dr.suresh babu chaduvula professor department of obgyn college of medicine, kku, abha, ksa
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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
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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
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