Dr.Suresh Babu ChaduvulaProfessor

Department of OBGYNCollege of Medicine, KKU, Abha, KSA.

Incidence : 2- 5 %

Perinatal deaths – 20 %

CNS malformations – 50 %

Physical and Mental disabilities

GENETIC:

Trisomies – Down’s, Edward’s, Patau’s syndromes [6%]

Single gene disorders – Autosomal and X linked disorders [5%]

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

Alcohol:

Hypoxia:

Multifactorial: [20%] – Neural tube defects, Congenital heart defects, cleft lip and palate

Idiopathic – 60%

Advanced maternal age – above 40 years – Down’s syndrome or Mongolism

High Parity – at risk for malformations except Anencephaly and spinabifida

1. Teratogenic agent: dose

2. Duration of gestation and exposure

3.Genetic susceptibility of the fetus and feto-maternal immune response

Growing fetus is still affected following organogenesis like:

Intrauterine death

IUGR

Functional disorders

1. Folic acid deficiency 2. Epoxides and Arena oxides 3. Genetic – mutations 4. Maternal Diseases 5. Homeobox genes – regulatory genes

- over expressed during organogenesis

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

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

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.,

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

Imperforate anus

Tracheo-oesophageal fistula

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 because1. The foetal parts are more crowded2. The liquor volume is lesser3. Gross foetal movements are lesser and 4. The foetal bones shadow densely.

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

Head and neck Cerebellum Choroid plexus Cisterna magna Lateral cerebral ventricles Midline falx Cavum septi pellucidiChest 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.

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 spineExtremities Legs and arms (presence or absence)Gender Medically indicated in low-risk pregnancies only For evaluation of multiple gestations

Lack of development Bilateral renal agenesis

Insufficient development Microcephaly

Redundant development Polydactyly

Incomplete closure Neutral tube defects

Incomplete separation Syndactyly

Aberrant morphogenesis Mediastinal thyroid

Incomplete migration Pelvic kidney

20www.neurochirurgie-zwolle.nl/ spina.html

Spina bifida

Anencephaly

Defects of neurulation: failure of the neural fold to close

22

23

24

25

27

Anencephaly

spina bifida

Bilateral cleft lip with cleft palate

Gastroschisis

Omphalocele

Ambiguous genitalia

Twin-Twin Transfusion Syndrome

Cystic Hygroma

Sacrococcygeal teratoma

Bladder exstrophy

Thank You All & All the Best