Congenital anomalies include structural, functional, and biochemical disorders present at birth. The global incidence is 30-70 per 1000 live births, and in India it is 2.5-4%. Genetic and environmental factors can cause congenital anomalies. Genetic counseling provides information to families about genetic disorders and helps prevent transmission of hereditary conditions. Measures to prevent congenital anomalies include promoting pre-pregnancy health, immunizations, avoiding teratogens and infections during pregnancy, and prenatal screening and diagnosis.

1. CONGENITAL
ANOMALIES

2. • It includes all
biochemical,structural and
functional disorders present at
the birth.
CONGENITAL
ANOMALY:
• It include only the structural
defects present at the birth.
CONGENITAL
MALFORMATION:

3. Global incidence - About 30 to 70/1000 live
birth.
In India - 2.5 to 4 %
Most common type of birth defect-CNS
abnormalities(22%)

4. Advanced maternal age -
(Down’s syndrome).
Consanguinity -
(Mental Retardation).
Maternal malnutrition-
eg.iodine deficiency(MR) &
folic acid deficiency(CNS
Defects).

6.  A) GENETIC FACTORS:
 Chromosomal abnormalities-eg.Down’s
syndrome
 Single gene disorders
* Autosomal inheritance
.Dominant traits-0ne affected parent
.Recessive traits-Both parents
* X- linked or sex linked inheritance
.Dominant traits-daughter affected
.Recessive traits-son affected
 Polygenic or multifactorial inheritance
.combination of polygenic &
environmental factors

7.  B) ENVIRONMENTAL:
 Intra uterine infections – STORCH
(Syphilis,Toxoplasmosis,Rubella,cytomegalaovirus and Herpes
Virus)
 Drugs intake during pregnancy -
Steroids,Anticonvulsants,Cocaine,Lithium,etc.,
 X-Ray exposure during pregnancy
 Maternal diseases - DM, CF, endocrine abnormalities , iodine
deficiency, folic acid deficiency, malnutrition.,
 Abnormal intrauterine environment - bicornuate uterus,septed
uterus,polyhydramnios,etc.,
 Maternal addiction - alcohol, tobacco & smoking
 Environmental pollution - air.

9. o Amniocentesis at 14-16 weeks.
o Chorionic villi sampling.
o Maternal serum alpha-feto
protein & gonadotrophin.
o USG.
o Amniography.
o Fetoscopy
o Protein assay,DNA diagnosis
o Radiography
o Antenatal screening
o Chromosomal abnormalities
and inborn errors of
metabolism
o Cytogenic study
o Neural tube defect & trisomy
o Fetal profile
o Soft tissue abnormalities
o Wellbeing of the fetus
o Maternal disease,metabolic &
endocrine functions.

10. o Maternal and family
history
o Physical examination
o Biochemical assay
o Cytogenic study
o Blood test
o Hormonal assay
o Radiography
o USG
o Early detection
o Appropriate management

11. COMMON
CONGENITAL
ANOMALIES

12. ANENCEPHALY MENINGOENCEPHALOCELE-

13. A.Normal spine
B.Spina bifida occulta
C.Meningocele
D.Meningomyelocele

14. Meningocele
Meningomyelocele

15. Hydrocephalus Microcephaly

16. Macrocephaly Syringomyelia

17.  OTHERS:
 Agenesis of cranial nerves
 porencephaly

18.  Ventricular septal defect(VSD)
 Atrial septal defect(ASD)
 Patent ductus arteriosus(PDA)
 Co-arctation of aorta
 Transposition of great vessels
 Tricuspid atresia
 Aortic stenosis
 Pulmonic stenosis
 Fallot’s tetralogy
 Mitral or aortic regurgitation
 Dextrocardia

19.  Ebstein’s anomaly

20. Tracheo-esophageal fistula Esophageal atresia

21. Pyloric stenosis Duodenal atresia

22. Meconium ileus
Hirscprung disease(congenital
megacolon)

23. Exomphalos Gastroschisis

24. Diaphragmatic hernia Umbilical hernia

25. Femoral hernia Intestinal obstruction

26. Choanal atresia Pulmonary agenesis

27.  OTHERS
 Tracheo-esophageal fistula
 Congenital atelectasis
 Congenital stridor
 Congenital cyanosis

28. Renal agenesis Hydronephrosis

29. Polycystic kidney Horse shoe kidney

30. Hypospadias Phimosis

31. Undescended testis Hydrocele

32.  OTHERS:
 Posterior Urethral valve(PUV)
 Congenital inguinal hernia
 Malformations of reproductive organs

33. Club foot(talipes) Club foot-types

34. Congenital dislocation of hip Dislocated hip baby

35. Polydactyl Webbed fingers

36. Amelia and phocomelia

37.  Hurler syndrome

38. Marfan syndrome-hand Marfan syndrome-feet

39.  OTHERS:
 Muscular dystrophy
 Congenital scoliosis
 Osteogenesis imperfecta

40.  Thalassemia
 Hemophilia
 Sickle cell Anemia
 Congenital spherocytosis

41.  Cystic fibrosis
 G6PD Deficiency
 Phenylketonuria
 Congenital lactose intolerance
 Glycogen storage diseases
 Wilson’s disease
 Inborn errors of metabolism,etc.,

42. Congenital
hypopituitarism(Dwarfism)
Congenital goiter

43.  OTHERS:
 Congenital hypothyroidism(cretinism)
 Congenital adreno genital hyperpalsia
 Diabetes mellitus

44.  Down’s syndrome(Trisomy-21)

45. Edward’s syndrome

46.  OTHERS:
 Turner’s syndrome
 Klinefelter’s syndrome

47.  Many congenital anomalies
do not fit into particular
categories of either
metaboli or chromosomal
disorders or to a specific
system.
 They may found as a
single defect or a
syndrome
 It includes,
1.Congenital cataract,
2.congenital glaucoma,
3.color blindness,
4.congenital deafness,
5.Mental retardation
6.Congenital biliary
atresia,etc

48. Microagnatha Cleft lip

49. Cleft palate Cleft paalte

50.  Genetic counseling
• It is a problem solving approach or communication
process in relation to genetic disorders or congenital
anomalies in the family.
• It is non-directive information to the individual or
family who discuss the importance to their own
situations.
• It is of two types.They are
a. Prospective genetic counseling
b. Retrospective genetic counseling

51.  Prospective genetic counseling:
o It is for true prevention of disease
o It aims at preventing or reducing heterozygous marriage
by screening procedures and explaining the risk of
affected children.
 Retrospective genetic counseling:
o It is done after a hereditary disorder has already
occurred.
o Methods:
a) Contraception
b) MTP
c) Sterilization

52.  Discourage consanguineous marriages
 Avoid late marriage and pregnancy > 35 years
 Promotion of health of girl child and pre pregnant health
status of the females by prevention of
malnutrition,anemia,folic acid deficiency,iodine
deficiency,etc.
 Encourage the immunization of all female child by MMR.
 Protection of individuals & whole communities against
mutagens (X-ray,drugs ,alcohol)
 Immunization by anti-D immunoglobin to the Rh-negative
mothers after abortion.
 Elimination of active and passive smoking of tobacco by
mothers.

53.  Avoidance of drug intake without consulting physician
in the first trimester of pregnancy.
 Prevention of intrauterine infections and promotion of
sexual hygiene.
 Efficient antenatal care.
 Promotion of therapeutic abortion after prenatal
diagnosis.
 Discouraging reproduction after birth of a baby with
congenital anomalies.
 Increasing public awreness about the risk factors and
etiological factors of congenital anomalies and their
preventive measures.