VP15.11: Pentalogy of Cantrell: a rare, not‐to‐be‐missed pathology in the first trimester

Abstract

In 1958, Cantrell first described the full spectrum of Cantrell's Pentalogy (CP), an extremely rare and usually fatal disorder. The full spectrum includes five anomalies: an omphalocele, anterior diaphragmatic hernia, sternal cleft, cardiac ectopy, intracardiac defect (a ventricular septal defect or a left ventricular diverticulum). We report a case of Cantrell's Pentalogy. The patient is a 26 year-old female, without any notable pathological history. She's in a first degree consanguineous marriage. No similar case in the family was detected, gravida 2 para 1. The patient was referred to us at 12 weeks and 4 days since last menstrual period (LMP) for the detection of a heart in an extra-thoracic position. The ultrasound performed at 12 weeks and 4 days since LMP showed a progressive mono-fetal pregnancy in relation to the estimated date of delivery. The nuchal translucency measurement was normal. A poly-malformative syndrome accompanied by an omphalocele, a diaphragmatic hernia and a cardiac ectopy, was confirmed. No brain or extremity abnormalities were suspected. The patient benefited from a termination of the pregnancy and the anatomopathological examination confirmed the diagnosis. The reported case had three elements of Cantrell's Pentalogy. It is thanks to the ultrasound of the first trimester that we were able to diagnose this extremely rare pathology with an unfavourable prognosis.