in pregnancy (after 25 weeks), as dilatation of the intestinal lumen is slow and progressive. . The abdomen is usually distended and active peristalsis may be observed. If bowel perforation occurs, transient ascites, meconium peritonitis and meconium pseudocysts may ensue. Prognosis The prognosis is related to the gestational age at delivery, the presence of associated abnormalities and site of obstruction. In those born after 32 weeks with isolated obstruction requiring resection of only a short segment of bowel, survival is more than 95%. Loss of large segments of bowel can lead to short gut syndrome, which is a lethal condition.
  • HIRSCHSPRUNG’S DISEASE Hirschsprung’s disease is characterized by congenital absence of intramural parasympathetic nerve ganglia in a segment of the colon. It derives from failure of migration of neuroblasts from the neural crest to the bowel segments, which generally occurs between the 6th and 12th weeks of gestation. Another theory suggests that the disease is caused by degeneration of normally migrated neuroblasts during either pre- or postnatal life. Prevalence 1 in 3000 births. Etiology It is considered to be a sporadic disease, although in about 5% of cases there is a familial inheritance. In a small number of cases, Hirschsprung’s disease is associated with trisomy 21.
  • HIRSCHSPRUNG’S DISEASE Diagnosis The aganglionic segment is unable to transmit a peristaltic wave, and therefore meconium accumulates and causes dilatation of the lumen of the bowel. The ultrasound appearance is similar to that of anorectal atresia, when the affected segment is colon or rectum. Polyhydramnios and dilatation of the loops are present in the case of small bowel involvement; on this occasion, it is not different from other types of obstruction. Prognosis Postnatal surgery is aimed at removing the affected segment and this may be a two-stage procedure with temporary colostomy. Neonatal mortality is approximately 20%.
  • MECONIUM PERITONITIS Etiology Intestinal stenosis or atresia and meconium ileus account for 65% of the cases. Other causes include volvulus and Meckel’s diverticulum. Meconium ileus is the impaction of abnormally thick and sticky meconium in the distal ileum, and, in the majority of cases, this is due to cystic fibrosis. Prevalence Meconium peritonitis is found in about 1 in 3000 births.
  • MECONIUM ILEUS Diagnosis In the typical case, meconium peritonitis is featured by the association of intra-abdominal echogenic area, dilated bowel loops and ascites. Postnatally “SOAP BUBBLE “appearance on C – ray due air & meconium mixing Meconium ileus hyperechogenic fetal bowel at 16– 18 weeks of gestation may be present in 75% of fetuses with cystic fibrosis. The prevalence of cystic fibrosis in fetuses with prenatal diagnosis of intestinal obstruction may be about 10%. Prognosis Meconium peritonitis is associated with a more than 50% mortality in the neonatal period.
  • ANORECTAL MALFORMATION .Incidence 1 in 4000. Imperforated anus It can be devided into low lesion where the rectum has descended through the sphincter comlex,and high lesion where it has not. Manifestationand diagnosis :Low anal atresia anal opening is covered with skin, after 24 hrs meconium bulding may be seen. In these cases immediate perineal procedure performed followed by dilation programm. -High lesion Perineum appear flat,or there may be air or meconium passed via the penis or urethra, in this condition entering the bulbur,prostatic urethra and even the bladder.They have good prognosis with a normal sacrum and anal dimple and intact sphincter function. UB
  • HEPATO-BILIARY SYSTEM Fetal cholelithiasis was first diagnosed in 1983 and since then there have been only few reports about the presence of gallstones in the fetus. Maternal conditions, fetal or obstetrical predisposing risk factors have been proposed to have a causative role, but the pathogenesis of fetal gallstones remains unknown. fetal cholelithiasis confirmed to be a self-limiting disease without complications and did not require any form of therapy. However, a close follow-up is indicated in these patients until spontaneous resolution is demonstrated by US.
  • HEPATO-BILIARY SYSTEM Fetal cholelithiasis was first diagnosed in 1983 and since then there have been only few reports about the presence of gallstones in the fetus. Maternal conditions, fetal or obstetrical predisposing risk factors have been proposed to have a causative role, but the pathogenesis of fetal gallstones remains unknown. fetal cholelithiasis confirmed to be a self-limiting disease without complications and did not require any form of therapy. However, a close follow-up is indicated in these patients until spontaneous resolution is demonstrated by US.
  • ABDOMINAL CYST Choledochal,uncommon congenital disorder characterized by a globular or fusiform dilatation of the common bile duct just below the site of entry of the cystic duct. It is detected with an incidence of 0.2 - 0.5% per 1.000.000 population. There is a 3:1 female predominance. Type I choledocal cyst refers to aneurysmal dilatation of the common bile duct often accompanied by distal narrowing. It accounts for 80% - 90% of cases. Types II choledochocoele which involves only the intraduodenal portion of the main bile duct and accounts for 1 - 5% of cases. the common bile duct terminates into the choledochocoele which drains into the duodenum via an aperture in its wall. The main pancreatic duct may also empty into the
  • ABDOMINAL CYST Type III occurs when the common bile duct enters normally into the papilla and the choledococoele fills and empties directly into the common bile duct. In this variant the pancreatic duct usually enters into the main bile duct proximally to the choledochocoele. Type IV refers to multiple cysts. Type IVa refers to multiple intrahepatic cysts and an extrahepatic cyst and Type IVb refers to multiple extrahepatic cysts. Type V refers to Carolis disease complete biliary tree is involved. CHOLEDOCAL CYST MESENTRIC CYST OMENTAL CYST INTTESTINAL DUPLICATION CYST OVARIAN CYST
  • ANOMALIES OF UMBILICAL CORD Abnormalities of the umbilical vein, which are very rare, can be divided in three groups: (1) Persistence of the right umbilical vein with ductus venosus and presence or absence of left umbical vein. (2) Absence of the ductus venosus with extrahepatic insertion of the umbilical vein. (3) Dilated umbilical vein with normal insertion.
  • PENTALOGY OF CANTERLLPentalogy of Cantrell is a condition in which a person typically has two or three of the following birth defects, with very few people having all five findings: (1) a deficiency of the front part of the diaphragm (the thin layer of muscle underneath the lungs involved in breathing); (2) a defect of the middle part of the abdomen above the belly button; (3) a defect in the pericardium (the outer layer) of the diaphragm; (4) various congenital (present at birth) heart abnormalities; and (5) a defect of the lower part of the sternum (breastbone). The condition is believed to be caused by a failure in development that occurs when the fetus is about 14-18 days old. Treatment is based on the symptoms present in the personCephalic body fold defects lead to an anterior diaphragmatic hernia, ectopia cordis, sternal cleft, cardiac defects and an upper midline omphalocele as observed in the Pentalogy of Cantrell
  • Urinary system (753) Congenital anomalies of urinary system (753.0) Renal agenesis and dysgenesis (753.1) Cystic kidney disease (753.2) Obstructive defects of renal pelvis and ureter (753.3) Other specified anomalies of kidney Renal ectopia Horseshoe kidney (753.4) Other specified anomalies of ureter Ectopic ureter (753.5) Exstrophy of urinary bladder (753.6) Atresia and stenosis of urethra and bladder neck (753.7) Anomalies of urachus Urachal cyst (753.8) Other specified anomalies of bladder and urethra (753.9) Unspecified anomaly of urinary system
  • KIDNEY AND URINARY TRACT RENAL AGENESIS BILATERAL 1/5000 BIRTHS RENAL AGENESIS UNILATERAL 1/2000 BIRTHS INFANTILE POLCYSTIC KIDNEY 1/30,000 BIRTHS MULTICYSTIC DYSPLASTIC KIDNEY DISEASE 1/1,000 BIRTHS ADULTPOLCYSTIC KIDNEY DISEASE 1/1,000 BIRTHS URETERO –PELVIC JUNCTION OBSTRUCTION VESICO URETERIC REFLUX POSTERIOR URETHRAL VALVE 1/3000 BIRTH RECRRENCE RISK 3% AR ; RECURRENCE RISK 25%
  • RENAL AGENESIS Renal agenesis is the consequence of failure of differentiation of the metanephric blastema during the 25–28th day of development and both ureters and kidneys and renal arteries are absent. Prevalence Bilateral renal agenesis is found in 1 per 5000 births, while unilateral disease is found in 1 per 2000 births. Etiology Renal agenesis is usually an isolated sporadic abnormality but, in a few cases, it may be secondary to a chromosomal abnormality or part of a genetic syndrome (such as Fraser syndrome), or a developmental defect (such as VACTERL association). In non- syndromic cases, the risk of recurrence is approximately 3%. However, in about 15% of cases, one of the parents has unilateral renal agenesis and in these families the risk of recurrence is increased. SP S
  • RENAL AGENESIS Diagnosis Antenatally, the condition is suspected by the combination of anhydramnios (from 17 weeks) and empty fetal bladder (from as early as 14 weeks). Examination of the renal areas is often hampered by the oligohydramnios and the ‘crumpled’ position adopted by these fetuses, and care should be taken to avoid the mistaken diagnosis of perirenal fat and large fetal adrenals for the absent kidneys.. Prognosis Bilateral renal agenesis is a lethal condition, usually in the neonatal period due to pulmonary hypoplasia. The prognosis with unilateral agenesis is normal.
  • ECTOPIC KIDNEY A kidney not in the usual position. The most common types are abdominal, lumbar, pelvic, thoracic, and crossed fused ectopic kidneys Prevalance 1/1000births but only about one in 10 of these are ever diagnosed. Ectopic kidney has a reported frequency of 1:500 to 1 : 110; ectopic thoracic kidney 1:13000; solitary kidney 1:1000; solitary pelvic kidney 1:22000; one normal and one pelvic kidney 1:3000; and crossed renal ectopia 1:7000
  • ECTOPIC KIDNEY Sometimes the kidney will not form at all, and never develops, and is called renal agenesis. Sometimes the kidney tissue forms, but forms poorly and forms a scarred and poorly functioning kidney, known as renal dysplasia or as a multi-cystic dysplastic kidney (MCDK). Sometimes these kidneys will stay fairly big and can be fairly easily seen and followed. Other times they will shrink down and atrophy and involute and may more or less completely disappear. Sometimes the kidney tissue will form normally, but the kidney will be small in size, known as a hypoplastic kidney. Sometimes the kidney tissue will form normally, and the kidneys will be normal size, but the two kidneys may migrate abnormally or may be fused together known as ectopic kidneys or as a horseshoe kidney.
  • ECTOPIC KIDNEY Sometimes the kidney will not form at all, and never develops, and is called renal agenesis. Sometimes the kidney tissue forms, but forms poorly and forms a scarred and poorly functioning kidney, known as renal dysplasia or as a multi-cystic dysplastic kidney (MCDK). Sometimes these kidneys will stay fairly big and can be fairly easily seen and followed. Other times they will shrink down and atrophy and involute and may more or less completely disappear. Sometimes the kidney tissue will form normally, but the kidney will be small in size, known as a hypoplastic kidney. Sometimes the kidney tissue will form normally, and the kidneys will be normal size, but the two kidneys may migrate abnormally or may be fused together known as ectopic kidneys or as a horseshoe kidney. UB UB
  • INFANTILE POLYCYSTIC DISEASE (POTTER TYPE I) Prevalence Infantile polycystic kidney disease is found in about 1 per 30 000 births. Etiology This is an autosomal recessive condition. The responsible gene is in the short arm of chromosome 6 and prenatal diagnosis in families at risk can be carried out by first- trimester chorion villous sampling.
  • INFANTILE POLYCYSTIC DISEASE (POTTER TYPE I) Diagnosis Prenatal diagnosis is based on the demonstration of bilaterally enlarged and homogeneously hyperechogenic kidneys. There is often associated oligohydramnios, but this is not invariably so. These sonographic appearances, however, may not become apparent before 24 weeks of gestation and, therefore, serial scans should be performed for exclusion of the diagnosis.
  • INFANTILE POLYCYSTIC DISEASE (POTTER TYPE I) Prognosis The perinatal type is lethal either in utero or in the neonatal period due to pulmonary hypoplasia. The neonatal type results in death due to renal failure within the 1st year of life. The infantile and juvenile types result in chronic renal failure, hepatic fibrosis and portal hypertension; many cases survive into their teens and require renal transplantation.
  • MULTICYSTIC DYSPLASTIC KIDNEY DISEASE (POTTER TYPE II) Multicystic dysplastic kidney disease is thought to be a consequence of either developmental failure of the mesonephric blastema to form nephrons or early obstruction due to urethral or ureteric atresia. The collecting tubules become cystic and the diameter of the cysts determines the size of the kidneys, which may be enlarged or small. Prevalence Multicystic dysplastic kidney disease is found in about 1 per 1000 births. unilateral ½,500-4,500 children Bilateral 25,000 children Etiology In the majority of cases, this is a sporadic abnormality but chromosomal abnormalities (mainly trisomy 18), genetic syndromes and other defects (mainly cardiac) are present in about 50% of the cases.
  • Multicystic renal dysplasia Termed as "Type II" in the Potter classification. There are two main subgroups. Type IIa : If the affected kidney is large in size. Type II b :If the affected kidney is quite small, it can also be termed "hypodysplasia" . Different combinations are possible, so that only one kidney or part of one kidney can be affected and be either larger or small; both affected kidneys can be large or both can be small, or one can be larger and the other small. It is quite common for asymmetry to be present. Grossly, the cysts are variably sized, from 1 mm to 1 cm in size, and filled with clear fluid
  • MULTICYSTIC DYSPLASTIC KIDNEY DISEASE (POTTER TYPE II) There are few recognizable glomeruli and tubules microscopically, and the remaining glomeruli are not affected by the cystic change. The hallmark of renal dysplasia is the presence of "primitive ducts" lined by cuboidal to columnar epithelium and surrounded by a collagenous stroma. This increased stroma may contain small islands of cartilage. The liver will not show congenital hepatic fibrosis. Multicystic renal dysplasia is often the only finding, but it may occur in combination with other anomalies and be part of a syndrome (e.g., Meckel-Gruber syndrome), in which case the recurrence risk will be defined by the syndrome. If this disease is bilateral, the problems associated with oligohydramnios are present, with pulmonary hypoplasia .
  • Dominant Polycystic Kidney Disease (DPKD) This condition is inherited in an autosomal dominant pattern, so the recurrence risk in affected families is 50%. However, this disease rarely manifests itself before middle age. If DPKD is manifested in fetuses and infants, the cysts may involve the gomeruli (so-called "glomerular cysts").  It is possible in some cases for the liver to be more severely affected, so that hepatic failure results. Patients with DPKD are also prone to have berry aneurysms of the cerebral arteries.
  • Cystic Change with Obstruction When the obstruction is complete and occurs early in fetal life, renal hypoplasia (deficiency in total nephron population) and dysplasia (Potter type II; formation of abnormal nephrons and mesenchymal stroma) ensue. On the other hand, where intermittent obstruction allows for normal renal development, or when it occurs in the second half of pregnancy, hydronephrosis will result and the severity of the renal damage will depend on the degree and duration of the obstruction.
  • Cystic Change with Obstruction Grossly, this form of cystic disease may not be apparent. The cysts may be no more than 1 mm in size.  The cysts may be more than 1 mm in size. Microscopically, the cysts form in association with the more sensitive developing glomeruli in the nephrogenic zone so that the cysts tend to be in a cortical location. Thus, "cortical microcysts" are the hallmark of this form of cystic disease.  if the obstruction is at the bladder outlet, oligohydramnios with pulmonary hypoplasia can result.
  • Medullary sponge kidney (MSK)  It is a congenital condition that most often occurs sporadically, without a defined inheritance pattern. It is often bilateral, but incidental and found only on radiologic imaging studies, with an incidence of 0.5 to 1% in adults. MSK may become symptomatic in young adults, with onset of recurrent hematuria and/or urinary tract infection as a consequence of formation of calculi, which develop in 60% of cases. Renal failure is unlikely to occur, but may result from severe pyelonephritis.
  • HYDRONEPHROSISVarying degrees of pelvicalyceal dilatation are found in about 1% of fetuses. Transient hydronephrosis may be due to relaxation of smooth muscle of the urinary tract by the high levels of circulating maternal hormones, or maternal–fetal overhydration. In the majority of cases, the condition remains stable or resolves in the neonatal period.
  • HYDRONEPHROSIS. Mild hydronephrosis or pyelectasia is defined by the presence of an anteroposterior diameter of the pelvis is 4 mm at 15–19 weeks, > 5 mm at 20–29 weeks and > 7 mm at 30–40 weeks. Moderate hydronephrosis Is characterized by an anteroposterior pelvic diameter of more than 10 mm and pelvicalyceal dilatation, is usually progressive and in more than 50% of cases surgery is necessary during the first 2 years of life.
  • URETEROPELVIC JUNCTION OBSTRUCTIO In about 20% of cases underlying cause may be ureteropelvic junction obstruction or vesicoureteric reflux. This is usually sporadic. Although in some cases there is an anatomic cause, such as ureteral valves. In 80% of cases, the condition is unilateral.
  • URETEROPELVIC JUNCTION OBSTRUCTIO Prenatal diagnosis is based on the demonstration of hydronephrosis in the absenceof dilated ureters and bladder. The degree of pelvicalyceal dilatation is variable and, occasionally, perinephric urinomas and urinary ascites may be present. Spotaneous resolution of it occur in 50-70% of all fetuses during antenatal period or in postnatal life upto three years. Postnatally, renal function is assessed by serial isotope imaging studies and, if there is deterioration, pyeloplasty is performed. About 20% of cases, requires postnatal follow-up and possible surgery.
  • VESICO URETERIC REFLUX This sporadic abnormality . It is suspected when intermittent dilatation of the upper urinary tract over a short period of time is seen on ultrasound scanning. Occasionally, in massive vesicoureteric reflux without obstruction, the bladder appears persistently dilated because it empties but rapidly refills with refluxed urine.  Primary megaureter can be distinguished from ureterovesical junction obstruction by the absence of significant hydronephrosis.
  • URETERO VESICLE JUNCTION OBSTRUCTION This is a sporadic abnormality characterized by hydronephrosis and hydroureter in the presence of a normal bladder. The etiology is diverse, including ureteric stricture or atresia, retrocaval ureter, vascular obstruction, valves, diverticulum, ureterocele, and vesicoureteral reflux. Ureteroceles visible as a thin- walled and fluid-filled small circular area inside the bladder; are usually found in association with duplication of the collecting system. In ureteral duplication, the upper pole moiety characteristically obstructs and the lower one refluxes. The dilated upper pole may enlarge to displace the non- dilated lower pole inferiorly and laterally.
  • URETHRAL OBSTRUCTION Urethralobstruction can be caused by urethral agenesis, persistence of the cloaca, urethral strictureor posterior urethral valves. Posterior urethral valves occur only in males and are the commonest cause of bladder outlet obstruction. The condition is sporadic. Prevalence is about 1 in 3000 male fetuses. With posterior urethral valves, there is usually incomplete or intermittent obstruction of the urethra, resulting in an enlarged and hypertrophied bladder with varying degrees of hydroureters, hydronephrosis, a spectrum of renal hypoplasia and dysplasia, oligohydramnios and pulmonary hypoplasia. RK LK RK LK UB
  • URETHRAL OBSTRUCTION Urethralobstruction can be caused by urethral agenesis, persistence of the cloaca, urethral strictureor posterior urethral valves. Posterior urethral valves occur only in males and are the commonest cause of bladder outlet obstruction. The condition is sporadic. Prevalence is about 1 in 3000 male fetuses. With posterior urethral valves, there is usually incomplete or intermittent obstruction of the urethra, resulting in an enlarged and hypertrophied bladder with varying degrees of hydroureters, hydronephrosis, a spectrum of renal hypoplasia and dysplasia, oligohydramnios and pulmonary hypoplasia. RK LK RK LK UB
  • URETHRAL OBSTRUCTION Urethralobstruction can be caused by urethral agenesis, persistence of the cloaca, urethral strictureor posterior urethral valves. Posterior urethral valves occur only in males and are the commonest cause of bladder outlet obstruction. The condition is sporadic. Prevalence is about 1 in 3000 male fetuses. With posterior urethral valves, there is usually incomplete or intermittent obstruction of the urethra, resulting in an enlarged and hypertrophied bladder with varying degrees of hydroureters, hydronephrosis, a spectrum of renal hypoplasia and dysplasia, oligohydramnios and pulmonary hypoplasia. RK LK RK LK UB
  • FETAL TUMORS The most common site of origin of fetal tumors are heart, face and neck and abdomen. The most common site of origin of tumor is the heart (20/84, 23.8%), followed by the face and neck region (19/84, 22.6%) and the abdomen (16/84, 19%). Lymphangiomas (21/84, 25%) and rhabdomyomas (19/84, 22.6%) comprised half of the tumor histologically. Less frequently, teratomas (14/84, 16.6%) and hemangiomas (12/84, 14.2%) were seen. Heart tumor is Rhabdomyoma. The birth prevalence is 1 per 10,000. In 50% tumor is associated with Tuberous sclerosis (AD).
  • FETAL TUMORSNeck tumors are goiter, cervical teratoma – epiganthus –teratoma arising from oral cavity and pharynx. Mediastinal tumors are neuroblastoma and haemangioma. Renal toumors : Mesoblastic nephroma (renal hemartoma ) is the most frequent renal tumor while Wilm’s tumor is rare. The sonographic features in both tumors are the solitary mass replacing normal architecture of the kidney.
  • FETAL TUMORSNeck tumors are goiter, cervical teratoma – epiganthus –teratoma arising from oral cavity and pharynx. Mediastinal tumors are neuroblastoma and haemangioma. Renal toumors : Mesoblastic nephroma (renal hemartoma ) is the most frequent renal tumor while Wilm’s tumor is rare. The sonographic features in both tumors are the solitary mass replacing normal architecture of the kidney.
  • FETAL TUMORS. Neuroblastoma is found in 1 per 20,000 births. It arises from undifferentiated neural tissue of the adrenal medulla or sympathetic ganglia in the abdomen, thorax, pelvis or head and neck. The mass appear solid with or without calcification.
  • CHOROID PLEXUS PAPILLOMA Intracranial tumors are teratomas, epidermoid, dermoid, meduloblastoma, lipoma of corpus callosum, choroid plexus papilloma etc.
  • SACROCOCCYGEAL TERATOMA Tumors of the skin : Sacrococcygeal teratoma – It is found in about 1 per 40.000 births. Female are four times more commonly affected than males, but malignant changes is more common in males.
  • LYMPHANGIOMA Tumors of the extrimities: are vascular hamartoma, hemangioma, lymphangioma and sarcoma.
  • . .
  • Genital organs (752) Congenital anomalies of genital organs (752.4) Anomalies of cervix, vagina, and external female genitalia (752.42) Imperforate hymen (752.5) Undescended testicle (752.6) Hypospadias and epispadias (752.61) Hypospadias (752.62) Epispadias (752.63) Congenital chordee (752.64) Micropenis
  • BICORNUATE UTERUS Müllerian duct anomalies in the female patient include a lack of development (hypoplasia, aplasia, or the unicornuate uterus), lack of fusion at the midline (didelphys or bicornuate uterus), or lack of resorption of midline tissue after fusion (septate and arcuate uteri). Those anomalies that result in the appearance of 2 symmetric endometrial cavities (septate, bicornuate, and didelphys uteri) may be difficult to distinguish. This distinction is important if infertility warrants surgical repair. No surgery is undertaken in didelphys uteri, whereas the approach in bicornuate uteri is laparoscopic and hysteroscopic in septate uteri. Uterine didelphys is complete nonfusion of the müllerian ducts with 2 uteri, 2 cervices, and duplication of the upper third of the vagina.
  • BICORNUATE UTERUSThe bicornuate uterus results from partial nonfusion with 1 cervix and vagina. In a septate uterus, there is complete fusion with a single uterus, but lack of resorption of the midline septum. Septal resorption occurs from caudal to cranial and may be arrested at any point, resulting in variable length of the septum. In the most severe case, the septum extends to the level of the cervix, or even perhaps the upper vagina, resulting in a similar appearance to a didelphys uterus. Characterization of the intervening uterine tissue and presence or absence of cervical duplication are not reliable distinguishing features. The key to diagnosis is the contour of the fundus. The fundal contour is normal in the septate uterus, with a deep concavity (>1 cm) in didelphys and bicornuate uteri.
  • BICORNUATE UTERUS Congenital malformations of ovaries, fallopian tubes and broad ligaments (Q51.) Congenital malformations of uterus and cervix  (Q51.0) Agenesis and apl asia of uterus  (Q51.1) Doubling of uterus with doubling of cervix and vagina  (Q51.2) Other doubling of uterus  (Q51.3) Bicornate uterus  (Q51.4) Unicornate uterus  (Q51.5) Agenesis and aplasia of cervix  (Q51.6) Embryonic cyst of cervix  (Q51.7) Congenital fistulae between uterus and digestive and urinar y tracts  (Q51.8) Other congenital malformations of uterus and cervix  (Q51.9) Congenital malformation of uterus and cervix, unspecified
  • HYPOAPADIAS Prevalence : 1 in 4000 to as high as 1 in 125 boys. Sporadic occurrence The urethral meatus opens on the glans penis in about 50–75% of cases; these are categorized as first degree hypospadias. Second degree (when the urethra opens on the shaft), and third degree (when the urethra opens on the perineum) occur in up to 20 and 30% of cases respectively. The more severe degrees are more likely to be associated with chordee, in which the phallus is incompletely separated from the perineum or is still tethered downwards by connective tissue, or with undescended testes (cryptorchidism). Up to 10% of boys with hypospadias have at least one undescended testis, and a similar number have an inguinal hernia. An enlarged prostatic utricle is common when the hypospadias is severe (scrotal or perineal), and can predispose to urinary tract infections, pseudo- incontinence, or even stone formation
  • Musculoskeletal system (754) Certain congenital musculoskeletal deformities (754.1) Torticollis, sternomastoid (754.3) Dislocation of hip, unilateral (754.5) Varus deformities of feet (754.51) Talipes equinovarus (754.6) Valgus deformities of feet (754.8) Other specified nonteratogenic anomalies (754.81) Pectus excavatum (755) Other congenital anomalies of limbs (755.0) Polydactyly (755.5) Other congenital anomalies of upper limb including shoulder girdle (755.55) Acrocephalosyndactyly Apert syndrome (755.9) Limb anomaly, unspec. (756) Other congenital musculoskeletal anomalies (756.1) Anomalies of spine (756.12) Spondylolisthesis (756.17) Spina bifida occulta (756.5) Osteodystrophies (756.51) Osteogenesis imperfecta
  • SKELETAL ANOMALIES • 1: 4000 PREVALENCE • 25% STILL BIRTH • 30% NEONATAL DEATH
  • CLASIFICTION OF SKELETAL DYSPLASIA  I- The Osteochondrodysplasias, in which there is, generalized abnormality in bone or cartilage. This group is subdivided into three main categories:  Defects of the growth of tubular bones and or spine (chondrodysplasias).  Abnormalities of density or cortical diaphyseal structure and or metaphyseal modeling.  Disorganized development of cartilage and fibrous components of the skeleton.  II- Dysostoses: This group refers to malformationsor absence of individual bones singly or in combination. They are mostly static and their malformations occur during blastogenesis (1st 8 weeks of embryonic life). This is in contrast to osteochondrodysplasias, which often present after this stage, has a more general skeletal involvement and continue to evolve as a result of active gene involvement throughout life .  The dysostoses group can be sub- classified into three main categories:  Those primarily concerned with craniofacial involvement and includes in various craniosynostosis.  Those with predominant axial involvement including the various segmentation defect disorders.  Those affecting only the limbs.
  • SKELETAL ANOMALY . According to the International Nomenclature for Skeletal Dysplasias, the diseases are subdivided into three different groups: (1) Osteochondrodysplasias (abnormalities of cartilage and / or bone growth and development) (2) Disorganized development of cartilaginous and fibrous components of the skeleton; and (3) Idiopathic osteolyses.
  • SKELETAL ANOMALY ACHONDROPLASIA 1 : 26.000 FGFR3 THANATOPHORIC DYSPLASIA 1 : 10,000 FGFR3 ACHONDROGENESIS 1 : 40,000 COL2A1 OSTEOGENESIS IMPERFECTA TYPE I 1 : 30,000 COL1A1, COL1A2 ASPHYXIATING THORACIC DYRTROPHY (JENUE SYNDROME) 1 : 70,000 HYPOPHOSPHATASIA 1 : 100,000 CAMPOMELIC DYSPLASIA 1 : 200,000 SPLIT HAND & FOOT SYNDROME TYPICAL 1:90,000: ATYPICAL + 1 : 15,0000 FGFR3 AD AD/AR AD AR AD
  • BOWING AMELIA OSTEOPETROSIS SHORT RIB POLYDACTYLY SYNDROME CLEIDOCRANIAL DYSPLASIA EILIS - VAN CREVELD SYNDROME STRAIGHT THANATOPHORIC DYSPLASIA CLEDOCRANIAL DYSPLASIA JARCHO-LEVIN SYNDROME LONG BONE ECHOGENICITY NORMAL, SEVERE SHORTING RHIZOMELIA MESOMELIA RHIZOMESOMELIA BOWING OI TYPE 1 AND 3 STRAIGHT THANATOPHORIC DYSPLASIA ACHONDROGENES IS TYPE 1A & 1B OI TYPE 3 BOWING HYPOCHONDROPLASIA JERCHO – LEVIN SYNDROME OI TYPE 3 SHORT RIB POLYDACTYLY SPONDYLOEPI -- PHYSEAL DYSPLASIA STRAIGHT FEMORAL HYPOPLASIA UNUSUAL FACE SYNDROME DIASTROPHIC DYSPLASIA
  • BOWING EILIS - VAN CREVELD SYNDROME STRAIGHT EILIS – VAN CREVELD SYNDROME LONG BONE ECHOGENICITY NORMAL, MODERATE SHORTING RHIZOMELIA MESOMELIA RHIZOMESOMELIA MESOMELIC SYNDROME SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA BOWING OI TYPE 1 SHORT RIB POLYDACTYLY SPONDYLOEPI -- PHYSEAL DYSPLASIA CONGENITA STRAIGHT OI TYPE 1
  • HYPOCHONDROPLASIA JARCHO-LEVIN SYNDROME OI TYPE 3 CLEIDOCRANIAL DYSPLASIA PUNCTATA SPONDYLOEPIPHYSEAL DYSPLASIA COMGENITA LONG BONE ECHOGENICITY NORMAL, MILD SHORTING RHIZOMELIA AND /OR MESOMELIA MESOMELIA FEMORAL HYPOPLASIA UNUSUAL FACE SYNDROME OI TYPE 2 MESOMELIC DYSPLASIA FEMORAL HYPOPLASIA UNUSUAL FACE SYNDROME
  • Polydactyly and syndactyly are due to errors in the process of fetal development. For example, syndactyly results from the failure of the programmed cell death that normally occurs between digits. Most often these errors are due to genetic defects. Polydactyly and syndactyly can both occur by themselves as isolated conditions or in conjunction with other symptoms as one aspect of a multi-symptom disease. There are several forms of isolated syndactyly and several forms of isolated polydactyly; each of these, where the genetics is understood, is caused by an autosomal dominant gene. This means that since the gene is autosomal (not sex-linked), males and females are equally likely to inherit the trait. This also means that since the gene is dominant, children who have only one parent with the trait have a 50% chance of inheriting it. However, people in the same family carrying the same gene can have different degrees of polydactyly or syndactyly
  • Polydactyly and syndactyly are also possible outcomes of a large number of rare inherited and developmental disorders. One or both of them can be present in over 100 different disorders where they are minor features compared to other characteristics of these diseases. For example, polydactyly is a characteristic of Meckel syndrome and Laurence-Moon-Biedl syndrome. Polydactyly may also be present in Patau's syndrome, asphyxiating thoracic dystrophy, hereditary spherocytic hemolytic anemia, Moebius syndrome, VACTERL association, and Klippel- Trenaunay syndrome. Syndactyly is a characteristic of Apert syndrome, Poland syndrome, Jarcho-Levin syndrome, oral-facial- digital syndrome, Pfeiffer syndrome, and Edwards syndrome. Syndactyly may also occur with Gordon syndrome, Fraser syndrome, Greig cephalopolysyndactyly, phenylketonuria, Saethre-Chotzen syndrome, Russell-Silver syndrome, and triploidy.
  • In some isolated cases of polydactyly or syndactyly, it is not possible to determine the cause. Some of these cases might nevertheless be due to genetic defects; sometimes there is too little information to demonstrate a genetic cause. Some cases might be due to external factors like exposure to toxins or womb anomalies. Postaxial polydactyly (80% of cases) Extra digit on ulnar or fibular side of limb Preaxial polydactyly Extra digit on radial or tibial side of limb
  • TALIPES EQUINOVAROUSThe incidence (i.e., how often it occurs) of the condition varies with race, sex, and familial incidence: Boys are twice as likely to get the disease as girls The incidence among Caucasians is around 1 per 1,000 live births The incidence among children in Japan is 0.5 per 1,000 live births The incidence among natives of the South Pacific is nearly 7 per 1,000 live births The incidence for children who have a sibling with clubfoot is approximately 3% The incidence for children who have 1 parent that had clubfoot is 3-4%; if both parents had it, the incidence is 15% Children born with clubfoot have a higher-than-normal incidence (around 14%) of other genetic conditions, including Edward's Syndrome , Larsen's syndrome, spina bifida, neural tube defects, and congenital heart defects
  • Children born with clubfoot have a higher than normal incidence (around 14%) of other genetic conditions, including Edward's Syndrome , Larsen's syndrome, spina bifida, neural tube defects, and congenital heart defects Approximately 40% of children with clubfoot will have the abnormality in both feet. It is believed that the cause is multifactorial , in which a number of different genes and non-genetic factors are involved.
  • TALIPES EQUINOVAROUS About one in every 1,000 babies is born with clubfoot. Clubfoot does not have anything to do with the baby’s position in the womb. It is mostly a problem passed from parents to children (genetic), and it may run in families. If you have one baby with clubfoot, the chances of having a second child with the condition are about one in 40. About half of children with the condition have two clubfeet. Children with certain neurological and chromosome conditions are more likely to have clubfoot. Most times children who have clubfoot are otherwise completely healthy. Clubfoot is the common name used to describe the condition talipes equinovarus, in which there is a deformity of the foot or feet that affects children at birth. Clubfoot may be classified as congenital (i.e. existing at birth) or teratologic (in which it is associated with a neuromuscular disorder). .
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  • LIMB DEFICIENCY 0.49/10,000 BIRTHS AMELIA : COMPLETE ABSENCE OF LIMB MEROMELIA : PARTIAL ABSENCE OF LIMB. TERMINAL DEFICIENCY- ALL SKELETAL ELEMENTS ALONG A LONGITUDINAL RAY BEYOND A GIVEN POINT ARE ABSENT. INERCALARY : ABSENCE OF PROXIMAL OR MIDDLE SEGMENT OF A LIMB WITH ALL THE DISTAL SEGMENT PRESENT. FURTHER SUBGROUPING IS BASED ON THE AXIS OF DEFICIENCY – TRANSVERSE OR LONGITUDINAL
  • LIMB DEFICIENCY Classification of the various types of limb deficiencies has always been difficult. In the past a combination of Greek and Latin has been used and words like dysmelia, phocomelia and amelia may appear to describe individual deficiencies; but these definitions tend to confuse rather than clarify. It is now agreed by international standard ISO 8548/1 that there are two types of deficiency: The Transverse in which the limb has developed normally to a particular level, beyond which no skeletal elements exist though there may be digital buds. The Longitudinal in which there is a reduction or absence of an element or elements within the long axis of the limb. There may be skeletal elements distal to the affected bones or bone
  • ACHONDROPLASIA Prevalence : 1 in 26 000 It is inherited as autosomal dominant disorder, majority of cases represent new mutations. It is the most common nonlethal skelatal dysplasia.The characteristic features of heterozygous achondroplasia include short limbs, lumbar lordosis, short hands and fingers, macrocephaly with frontal bossing and depressed nasal bridge. Intelligence and life expectancy are normal. Prenatally, limb shortening and typical facis usually become apparent only after 22 weeks of gestation. In the homozygous state, which is a lethal condition, short limbs are associated with a narrow thorax.
  • ACHONDROPLASIA Achondroplasia is due to a specific mutation within the fibroblast growth factor receptor type 3 gene (FGFR3) located on 4p16.3. and can now be diagnosed by DNA analysis of fetal blood or amniotic fluid obtained in cases of suspicious sonographic findings. In cases where both parents have achondroplasia, there is a 25% chance that the fetus is affected by the lethal type and the diagnosis can be made by first-trimester chorion villous sampling
  • OSTEOGENESIS OF IMPERFECTA Osteogenesis imperfecta is a genetically heterogeneous group of disorders . The underlying defect is a dominant negative mutation affecting COL1A1 or COL1A2 alleles, which encode the proA1(I) and proa2(I) chains of type I collagen, a protein of paramount importance for normal skin and bone development. The mutations result in the production of abnormal quantity (O I type I) or quality (types II, III and IV) of collagen. There are four clinical subtypes. Type I : which is an autosomal dominant condition with a birth prevalence of about 1 in 30 000. The affected individuals have fragile bones, blue sclerae, loose joints, growth deficiency and progressive deafness, but life expectancy is normal. Prenatal diagnosis is available by DNA analysis. Ultrasonography in the second and third trimesters may demonstrate fractures of long bones.
  • OSTEOGENESIS OF IMPERFECTA Type II: which is a lethal disorder . Prevalence 1 in 60 000 births. Most cases represent new dominant mutations (recurrence is about 6%). The disorder is characterized by early prenatal onset of severe bone shortening and bowing due to multiple fractures affecting all long bones and ribs, and poor mineralization of the skull.
  • OSTEOGENESIS IMPERFECTA Type III is a progressively deforming condition characterized by multiple fractures, usually present at birth, resulting in scoliosis and very short stature. Bowing of the femur has been described in these cases in utero. Both autosomal dominant and recessive modes of inheritance have been reported. Type IV is an autosomal dominant condition with variable expressivity. Severely affected individuals may have deformities of the long bones due to fractures. Prenatal diagnosis of types III and IV can be made by chorion villous sampling and DNA analysis, or by demonstration of abnormal collagen production in cultured fibroblasts.
  • CAMPOMELIC DYSPLASIA Prevalence: 1 in 20,000 births. It lethal , autosomal dominant syndrome due to mutation in the SOX9 gene at,an SRY – related gene at 17q23-qter. is characterized by shortening and bowing of the long bones of the legs, narrow chest, hypoplastic scapulae, and large calvarium with disproportionately small face. Some of the affected genetically male individuals show a female phenotype. Patients usually die in the neonatal period from pulmonary hypoplasia.
  • CAMPOMELIC DYSPLASIA Prevalence: 1 in 20,000 births. It lethal , autosomal dominant syndrome due to mutation in the SOX9 gene at,an SRY – related gene at 17q23-qter. is characterized by shortening and bowing of the long bones of the legs, narrow chest, hypoplastic scapulae, and large calvarium with disproportionately small face. Some of the affected genetically male individuals show a female phenotype. Patients usually die in the neonatal period from pulmonary hypoplasia.
  • ASPHXIATED THORACIC DYSPLASIA(JEUNE SYNDROME) Prevalence : 1 in 70 000 births. It is the autosomal recessive disorder. It ‘s characteristic features are narrow chest and rhizomelic limb shortening, postaxial polydactyly and intracerebral anomalies. There is a variable phenotypic expression and, consequently, the prognosis varies from neonatal death, due to pulmonary hypoplasia (70%), to normal survival. Limb shortening is mild to moderate and this may not become apparent until after 24 weeks of gestation.
  • ELLIS – VAN CREVELD SYNDROME This rare, autosomal recessive condition is characterized by acromelic and mesomelic shortness of limbs, postaxial polydactyly, small chest, ectodermal dysplasia, midline cleft or notched upper lip and congenital heart defects in more than 50% of cases.
  • SHORT LIMB POLYDACTYLY SYNDROME This group of lethal disorders is characterized by short limbs, narrow thorax and postaxial polydactyly. Associated anomalies are frequently found, including congenital heart disease, polycystic kidneys, and intestinal atresia. Four different types have been recognized. Type I (Saldino–Noonan) has narrow metaphyses; Type II (Majewski) has cleft lip and palate and disproportionally shortened tibiae; Type III (Naumoff) has wide metaphyses with spurs; Type IV (Beemer–Langer) is characterized by median cleft lip, small chest with extremely short ribs, protuberant abdomen with umbilical hernia and ambiguous genitalia in some 46,XY individuals.
  • JARCHO- LEVIN SYNDROME This is a heterogeneous disorder, characterized by vertebral and rib abnormalities (misalignment of the cervical spine and ribs). An autosomal recessive type is characterized by a constricted short thorax and respiratory death in infancy. Another autosomal recessive and an autosomal dominant type are associated with a short stature and are compatible with survival to adult life but with some degree of physical disability.
  • DIASTROPHIC DYSPLASIA This autosomal recessive condition due to mutation in the diastrophic dysplasia sulfatase transporter gene located at chromosome 5q32-q33.1 ; resultng in undersulfated proteoglycans in the cartilage matrix. It is characterized by severe shortening and bowing of all long bones, talipes equinovarus, hand deformities with abducted position of the thumbs (‘hitchhiker thumb’), multiple joint flexion contractures and scoliosis. The bones are characterized by crescent – shaped flattened epiphyses , a short and broad femoral neck, and shorting of the metaphyseal widening of tubular bones. There is a wide spectrum in phenotypic expression and some cases may not be diagnosable in utero. This disease is not lethal and neurodevelopment is normal.
  • HYPOPHOSPHATASIA Prevalence : 1 in 100 00births. It autosomal recessive disoder & is characterized by severe shortening of the long bones, small thorax, hypomineralization of the skull and long bones. There is absence of liver and bone isoenzymes of alkaline phosphatase, and first-trimester diagnosis is made by measurement of alkaline phosphatase isoenzymes in chorion villous samples. The diagnosis can also be made by DNA studies.
  • FETAL AKINESIA DEFORMATION SEQUENCE Prevalence : 1 in 3000 Births. Neurological, muscular, connective tissue, and skeletal abnormalities result in multiple joint contractures, including bilateral talipes and fixed flexion or extension deformities of the hips, knees, elbows and wrists. This sequence includes congenital lethal arthrogryposis, multiple pterygium and Pena– Shokeir syndromes. The deformities are usually symmetric and, in most cases, all four limbs are involved. The severity of the deformities increases distally in the involved limb, with the hands and feet typically being the most severely affected. The condition is commonly associated with polyhydramnios (usually after 25 weeks), narrow chest, micrognathia and nuchal edema (or increased nuchal translucency at 10–13 +6 weeks).
  • POLYDACTYLY SYNDROME Polydactyly is the presence of an additional digit, which may range from a fleshy nubbin to a complete digit with controlled flexion and extension. Postaxial polydactyly (the most common form) occurs on the ulnar side of the hand and fibular side of the foot. Preaxial polydactyly is present on the radial side of the hand and the tibial side of the foot. The majority of conditions are isolated with an autosomal dominant mode of inheritance. Some of them are part of a syndrome, usually an autosomal recessive one. Preaxial polydactyly, especially triphalangeal thumb, is most likely to be part of a multisystem syndrome. Central polydactyly, which consists of an extra digit (usually hidden between the long and the ring finger), is often bilateral and is associated with other hand and foot malformations; it is inherited with an autosomal mode of inheritance.
  • POLYDACTYLY SYNDROME Polydactyly is the presence of an additional digit, which may range from a fleshy nubbin to a complete digit with controlled flexion and extension. Postaxial polydactyly (the most common form) occurs on the ulnar side of the hand and fibular side of the foot. Preaxial polydactyly is present on the radial side of the hand and the tibial side of the foot. The majority of conditions are isolated with an autosomal dominant mode of inheritance. Some of them are part of a syndrome, usually an autosomal recessive one. Preaxial polydactyly, especially triphalangeal thumb, is most likely to be part of a multisystem syndrome. Central polydactyly, which consists of an extra digit (usually hidden between the long and the ring finger), is often bilateral and is associated with other hand and foot malformations; it is inherited with an autosomal mode of inheritance.
  • CLUB HAND DEFORMITY Clubhand deformities are classified into two main categories: radial and ulnar. Radial clubhand includes a wide spectrum of disorders that encompass absent thumb, thumb hypoplasia, thin first metacarpal and absent radius. Ulnar clubhand, which is less common, ranges from mild deviations of the hand on the ulnar side of the forearm to complete absence of the ulna. While radial clubhand is frequently syndromatic, ulnar clubhand is usually an isolated anomaly. Clubhand deformities are often found in association with chromosomal abnormalities (such as trisomy 18), hematological abnormalities (such as Fanconi’s pancytopenia, TAR syndrome and Aase syndrome), or genetic syndromes with cardiac defects (such as Holt–Oram syndrome, or the Lewis upper limb–cardiovascular syndrome).
  • SPLIT HAND FOOT SYNDROME The term ‘split hand and foot’ syndrome refers to a group of disorders characterized by splitting of the hand and foot into two parts; other terms include lobster-claw deformity and ectrodactyly. The conditions are classified into typical and atypical varieties. The typical variety found in 1 per 90 000 births and usually inherited with an autosomal dominant pattern) consists of absence of both the finger and the metacarpal bone, resulting in a deep V-shaped central defect that clearly divides the hand into an ulnar and a radial part. The atypical variety (found in 1 per 150000 births) is characterized by a much wider cleft formed by a defect of the metacarpals and the middle fingers; the cleft is U-shaped and wide, with only the thumb and small finger remaining.
  • LIMBS AMNIOTIC BAND SYNDROME g constriction rings of limbs or digits g amputation of limbs or digits g lymphedema g pseudosyndactyly (pseudosyndactyly involves only the distalportion of the digits, whereas syndactyly includes the base of the digits) g abnormal dermal ridge patterns g simian crease g clubfeet Cranium g multiple and asymmetric cephaloceles g anencephaly g acrania Face g cleft-lip, -palate & -face g nasal deformities g asymmetric microphthalmos g incomplete or absent calcifications of the skull Thorax g rib clefting Spine g scoliosis Abdominal wall g gastroschisis g omphalocele g bladder Exstrophy Perineum g ambiguous Genitalia g imperforate Anus
  • AMNIOTIC BAND SYNDROMEAmniotic band syndrome is a set of congenital malformations ranging from minor constriction rings and lymph edema of the digits to complex, bizarre multiple congenital anomalies that are attributed to amniotic bands that stick, entangle and disrupt fetal parts. Prevalence: The prevalence for live births is 7.7:10,0001; for spontaneous abortions it can be as high as 178:10.0003. M1:F1 Amniotic banding affects approximately 1 in 1,200 live births. It is also believed to be the cause of 178 in 10,000 miscarriages. Up to 50% of cases have other congenital anomalies including cleft lip, cleft palate, and clubfoot deformity. Hand and finger anomalies occur in up to 80%. Pathogenesis: Rupture of the amnion in early pregnancy leads to entrapment of fetal structures by “sticky” mesodermic bands that originate from the chorionic side of the amnion, followed by disruption. This theory has been contested recently based on clinical and experimental data
  • AMNIOTIC BAND SYNDROMEAmniotic band syndrome is a set of congenital malformations ranging from minor constriction rings and lymph edema of the digits to complex, bizarre multiple congenital anomalies that are attributed to amniotic bands that stick, entangle and disrupt fetal parts. Prevalence: The prevalence for live births is 7.7:10,0001; for spontaneous abortions it can be as high as 178:10.0003. M1:F1 Amniotic banding affects approximately 1 in 1,200 live births. It is also believed to be the cause of 178 in 10,000 miscarriages. Up to 50% of cases have other congenital anomalies including cleft lip, cleft palate, and clubfoot deformity. Hand and finger anomalies occur in up to 80%. Pathogenesis: Rupture of the amnion in early pregnancy leads to entrapment of fetal structures by “sticky” mesodermic bands that originate from the chorionic side of the amnion, followed by disruption. This theory has been contested recently based on clinical and experimental data
  • AMNIOTIC BAND SYNDROMEAmniotic band syndrome is a set of congenital malformations ranging from minor constriction rings and lymph edema of the digits to complex, bizarre multiple congenital anomalies that are attributed to amniotic bands that stick, entangle and disrupt fetal parts. Prevalence: The prevalence for live births is 7.7:10,0001; for spontaneous abortions it can be as high as 178:10.0003. M1:F1 Amniotic banding affects approximately 1 in 1,200 live births. It is also believed to be the cause of 178 in 10,000 miscarriages. Up to 50% of cases have other congenital anomalies including cleft lip, cleft palate, and clubfoot deformity. Hand and finger anomalies occur in up to 80%. Pathogenesis: Rupture of the amnion in early pregnancy leads to entrapment of fetal structures by “sticky” mesodermic bands that originate from the chorionic side of the amnion, followed by disruption. This theory has been contested recently based on clinical and experimental data
  • AMNIOTIC BAND SYNDROMEAmniotic band syndrome is a set of congenital malformations ranging from minor constriction rings and lymph edema of the digits to complex, bizarre multiple congenital anomalies that are attributed to amniotic bands that stick, entangle and disrupt fetal parts. Prevalence: The prevalence for live births is 7.7:10,0001; for spontaneous abortions it can be as high as 178:10.0003. M1:F1 Amniotic banding affects approximately 1 in 1,200 live births. It is also believed to be the cause of 178 in 10,000 miscarriages. Up to 50% of cases have other congenital anomalies including cleft lip, cleft palate, and clubfoot deformity. Hand and finger anomalies occur in up to 80%. Pathogenesis: Rupture of the amnion in early pregnancy leads to entrapment of fetal structures by “sticky” mesodermic bands that originate from the chorionic side of the amnion, followed by disruption. This theory has been contested recently based on clinical and experimental data
  • AMNIOTIC BAND SYNDROMEAmniotic band syndrome is a set of congenital malformations ranging from minor constriction rings and lymph edema of the digits to complex, bizarre multiple congenital anomalies that are attributed to amniotic bands that stick, entangle and disrupt fetal parts. Prevalence: The prevalence for live births is 7.7:10,0001; for spontaneous abortions it can be as high as 178:10.0003. M1:F1 Amniotic banding affects approximately 1 in 1,200 live births. It is also believed to be the cause of 178 in 10,000 miscarriages. Up to 50% of cases have other congenital anomalies including cleft lip, cleft palate, and clubfoot deformity. Hand and finger anomalies occur in up to 80%. Pathogenesis: Rupture of the amnion in early pregnancy leads to entrapment of fetal structures by “sticky” mesodermic bands that originate from the chorionic side of the amnion, followed by disruption. This theory has been contested recently based on clinical and experimental data
  • AMNIOTIC BAND SYNDROMEAmniotic band syndrome is a set of congenital malformations ranging from minor constriction rings and lymph edema of the digits to complex, bizarre multiple congenital anomalies that are attributed to amniotic bands that stick, entangle and disrupt fetal parts. Prevalence: The prevalence for live births is 7.7:10,0001; for spontaneous abortions it can be as high as 178:10.0003. M1:F1 Amniotic banding affects approximately 1 in 1,200 live births. It is also believed to be the cause of 178 in 10,000 miscarriages. Up to 50% of cases have other congenital anomalies including cleft lip, cleft palate, and clubfoot deformity. Hand and finger anomalies occur in up to 80%. Pathogenesis: Rupture of the amnion in early pregnancy leads to entrapment of fetal structures by “sticky” mesodermic bands that originate from the chorionic side of the amnion, followed by disruption. This theory has been contested recently based on clinical and experimental data
  • In medicine, the term collodion baby applies to newborns who appear to have an extra layer of skin (known as a collodion membrane) that has a collodion-like quality. It is a descriptive term, not a specific diagnosis or disorder . Ichthyosis lammellaris (lamellar ichthyosis) and nonbullous congenital ichthyosis, is a rare inherited skin disorder, affecting around 1 in 600,000 people. The appearance is often described as a shiny film looking like a layer of vaseline. The eyelids and mouth may have the appearance of being forced open due to the tightness of the skin. There can be associated eversion of the eyelids (ectropion). Most cases (approximately 75%) of collodion baby will go on to develop a type of autosomal recessive congenital ichthyosis (either lamellar ichthyosis or congenital ichthyosiform erythrodema) This condition is an autosomal recessive genetic disorder, which means the defective gene is located on an autosome, and both parents must carry one copy of the defective gene in order to have a child born with the disorder. Carriers of a recessive gene usually do not show any signs or symptoms of the disorder. Ichthyosis lamellaris is associated with a deficiency of the enzyme keratinocyte transglutaminase. Genes involved include TGM1, ABCA12, and CYP4F22.[
  • The appearance can be caused by several skin diseases, and it is most often not associated with other birth defects. In most cases, the baby develops an ichthyosis or ichthyosis-like condition or other rare skin disorder. Most cases (approximately 75%) of collodion baby will go on to develop a type of autosomal recessive congenital ichthyosis (either lamellar ichthyosis or congenital ichthyosiform erythrodema). In around 10% of cases the baby sheds this layer of skin and has normal skin for the rest of its life.. This is known as self-healing collodion baby. The remaining 15% of cases are caused by a variety of diseases involving keratinization disorders.[ Known causes of collodion baby include ichthyosis vulgaris and trichothiodystrophy. Less well documented causes include Sjögren- Larsson syndrome, Netherton syndrome, Gaucher disease type 2, congenital hypothyroidism, Conradi syndrome, Dorfman-Chanarin syndrome, ketoadipiaciduria, koraxitrachitic syndrome, ichthyosis variegata and palmoplantar keratoderma with anogenital leukokeratosis. Since many of these conditions have an autosomal recessive inheritance pattern, they are rare and can be associated with consanguinity. Tests that can be used to find the cause of collodion baby include examination of the hairs, blood tests and a skin biopsy
  • Ectodermal dysplasia is the term used to describe a group of rare congenital anomalies characterized by abnormal development of 1 or several ectoderm- derived tissues. At least 154 different types, divided into 11 clinical subgroups, have been recognized.1 Among them, the hypohidrotic type is the most common form, withan incidence of 1 per 10,000 to 1 per 100,000 live births.2–4 This condition, originally known as anhidrotic ectodermal dysplasia because of the notable reduction of sweat gland function, is clinically characterized by hypohidrosis, hypotrichosis, and hypodontia.2–4 Most cases are inherited as an X-linked recessive trait, with the gene responsible being mapped to Xq12- q13.1.5 The autosomal recessive and dominant patterns of inheritance have also been documented.6,7 Prenatal diagnosis of this condition has been reported previously in high-risk pregnancies on the basis of histologic analysisof fetal skin obtained by second- trimester fetoscopy-guided skin biopsy.8,9 DNA-based linkage analysis has also made thediagnosis possible with the use of chorionic villi in the firsttrimester.10 In this report, we describe noninvasive prenatal diagnosis of hypohidrotic ectodermal dysplasia in a pregnancy at risk for this condition.
  • Thrombocytopenia-absent radius (TAR) syndrome is a rare condition in which thrombocytopenia is associated with bilateral radial aplasia. TAR syndrome was first described in 1951. An autosomal recessive inheritance pattern was proposed because TAR affected more than one member of some families. In 1969, TAR was defined as a syndrome and further classified as the association of hypomegakaryocytic thrombocytopenia and absent radii. TAR syndrome is congenital, and patients usually present with symptomatic thrombocytopenia in the first week of life.
  • Epidermolysis bullosa (EB) is an inherited connective tissue disease causing blisters in the skin and mucosal membranes, with an incidence of 1/50,000. Its severity ranges from mild to lethal. It is caused by a mutation in the keratin or collagen gene. Of these cases, approximately 92% are EBS, 5% are DEB, 1% are JEB, and 2% are unclassified. Carrier frequency ranges from 1 in 333 for Junctional, to 1 in 450 for Dystrophic. Carrier frequency for Simplex is not indicated in this article, but is presumed to be much higher than JEB or DEB.
  • Epidermolysis bullosa simplex Generalized epidermolysis bullosa simplex(Koebner variant of generalized epidermolysis bullosa simplex) Localized epidermolysis bullosa simplex(Weber-Cockayne variant of generalized epidermolysis bullosa simplex) Epidermolysis bullosa herpetiformis (Dowling-Meara epidermolysis bullosa simplex) Epidermolysis bullosa simplex of Ogna Epidermolysis bullosa simplex with muscular dystrophy Epidermolysis bullosa simplex with mottled pigmentation
  • OMIM Name Locus Gene 609352 epidermolysis bullosa simplex with migratory circinate erythema 12q13 KRT5 131960 epidermolysis bullosa simplex with mottled pigmentation; EBS-MP 12q13 KRT5 601001 epidermolysis bullosa simplex, autosomal recessive 17q12-q21 KRT14 131900 epidermolysis bullosa simplex, Koebner type; EBS2 17q12-q21, 12q13 KRT5,KRT14 131800 epidermolysis bullosa simplex, Weber-Cockayne type 17q12-q21, 17q11-qter, 12q13 KRT5,KRT14 131760 epidermolysis bullosa herpetiformis, Dowling- Meara type 17q12-q21, 12q13 KRT5,KRT14 226670 epidermolysis bullosa simplex with muscular dystrophy 8q24 PLEC1 612138 epidermolysis bullosa simplex with pyloric atresia 8q24 PLEC1 131950 epidermolysis bullosa simplex, Ogna type 8q24 PLEC1
  • OMIM Name Locus Gene 226730 epidermolysis bullosa junctionalis with pyloric atresia 17q11-qter, 2q31.1 ITGB4, ITGA 6 226700 epidermolysis bullosa, junctional, Herlitz type 18q11.2, 1q32, 1q25-q31 LAMA3, LAM B3, LAMC2 226650 epidermolysis bullosa, junctional, non-Herlitz type 18q11.2, 1q32, 17q11-qter, 1q25-q31, 10q24.3 LAMA3, LAM B3, LAMC2, C OL17A1,ITGB 4 Junctional epidermolysis bullosa Junctional epidermolysis bullosa gravis(Epidermolysis bullosa lethalis, Herlitz disease, Herlitz epidermolysis bullosa, Lethal junctional epidermolysis bullosa) Mitis junctional epidermolysis bullosa Generalized atrophic benign epidermolysis bullosa Cicatricial junctional epidermolysis bullosa Junctional epidermolysis bullosa with pyloric atresia
  • OMIM Name Locus Gene 131750 epidermolysis bullosa dystrophica, autosomal dominant; DDEB 3p21.3 COL7A1 226600 epidermolysis bullosa dystrophica, autosomal recessive; RDEB 11q22-q23, 3p21.3 COL7A1, MMP1 131850 epidermolysis bullosa dystrophica, pretibial 3p21.3 COL7A1 604129 epidermolysis bullosa pruriginosa 3p21.3 COL7A1 132000 epidermolysis bullosa with congenital localized absence of skin and deformity of nails 3p21.3 COL7A1 131705 transient bullous dermolysis of the newborn; TBDN 3p21.3 COL7A1 • Dystrophic epidermolysis bullosa • Dominant dystrophic epidermolysis bullosa(Cockayne-Touraine disease) • Recessive dystrophic epidermolysis bullosa (Hallopeau-Siemens variant of epidermolysis bullosa)
  • Integument (757) Congenital anomalies of the integument (757.3) Other specified anomalies of skin (757.32) Birthmarks (757.39) Other specified congenital anomalies of skin Bloom syndrome Epidermolysis bullosa Pseudoxanthoma elasticum (757.6) Supernumerary nipple
  • Deafness  Recent studies estimate that over 50% of non-syndromic deafness is due to genetic factors with mutations in GJB2, the gene for Connexin 26, causing approximately 30% of cases of sporadic hearing loss and over 50% of cases of congenital severe-to-profound deafness in which there is an affected sibling. It is anticipated that genetic testing will provide a number of advantages by facilitating diagnosis and ultimately impacting prevention and intervention. The purpose of this is to review the clinical process of genetic testing including genetic counselling for deaf and hard of hearing patients and their families.
  • NECK TURNER SYNDROME 45 0X . CYSTIC HYGROMA
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  • BARTSOCAS – PAPAS SYNDROMEBartsocas – papas syndrome (BPS) MIM263650 is a severe and rare autosomal recessive syndrome characterized by popliteal pterigium/ webbing, oligo-syndactyly, genital anomalies and typical face with short palpebral fissures, ankyloblepharon , hypoplastic nose, oro-facial clefts and small mouth It is inherited as autosomal recessive disorder and X - linked recessive disorder. In autosomal recessive variant recurrence risk is 25%. This syndrome is characterized by the multiple pterygium - chinto-sternum, cervical, axillary, antecubital, popliteal and crural; flexion contracture; skeletal abnormalities – absences of metacarpal, metatarsal, phalangeal bones and scapulae; hypoplastic heart and lung; facial anomalies - ectropion, medial canthal web, blephrophimosis, hypoplasia of nose, oral and nasopharyngeal cavities, vocal cord, tongue, microganithia, orolabial synechia; sad and expression less face; short neck; asymmetric nipples; stenosis of rectum; hypoplastic labia majora; complete syndactyly of all fingers and toes; pes equinovarus and absence nails and phalangeal creases. This syndrome should be differentiated form an autosomal recessive - Pena – Shokeir syndrome. It is characterized by neurogenic arthogryphosis, facial anomalies, pulmonary hypo plasia and dismorphic features, resulting from fetal akinesia
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  • References 1. Nelson Text book of Pediatrics 18th edition. 2. Ghai Essential Pediatrics 2nd edition. 3. Manuals of Neonatal care cloherty 6th edition. 4. Rudolf Pediatrics 5. Pediatrics Cardiology Robert Anderson, ellot M. Tyran. 6. Centers for Disease Control and Prevention. 7. The National Library of Medicine or MEDLINE/PubMed Mesh (medical subject heading) term 8. American College of Medical Genetics Centre New York. 9. Essentials of Embryology and Birth Defects, 6th ed. 2003. 10. Cohen MM Jr. Child with Multiple Birth Defects. New York. 11. Buyse ML. Birth Defects Encyclopedia. Oxford, 1990. 12. Hall BD. The state of the art of dysmorphology. Am J; 1993.