PENTALOGY OF CANTRELL WITH COMPLETE ECTOPIA CORDIS IN A FETUS WITH ASPLENIA

Cantrell's Pentalogy (CP) is a rare, mainly sporadic spectrum of congenital midline thoracoabdominal defects including sternal anomalies, ventral diaphragmatic hernia, partial absence of the pericardium, supraumbilical abdominal wall defects and congenital heart malformations. The approximate incidence is 1 in 100000, with a 2:1 male predominance. Case: A 25 year-old pregnant woman was referred to the Prenatal Diagnosis Unit of the University Hospital of Padua for multiple congenital malformations at 21 weeks of gestation. A II level ultrasound scan was performed confirming the presence of multiple anomalies compatible with the diagnosis of Cantrell's Pentalogy (CP) associated with complete ectopia cordis. Fetal authopsy furthermore revealed asplenia, which usually presents as part of the heterotaxia spectrum. To our knowledge an association of CP and complete ectopia cordis with asplenia has never been reported so far.