Pentalogy of Cantrell: An extremely rare congenital anomaly diagnosis in the first trimester screening

Introduction Pentaloy of cantrell is a rare congenital syndrome characterised by varying degrees of midline thoracoabdominal wall defect resulting from defective development in the septum transversum. Ectopia cordis, defined as a developmental defect in which the heart is abnormally located partially or totally outside the thorax, is in some cases a part of this syndrome. Case report A 29-year-old pregnant woman gravida: 1 para: 0 was referred to our service for fetal posture anomaly at 12 +4 week of gestation. Ultrasonographic examination revealed ectopia cordis, omphalocle and a diaphragmatic defect. Medical pregnancy termination was indicated. Discussion Incidence of the PC varies from 5.5 to 7.9 per million live births. The etiology of PC is unknown. Most cases are sporadic, and no recurrences have been reported. The constellation of defects observed in pentalogy of cantrell is thought to result from the abnormalities in the differentiation of the intraembryonic mesoderm at approximately 14 to 18 days after conception. Sternal defects include bifid sternum (26%), absent xiphoid (10%) and absent lower 2/3 of sternum (9%). Anterior abdominal wall defect is mostly an omphalocele (63%). A ventral retrosternal defect of the diaphragm occurs in 91% of the cases. With prenatal ultrasonography, PC can usually be diagnosed as early as 10 weeks of pregnancy. Conclusion In conclusion, early diagnosis is feasible in the first trimester if ectopia cordis and omphalocele exist. Development in ultrasound technology provides us better visualization and early diagnosis. Termination is the choice of treatment. Early diagnosis gives us a chance to reduce maternal morbidity and mortality related to termination.