Prenatal diagnosis of sirenomelus with color Doppler ultrasonography

Abstract

Sirenomelus is an invariably lethal congenital anomaly characterized by complete or nearly complete fusion of the lower extremities that occurs in 1 of 60,000 births. In about 50% of cases this condition cannot be diagnosed prenatally because of the associated oligohydramnios that precludes a detailed examination of the fetus. We present a case of sirenomelus in which prenatal diagnosis was aided by color Doppler ultrasonography; visualization of the vitelline artery as a single, large intraabdominal vessel that did not branch in the fetal pelvis but rather coursed ventrally into the umbilical cord proved to be diagnostic of this rare condition. Color Doppler flow ultrasonography is a valuable tool for the prenatal diagnosis of sirenomelus. Sirenomelus is an invariably lethal congenital anomaly characterized by complete or nearly complete fusion of the lower extremities that occurs in 1 of 60,000 births. In about 50% of cases this condition cannot be diagnosed prenatally because of the associated oligohydramnios that precludes a detailed examination of the fetus. We present a case of sirenomelus in which prenatal diagnosis was aided by color Doppler ultrasonography; visualization of the vitelline artery as a single, large intraabdominal vessel that did not branch in the fetal pelvis but rather coursed ventrally into the umbilical cord proved to be diagnostic of this rare condition. Color Doppler flow ultrasonography is a valuable tool for the prenatal diagnosis of sirenomelus.