First trimester sonographic diagnosis of limb-body wall defect associating both cephalic and thoraco-abdominal defects - a case report and literature update

We present the first trimester prenatal ultrasonography and pathological assessment of a case diagnosed with limb-body wall complex (LBWC) presenting both exenchephaly and a complex thoraco-abdominal wall defect. Ectopia cordis is demonstrated with a movie showing the heart beating outside the body of the fetus after its expulsion. Also, we discuss the pathogenesis and possible etiology of LBWC and associated malformations and we provide an update of the literature of this very rare anomaly.

Automated summary

This article presents the first trimester prenatal ultrasound and pathological assessment of a case diagnosed with limb-body wall complex (LBWC) with exenchephaly and a complex thoraco-abdominal wall defect. It includes a movie demonstrating ectopia cordis, where the fetus's heart beats outside its body after expulsion. The article also discusses the pathogenesis, possible etiology, and provides an update on the literature of this rare anomaly.