Congenital anomalies of foetus

Congenital anomalies of baby are not uncommon. They do occur sporadiacally. They may be major or minor malformations.
They may be lethal and irreparable sometimes.

1. Dr.SureshBabuChaduvula
Professor
Department of OBGYN
GIMSR
Visakhapatnam, AP, India

2. Incidence : 2-5 %
Perinatal deaths –20 %
CNS malformations –50 %
Physical and Mental disabilities

3. GENETIC:
Trisomies –Down’s, Edward’s, Patau’s
syndromes [6%]
Single gene disorders –Autosomal and X
linked disorders [5%]

4. Infections: [2%]
TORCH and Parvo viral infections
Maternal Illnesses: [5%]
Diabetes, Epilepsy
Drugs: [1-2%]
Warfarin, Lithium, Phenytoin
Radiation:

5. Alcohol:
Hypoxia:
Multifactorial: [20%] –Neural tube defects,
Congenital heart defects, cleft lip and palate
Idiopathic–60%

6. Advanced maternal age –above 40 years –
Down’s syndrome or Mongolism
High Parity –at risk for malformations except
Anencephaly and spinabifida

7. 1. Teratogenic agent: dose
2. Duration of gestation and exposure
3.Genetic susceptibility of the fetus and
feto-maternal immune response

8. Growing fetus is still affected following
organogenesis like:
Intrauterine death
IUGR
Functional disorders

9. 1. Folic acid deficiency
2. Epoxides and Arena oxides
3. Genetic –mutations
4. Maternal Diseases
5. Homeobox genes –regulatory genes -over
expressed during organogenesis

10. Conception occurs at 14
th
day
Before 31 days –All or None effect
Between 31 and 71 days –Critical period
71 days to 280 days –continuous
development of internal organs and brain
occur

11. Category A –Human studies reveals no fetal
effects
Category B –Animal studies and human
studies reveal no effects
Category C –Animal studies show adverse
effect but not in humans
Category D –Evidence of fetal risk but
benefits outweigh the risks
Category X -Contraindicated

12. Genetic Counselling:
Recurrence is 6 fold and 70% in second and
third pregnancies
Age, family history, history of past
malformations
Antenatal complicatons like oligo, poly
hydramnios etc.,

13. MSAFP
CVS
USG
Amniocentesis
Triple test –MSAFP, HCG, Estriol
Cordocentesis
Fetoscopy
3D or 4D USG
Preimplantation genetic diagnosis

14. Imperforate anus
Tracheo-oesophageal fistula

15. Grosser anomalies are detected earlier
The golden period for an anomaly scan is from 18 to 28
weeks (20-24 weeks is ideal).
Attempting an anomaly ultrasound scan during the III
trimester can be frustrating because
1.The foetal parts are more crowded
2.The liquor volume is lesser
3.Gross foetal movements are lesser and
4.The foetal bones shadow densely.

16. FOETAL PHYSIOLOGICAL HALLMARKS
Foetal mid Gut rotation occurs at 9-11 weeks
This results in physiological bowel herniation
This should not be misinterpreted as an omphalocoele
Foetal swallowing & urinary out put sets in at 14-18 weeks
Therefore, GI and Urinary abnormalities can be diagnosed
only after 14 week
Foetal epidermal keratinisation occurs around 14-18 weeks.
Hence 3 D can be done only after 18 weeks

17. Head and neck
Cerebellum
Choroid plexus
Cisterna magna
Lateral cerebral ventricles
Midline falx
Cavum septi pellucidi
Chest
The basic cardiac examination
includes a 4-chamber view of the fetal heart.
If technically feasible, an extended basic cardiac examination
can also be attempted to evaluate both outflow tracts.

18. Abdomen
Stomach (presence, size, and situs)
Liver, Gall-Bladder and Spleen
Kidneys
Bladder
Umbilical cord insertion site into the fetal abdomen
Umbilical cord vessel number
Spine
Cervical, thoracic, lumbar, and sacral spine
Extremities
Legs and arms (presence or absence)
Gender
Medically indicated in low-risk pregnancies only
For evaluation of multiple gestations

19. Lack of development Bilateral renal agenesis
Insufficient development Microcephaly
Redundant development
Polydactyly
Incomplete closure
Neutral tube defects
Incomplete separation
Syndactyly
Aberrant morphogenesis
Mediastinalthyroid
Incomplete migration Pelvic kidney

20. 20
www.neurochirurgie-zwolle.nl/ spina.html
Spina bifida
Anencephaly
Defects of neurulation:
failure of the neural fold to close

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29. Anencephaly

30. spina bifida

31. Bilateral cleft lip with cleft palate

32. Gastroschisis

33. Omphalocele

34. Ambiguous genitalia

35. Twin-Twin Transfusion Syndrome

36. Cystic Hygroma

37. Sacrococcygeal teratoma

38. Bladder exstrophy

39. Thank You All
&
All the Best