Congenital anomalies

peds

1. CONGENITAL ANOMALIES

2. DEFINITIONS

3. INCIDENCE

4. RISK FACTORS:

5. ETIOLOGY:

6. ETIOLOGY: 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. ETIOLOGY: 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.

8. DIAGNOSTIC APPROACHES

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

10. POSTNATAL DIAGNOSIS: @ DIAGNOSIS @ Maternal and family history Physical examination Biochemical assay Cytogenic study Blood test Hormonal assay Radiography USG @ PURPOSE @ Early detection Appropriate management

11. COMMON CONGENITAL ANOMALIES

12. CEnTRAL NERVOUS SYSTEM ANENCEPHALY MENINGOENCEPHALOCELE-

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

14. CEnTRAL NERVOUS SYSTEM Meningocele Meningomyelocele

15. CEnTRAL NERVOUS SYSTEM Hydrocephalus Microcephaly

16. CEnTRAL NERVOUS SYSTEM Macrocephaly Syringomyelia

17. CEnTRAL NERVOUS SYSTEM OTHERS: Agenesis of cranial nerves porencephaly

18. CONGENITAL HEART DISEASES 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. CONGENITAL HEART DISEASES Ebstein’s anomaly

20. GI SYSTEM ABNORMALITIES Tracheo -esophageal fistula Esophageal atresia

21. GI SYSTEM ABNORMALITIES Pyloric stenosis Duodenal atresia

22. GI SYSTEM ABNORMALITIES Meconium ileus Hirscprung disease(congenital megacolon )

23. GI SYSTEM ABNORMALITIES Exomphalos Gastroschisis

24. GI SYSTEM ABNORMALITIES Diaphragmatic hernia Umbilical hernia

25. GI SYSTEM ABNORMALITIES Femoral hernia Intestinal obstruction

26. RESPIRATORY SYSTEM ABNORMALITIES Choanal atresia Pulmonary agenesis

27. RESPIRATORY SYSTEM ABNORMALITIES OTHERS Tracheo -esophageal fistula Congenital atelectasis Congenital stridor Congenital cyanosis

28. GENITOURINARY SYSTEM ABNORMALITIES Renal agenesis Hydronephrosis

29. GENITOURINARY SYSTEM ABNORMALITIES Polycystic kidney Horse shoe kidney

30. GENITOURINARY SYSTEM ABNORMALITIES Hypospadias Phimosis

31. GENITOURINARY SYSTEM ABNORMALITIES Undescended testis Hydrocele

32. GENITOURINARY SYSTEM ABNORMALITIES OTHERS: Posterior Urethral valve(PUV) Congenital inguinal hernia Malformations of reproductive organs

33. MUSCULOSKELETAL ABNORMALITIES Club foot( talipes ) Club foot-types

34. MUSCULOSKELETAL ABNORMALITIES Congenital dislocation of hip Dislocated hip baby

35. MUSCULOSKELETAL ABNORMALITIES Polydactyl Webbed fingers

36. MUSCULOSKELETAL ABNORMALITIES Amelia and phocomelia

37. MUSCULOSKELETAL ABNORMALITIES Hurler syndrome

38. MUSCULOSKELETAL ABNORMALITIES Marfan syndrome-hand Marfan syndrome-feet

39. MUSCULOSKELETAL ABNORMALITIES OTHERS: Muscular dystrophy Congenital scoliosis Osteogenesis imperfecta

40. BLOOD DISORDERS Thalassemia Hemophilia Sickle cell Anemia Congenital spherocytosis

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

42. ENDOCRINE ABNORMALITIES Congenital hypopituitarism (Dwarfism) Congenital goiter

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

44. CHROMOSOMAL ABNORMALITIES Down’s syndrome(Trisomy-21)

45. CHROMOSOMAL ABNORMALITIES Edward’s syndrome

46. CHROMOSOMAL ABNORMALITIES OTHERS: Turner’s syndrome Klinefelter’s syndrome

47. MISCELLANEOUS 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. MISCELLANEOUS Microagnatha Cleft lip

49. MISCELLANEOUS Cleft palate Cleft paalte

50. PREVENTION: 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 Prospective genetic counseling Retrospective genetic counseling

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

52. PREVENTION: 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. PREVENTION: 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.