HEREDITARY MULTIPLE INTESTINAL ATRESIA - ULTRASOUND FINDINGS AND OUTCOME OF PREGNANCY IN AN AFFECTED CASE

A case of multiple intestinal atresia is described. Dilatation of the bowel was observed at 17 weeks' gestation during routine ultrasound sc an of a healthy Caucasian primigravida from a non-consanguineous marri age. Amniocentesis was performed. The karyotype was normal male and cy stic fibrosis screening was negative. Regular scans were performed thr oughout the pregnancy and a simple bowel obstruction was suspected. Th e baby was delivered at 37 weeks' gestation in good condition. Initial clinical examination was normal but abdominal distension developed du ring the first day. At laparotomy, prepyloric septal atresia, a distal duodenal membrane, and multiple intestinal atresia were found. The ba by died aged 4 days. Post-mortem examination of the abdomen confirmed the absence of lumen from long segments of the small intestine togethe r with areas of colonic atresia. Histology and distribution were consi stent with those reported in familial multiple intestinal atresia. The pitfalls in the interpretation of prenatal ultrasound scans and the p ossibility of prenatal diagnosis in future pregnancies are discussed.