Dr.Suresh Babu Chaduvula Professor Department of OBGYN College 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 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

 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 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.

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 weeks  Therefore, GI and Urinary abnormalities can be diagnosed only after 14 week  Foetal epidermal keratinisation occurs around 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 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.

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

Lack of developmentBilateral renal agenesis Insufficient developmentMicrocephaly Redundant development Polydactyly Incomplete closure Neutral tube defects Incomplete separation Syndactyly Aberrant morphogenesis Mediastinal thyroid Incomplete migrationPelvic kidney

20 spina.html Spina bifida Anencephaly Defects of neurulation: failure of the neural fold to close

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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