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Congenital Anomalies of Foetus

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  1. Congenital Anomalies of Foetus Dr.SureshBabuChaduvula Professor Department of OBGYN College of Medicine, KKU, Abha, KSA.

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

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

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

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

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

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

  8. Importance after Organogenesis • Growing fetus is still affected following organogenesis like: • Intrauterine death • IUGR • Functional disorders

  9. Teratogenecity or Pathogenesis • 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. Maternal and Fetal drug transfer • 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. FDA Risk Categories for Drugs and Medications • 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. Diagnosis • 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. Investigations • MSAFP • CVS • USG • Amniocentesis • Triple test – MSAFP, HCG, Estriol • Cordocentesis • Fetoscopy • 3D or 4D USG • Preimplantation genetic diagnosis

  14. Postnatal diagnosis • Imperforate anus • Tracheo-oesophageal fistula

  15. WHEN ? • 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 • The foetal parts are more crowded • The liquor volume is lesser • Gross foetal movements are lesser and • The foetal bones shadow densely.

  16. WHAT ? 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. HOW ?Protocol for TIFFA 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. HOW ?Protocol for TIFFA 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. Defects of neurulation: failure of the neural fold to close Anencephaly Spina bifida www.neurochirurgie-zwolle.nl/ spina.html

  20. Anencephaly

  21. spina bifida

  22. Bilateral cleft lip with cleft palate

  23. Gastroschisis

  24. Omphalocele

  25. Ambiguous genitalia

  26. Twin-Twin Transfusion Syndrome

  27. Cystic Hygroma

  28. Sacrococcygeal teratoma

  29. Bladder exstrophy

  30. Thank You All & All the Best