Prenatal diagnosis of prune-belly syndrome at 13 weeks of gestation: case report and review of literature

Abstract

We present a case report of a foetus with Prune-Belly syndrome (PBS) which was diagnosed sonographically during the 13th week of gestation and review of the literature. Sonographic diagnosis was based on abnormally distended urinary bladder and abdomen and absence of 'keyhole sign'. Termination was performed on parental request and post-mortem examination revealed absence of abdominal wall musculature and the distended urinary bladder in a male foetus. Prenatal diagnosis of PBS is based on ultrasound and is usually diagnosed in the second trimester. In the first trimester there are very few reports to date. Prognosis and possible treatment options are herein discussed as well as the underlying mechanisms that may explain the clinical presentation of the syndrome.