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.
10. Conception occurs at 14th 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
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
Mediastinal thyroid