congenitalanomalies-160922061120.hahaha.pdf

Cong anamolies

1. CONGENITAL
ANOMALIES

2. •It includes all
biochemical,structuraland
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.iodinedeficiency(MR) &
folic acid deficiency(CNS
Defects).

6. A) GENETIC FACTORS:
Chromosomal abnormalities-eg.Down’s
syndrome
Single gene disorders
* Autosomalinheritance
.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 multifactorialinheritance
.combination of polygenic &
environmental factors

7. B) ENVIRONMENTAL:
Intra uterine infections –STORCH
(Syphilis,Toxoplasmosis,Rubella,cytomegalaovirusand 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 -bicornuateuterus,septed
uterus,polyhydramnios,etc.,
Maternal addiction -alcohol, tobacco & smoking
Environmental pollution -air.

9. oAmniocentesis at 14-16 weeks.
oChorionic villisampling.
oMaternal serum alpha-feto
protein & gonadotrophin.
oUSG.
oAmniography.
oFetoscopy
oProtein assay,DNAdiagnosis
oRadiography
oAntenatal screening
oChromosomal abnormalities
and inborn errors of
metabolism
oCytogenicstudy
oNeural tube defect & trisomy
oFetal profile
oSoft tissue abnormalities
oWellbeing of the fetus
oMaternal disease,metabolic&
endocrine functions.

10. oMaternal and family
history
oPhysical examination
oBiochemical assay
oCytogenicstudy
oBlood test
oHormonal assay
oRadiography
oUSG
oEarly detection
oAppropriate management

11. COMMON
CONGENITAL
ANOMALIES

12. ANENCEPHALY MENINGOENCEPHALOCELE -

13. A.Normalspine
B.Spinabifida occulta
C.Meningocele
D.Meningomyelocele

14. Meningocele
Meningomyelocele

15. Hydrocephalus Microcephaly

16. Macrocephaly Syringomyelia

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

18. Ventricular septaldefect(VSD)
Atrialseptaldefect(ASD)
Patent ductusarteriosus(PDA)
Co-arctationof aorta
Transposition of great vessels
Tricuspid atresia
Aortic stenosis
Pulmonicstenosis
Fallot’stetralogy
Mitral or aortic regurgitation
Dextrocardia

19. Ebstein’sanomaly

20. Tracheo-esophageal fistula Esophageal atresia

21. Pyloric stenosis Duodenal atresia

22. Meconiumileus
Hirscprungdisease(congenital
megacolon)

23. Exomphalos Gastroschisis

24. Diaphragmatic hernia Umbilical hernia

25. Femoral hernia Intestinal obstruction

26. Choanalatresia 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. Undescendedtestis 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. Marfansyndrome-hand Marfansyndrome-feet

39. OTHERS:
Muscular dystrophy
Congenital scoliosis
Osteogenesisimperfecta

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 adrenogenital hyperpalsia
Diabetes mellitus

44. Down’s syndrome(Trisomy-21)

45. Edward’s syndrome

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

47. Many congenital anomalies
do not fit into particular
categories of either
metabolior 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.Theyare
a.Prospective genetic counseling
b.Retrospective genetic counseling

51. Prospective genetic counseling:
oIt is for true prevention of disease
oIt aims at preventing or reducing heterozygous marriage
by screening procedures and explaining the risk of
affected children.
Retrospective genetic counseling:
oIt is done after a hereditary disorder has already
occurred.
oMethods:
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,folicacid 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 immunoglobinto 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 awrenessabout the risk factors and
etiological factors of congenital anomalies and their
preventive measures.