Clinical and radiological characterization of cantrell's pentalogy: a fatal case in advanced gestation

Abstract

Cantrell’s Pentalogy is a rare congenital anomaly characterized by defects in the pericardium, heart, anterior diaphragm, lower third of the sternum, and supraumbilical abdominal wall, associated with an unfavorable prognosis. This study aimed to describe the clinical, radiological, and anatomical features of a prenatal case of Cantrell’s Pentalogy associated with ectopia cordis, emphasizing the identification of structural defects and their correlation with associated malformations. The method included a case report of a 15-year-old pregnant woman with a prenatal diagnosis made through advanced ultrasound at 22 weeks of gestation, complemented by pending postmortem cytogenetic analysis after therapeutic termination of the pregnancy. The findings revealed midline thoracoabdominal defects, ectopia cordis, median cleft lip and palate, and craniofacial abnormalities, consistent with a complete form of Cantrell’s Pentalogy. These findings were confirmed through postmortem fetal analysis, highlighting the importance of early prenatal diagnosis to guide ethical and medical decisions. It is concluded that Cantrell’s Pentalogy represents a unique diagnostic and therapeutic challenge, where detailed ultrasound evaluation allows for comprehensive perinatal management and improved parental counseling. This study contributes to the understanding of this rare entity by documenting an infrequent case with additional manifestations, underscoring the need for a multidisciplinary approach and ongoing research to improve outcomes in future cases.