Changing findings in pentalogy of cantrell in fetal life

Abstract

Pentalogy of Cantrell is the association of five features: a midline anterior ventral wall defect, a diaphragmatic defect, a cleft distal sternum, a defect of the apical pericardium with communication into the peritoneum, and an intracardiac defect. This is a complex abnormality that requires multiple surgical procedures, but which can be successfully treated postnatally with staged surgery. Three recent cases demonstrated features in prenatal life that were unexpected to us, and which we felt were worthy of description. The diagnosis of the pentalogy of Cantrell was made at 11, 16 and 14 weeks. Two of the three had an increased nuchal translucency measurement. All three fetuses had a major abdominal wall defect with a significant degree of protrusion of the cardiac ventricles outside the chest at the initial scan. At 20 and 26 weeks, the heart was seen to be within the chest with no protrusion, even of the apex. An intracardiac malformation was found prenatally in two of three cases. There were no karyotype anomalies and all three cases survived despite multiple operations. At the time of writing they were aged 2, 5 and 8 years. The ultrasound findings in all three cases showed an evolving pattern during gestation, with a greater degree of protrusion of the heart through the lower sternal defect into the exomphalos in the early scans than was present later. The possibility of an improvement in the findings has some bearing on counseling in early pregnancy in this complex condition. Copyright © 2008 ISUOG. Published by John Wiley & Sons, Ltd.