In utero sonographic findings in a fetus with a hereditary multiple intestinal atresia.

Hereditary multiple intestinal atresia is a rare syndrome with an autosomal recessive pattern of inheritance. We described the antenatal sonographic appearance of a case of hereditary multiple intestinal atresia. A markedly dilated cystic mass noncommunicating with the stomach was observed in the right upper quadrant of the fetal abdomen by an ultrasound scan at 30 weeks of gestation. Real-time sonographic evidence of strong peristaltic activity was not demonstrated. The infant weighing 2315 g was delivered at 35 week's gestation with Apgar scores of 7 and 9 at 1 and 5 minutes, respectively. At laparotomy, a prepyloric septal atresia, multiple-level small intestinal atresias and a rectal diaphragm were discovered. The infant died 52 days after the operation. The sonographer should be aware that a proximal bowel distention can be associated with hereditary multiple intestinal atresia in patients with a family history of an affected sibling.