Prenatal diagnosis of pentalogy of cantrell: A case report

Abstract

Introduction: Pentalogy of Cantrell (POC) is a rare congenital syndrome involving midline defects of the sternum, diaphragm, abdominal wall, pericardium, and heart. Prenatal diagnosis is critical for counseling and planning perinatal management. Methods: This case report describes a 28-year-old pregnant woman diagnosed with POC in her fetus at 20 weeks’ gestation at a secondary care center in 2024. Diagnosis was confirmed using two-dimensional (2D) ultrasound and fetal echocardiography, with findings validated postnatally. Results: Ultrasound revealed an omphalocele, ectopia cordis, and diaphragmatic hernia, with echocardiography confirming a ventricular septal defect (VSD) and partial sternal agenesis. After extensive counseling, the pregnancy was terminated due to poor prognosis. Autopsy confirmed all prenatal findings. Discussion: Prenatal ultrasound and echocardiography enable early POC detection, distinguishing it from isolated defects. The case highlights diagnostic challenges and the importance of multidisciplinary management in severe congenital anomalies. Conclusion: POC requires early prenatal diagnosis to guide parental decision-making and optimize care. Further research is needed to improve diagnostic precision and therapeutic options.