A fetal autopsy case of body stalk anomaly

Abstract

Body stalk anomaly (BSA) is a sporadic polymalformative syndrome incompatible with extrauterine life. In utero detection of BSA by two-dimensional and three-dimensional ultrasonography and magnetic resonance imaging has been well documented. We herein describe a case of body stalk anomaly diagnosed at autopsy. The fetus had a large anterior midline abdominal wall defect with eventration of the visceral organs into the amnio-peritoneal sac and a completely absent umbilical cord. The associated anomalies included club foot, absent diaphragm, genitourinary, and gastrointestinal defects. The observed congenital anomalies supported the theory of embryonic dysgenesis as the etiologic factor. One of the major objectives in the performance of fetal autopsy is to be able to detect abnormalities that can have implications in future pregnancies. Despite the negligible familial recurrence rate of the broad spectrum of anomalies associated with this abdominal wall defect, the present case of fetal autopsy indeed delights to serve the living.