Body stalk anomaly: antenatal sonographic diagnosis of this rare entity with review of literature

Abstract

Body stalk anomaly is a rare and severe malformation syndrome in which the exact pathophysiology and trigger factors are still unknown. Possible causes of body stalk anomaly include early amnion rupture with direct mechanical pressure and amniotic bands, vascular disruption of the early embryo, or an abnormality in the germinal disk. We present a case of body stalk anomaly diagnosed during antenatal sonographic evaluation at the first visit with the review of literature regarding this phenomenon. Sonographic features of the fetus included a severe midline defect of the fetal abdominal wall with a large extra-abdominal mass containing bowel and liver inside. Body stalk anomaly is accepted as a fatal anomaly, so it is important to differentiate it from other anterior wall defects for evaluating the management options.