Transcript Congenital-Anomalies-(SlideShow)
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
1.
2.
3.
4.
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.
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 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 development Insufficient development Redundant development Incomplete closure Incomplete separation Aberrant morphogenesis Incomplete migration Bilateral renal agenesis Microcephaly Polydactyly Neutral tube defects Syndactyly Mediastinal thyroid Pelvic kidney
Anencephaly Defects of neurulation: failure of the neural fold to close Spina bifida
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