Pentalogy of Cantrell: embryofetoscopic diagnosis.

Embryofetoscopy is an endoscopic technique that permits a direct visualization and morphologic study of embryos during the first and early second trimester. We report the early prenatal diagnosis of a case of Pentalogy of Cantrell combining data obtained by 2-dimensional and 3-dimensional ultrasonography and embryofetoscopy. Morphologic examination focused on a large omphalocele protruding from the anterior abdominal wall as an oval pulsating mass, measuring approximately 3 cm. The visualization of an omphalocele with ectopia cordis without other malformations confirmed the diagnosis of Pentalogy of Cantrell (class III). Currently, embryofetoscopy allows direct visualization of the embryo in vivo, enabling accurate diagnosis of developmental defects and yielding additional insights into developmental disorders in the embryo.