Pentalogy of Cantrell is a rare congenital anomaly characterized by a spectrum of midline thoracoabdominal defects involving the abdominal wall, sternum, diaphragm, pericardium, and heart. We report a case of a 32-year-old primigravida diagnosed during a routine second-trimester anomaly scan with a fetus demonstrating a large supraumbilical abdominal wall defect with herniated viscera, ectopia cordis, and associated diaphragmatic and sternal defects. Additional findings included cystic hygroma and kyphoscoliosis. The constellation of findings fulfilled Toyama Class I criteria for complete pentalogy of Cantrell. Following multidisciplinary counseling regarding the poor prognosis, the pregnancy was medically terminated. Post-termination fetal examination confirmed the prenatal imaging findings and classical pentad. This case highlights the critical role of targeted antenatal ultrasound in early diagnosis, differentiation from similar anomalies, and guiding timely clinical decision-making.
Jain et al. (Sat,) studied this question.