Birth defect 2014

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Prof Dr J P Soni
Dr Meenakshi Soni

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Birth defect 2014

  1. 1. 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
  2. 2. 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
  3. 3. 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
  4. 4. Disruption Damage or dissolution of a part following normal development of body part Ex - Amniotic band, thromboembolic episode.
  5. 5. 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
  6. 6. 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
  7. 7. 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.
  8. 8. 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.
  9. 9. 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
  10. 10. 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
  11. 11. 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.
  12. 12. 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.
  13. 13. 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
  14. 14.  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.
  15. 15. 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
  16. 16. DEATHS DUE TO BIRTH DEFECTS • CHROMOSOMAL • CNS • RESPIRATORY • CHD 28% 15% 15%12%
  17. 17. 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.
  18. 18. • GENETIC – CHROMOSOMAL ANOMALY • MATERNAL ILLNESS ,DRUGS AND INFECTION • MULTIFACTORIAL• SPORADIC 40-60% 20-25% 12-25%10-13%
  19. 19. 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
  20. 20. 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).
  21. 21. 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.
  22. 22. 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.
  23. 23. 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
  24. 24. 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
  25. 25. 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.
  26. 26. 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.
  27. 27. 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
  28. 28. 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.
  29. 29. 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
  30. 30. 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
  31. 31. 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
  32. 32. 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
  33. 33. 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
  34. 34. 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
  35. 35. 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.
  36. 36. 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
  37. 37. (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
  38. 38. “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.
  39. 39. 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.
  40. 40. 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 -
  41. 41. • 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
  42. 42. 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
  43. 43. 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
  44. 44. 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.
  45. 45. 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
  46. 46. 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.
  47. 47. 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
  48. 48. 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
  49. 49. 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
  50. 50. 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
  51. 51. .  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.
  52. 52. 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%.
  53. 53. 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 .
  54. 54. ANENCEPHALY 40% MORTILITY OCCUR DURING NEONATAL PERIOD. 80 % OF THE SURVIVAL WILL BE INTELLECTUALY AND NEUROLOGICALLY HADICAP 50% ARE ASSOCIATED WITH SPINA BIFIDA
  55. 55. ANENCEPHALY 40% MORTILITY OCCUR DURING NEONATAL PERIOD. 80 % OF THE SURVIVAL WILL BE INTELLECTUALY AND NEUROLOGICALLY HADICAP 50% ARE ASSOCIATED WITH SPINA BIFIDA
  56. 56. 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.
  57. 57. 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.
  58. 58. 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,
  59. 59. 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.
  60. 60. 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
  61. 61. 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
  62. 62. 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.
  63. 63. 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.
  64. 64. 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. .
  65. 65. 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.
  66. 66. 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
  67. 67. 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
  68. 68. 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
  69. 69. 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.
  70. 70. ARNOLD CHIERI MALFORMATION Type III - in this there is high cervical encephalo- meningocele: in which the medulla, 4TH ventricle, and entire cerebellum reside.
  71. 71. 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
  72. 72. 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.
  73. 73. 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.
  74. 74. 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.
  75. 75. 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.[
  76. 76. 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).
  77. 77. 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
  78. 78. DESTRUCTIVE CEREBRAL LESIONS Prevalence : Destructive cerebral lesions are found in about 1 per 10,000 births. These lesions include hydranencephaly porencephaly and schizencephaly .
  79. 79. 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 .
  80. 80. 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
  81. 81. 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.
  82. 82. 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.
  83. 83. 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
  84. 84. 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.
  85. 85. 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
  86. 86. 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
  87. 87. 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
  88. 88. 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
  89. 89. 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
  90. 90. GENETIC ASPECT OF THE CHDs • 40%• 100% • 80%• 40-50% 21 T 13 T OX18 T
  91. 91. 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%
  92. 92. 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
  93. 93. 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
  94. 94. 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
  95. 95. 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
  96. 96. 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
  97. 97. 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
  98. 98. 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
  99. 99. 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
  100. 100. 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
  101. 101. 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
  102. 102. 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.
  103. 103. 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.
  104. 104. 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
  105. 105. 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
  106. 106. 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.
  107. 107. 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.
  108. 108. 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
  109. 109. 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
  110. 110. 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.
  111. 111. 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.
  112. 112. 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.
  113. 113. 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:
  114. 114. 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.
  115. 115. 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
  116. 116. 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.
  117. 117. 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.
  118. 118. 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.
  119. 119. 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.
  120. 120. 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
  121. 121. 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.
  122. 122. 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.
  123. 123. 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
  124. 124. 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.
  125. 125. 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 .
  126. 126. 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
  127. 127. CARDIAC MALPOSITION PREVALENCE : 0.103/1000LIVE BIRTH 1% OF ALL CHD’S TYPE :  DEXTROCARDIA ECTOPIA CORDIS - PENTALOGY OF CANTRELL ASPLENIA POLYSPLENIA
  128. 128. 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.
  129. 129. 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 ========
  130. 130. 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
  131. 131. 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
  132. 132. 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.
  133. 133. 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.
  134. 134. 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.
  135. 135. 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.
  136. 136. 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
  137. 137. 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).
  138. 138. 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.
  139. 139. 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)
  140. 140. 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
  141. 141. 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.
  142. 142. FACE - CLEFT MICRO OPHTHALMIA ANOPHTHALMIA HYPOTELORISM (STENOPIA) HYPERTELORISM
  143. 143. FACE - CLEFT • ONLY PALATE • ONLY LIP • BOTH LIP & PALATE ARE CLEFT • PREVALENCE 1/800 BIRTH 50% 25%25%
  144. 144. 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
  145. 145. CLEFT LIP AND PALATE .
  146. 146. CLEFT LIP MEDIAN CLEFT LIP PREVALENCE IS 0.5 % ASSOCIATE WITH HOLOPROSENCEPHALY & ORAL – FACIAL DIGITAL SYNDROME . MEDIAN & LATERAL CLEFT LIP TYPE OF CLEFT LIP
  147. 147. CLEFT LIP .
  148. 148. 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.
  149. 149. ANGULAR CLEFT LIP .
  150. 150. 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
  151. 151. 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.
  152. 152. 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
  153. 153. MICROGANTHIA • GENETIC SYNDROME • CHROMOSOMAL • TERATOGENIC DRUG • ROBIN ANOMALAD • (SPORADIC) 40% METHOTREXATE TREACHER- COLLINS, ROBIN & ROBERT SYNDROME 18 T TRIPLOIDY
  154. 154. NECK TURNER SYNDROME 45 0X . CYSTIC HYGROMA
  155. 155. Respiratory system (748) Congenital anomalies of respiratory system (748.0) Choanal atresia
  156. 156. RESPIRATORY SYSTEM CONGENITAL DIAPHRAGMATIC HERNIA PLEURAL EFFUSION SEQUESTRATION OF LUNG CYSTIC ADENOMATOID MALFORMATION
  157. 157. CYSTIC ADENOMATOID MALFORMATION 1/4000 BIRTH 85% UNILATERAL TYPE – I - MACRO CYSTIC >5 mm II -MIXED III - MICRO CYSTIC <5 mm
  158. 158. 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.
  159. 159. 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.
  160. 160. 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
  161. 161. 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
  162. 162. 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
  163. 163. 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.
  164. 164. 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.
  165. 165. CONGENITAL DIAPHRAGMATIC HERNIA 1/4000 BIRTHS TYPE : RIGHT CDH : LIVER HERNIATING INTO CHEST FETAL THERAPY: TRACHEAL OCCLUSION EITHER BY FETSCOPE OR BY BALLON OCCLUSION
  166. 166. 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
  167. 167. 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
  168. 168. 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.
  169. 169. 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
  170. 170. 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
  171. 171. 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
  172. 172. ABDOMEN EXOMPHALOS 1/4000 GASTROCHESIS 1/4000 BODY STALK ANOMALY 1/10,000 BADDER EXTROPHY 1/30,000 CLOACAL EXTORPHY 1/20,000
  173. 173. 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.
  174. 174. 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.
  175. 175. 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
  176. 176. 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.
  177. 177. 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
  178. 178. 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
  179. 179. 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
  180. 180. 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
  181. 181. 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
  182. 182. BADDER EXTROPHY 1/3000 0BIRTH SPORADIC ABNORMALITY DIAGNOSIS: NORMAL AMNIOTIC FLUID URINARY BLADDER NOT VISUALIZED ANECHOGENIC MASS PROTUDING FROM LOWER ABDOMINAL WALL
  183. 183. 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
  184. 184. 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
  185. 185. 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
  186. 186. 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.
  187. 187. TRACHEO- ESOPHAGEAL FISTLA
  188. 188. 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
  189. 189. 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
  190. 190. 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

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