Monday, December 8, 2014


Along with the finding above, the ultrasound of the fetus shows a massive midline thoracoabdominal wall defect. There is a large wide-based amnioperitoneal sac inserting onto the placental chorionic plate; there's no umbilical cord. There is severe scoliosis, malrotation of the limbs, and club feet. The maternal AFP is markedly elevated.

Challenge: Unfortunately, this disease is lethal; what is it?

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1 comment:

Craig Chen said...


Body-stalk anomaly, also called limb-body wall complex, is a massively disfiguring lethal malformation of the thorax and abdomen. The intrathoracic and abdominal organs lie outside the abdominal cavity and are contained within a sac comprised of amnioperitoneal membrane attached directly to the placenta. The ultrasound shows ectopia cordis, the heart protruding through a defect in the chest wall.

Source: UpToDate.