Pentalogy of Cantrell is a rare congenital condition characterized by a combination of 5 severe midline defects, including cardiac malformations, pericardial defects, sternal malformations, diaphragmatic defects, and abdominal wall defects. A 31-year-old primigravida at 12 weeks of gestation visited our hospital in December 2022 for cough and expectoration. Two-dimensional ultrasound revealed thoracoabdominal wall defects, an extrathoracic heart, liver displacement, and intestinal tubes protruding from the umbilicus, indicating key features of pentalogy of Cantrell. After a multidisciplinary consultation on the malformation's severity and treatment options, the family chose to terminate the pregnancy. A postmortem confirmed the ultrasound findings. This case highlights the critical role of routine prenatal ultrasound examinations in detecting rare congenital malformations.
Peng et al. (Fri,) studied this question.