Center for Human Genetics, University of Leuven, Belgium.
Case report
A multipara, A1P4G6, first time presented at 12 weeks of pregnancy. NT screening was normal but some echodense bowel with focal dilatation was found. Follow-up of the pregnancy showed polyhydramnios and strongly dilated bowel loops from proximal part, very little stomach, atrioventricular septal defect. Karyotype was normal 46, XY. The parents preferred continuation of the pregnancy. The neonate was delivered prematurely at 33 weeks (1800 g) and has an esophageal atresia with tracheoesophageal fistula (treated at the day 0 with end-to-end anastomosis) anal atresia (treated with colostomy). Cardiac atrioventricular septal defect with lethal pulmonary hypertension lead to death of the neonate at the fifth postnatal day.
Videos 1, 2: Video 1: 12 weeks of pregnancy; the video shows a focal dilatation of bowels. Video 2: second trimester scan; four-chamber view of the heart showing atrioventricular septal defect.