Esophageal and duodenal atresia in a fetus with Down's syndrome: prenatal sonographic features

Abstract

Ultrasound examination of a 22-week fetus demonstrated a grossly distended stomach and proximal duodenum, with a large cystic area in the chest. There was associated polyhydramnios. A presumptive diagnosis of duodenal atresia with a congenital diaphragmatic hernia was made. Analysis of a fetal blood sample showed that the fetus had Down's syndrome. Histological examination after termination of the pregnancy revealed the unusual combination of duodenal and esophageal atresia, with an intact diaphragm.