Diagnosis of Pentalogy of Cantrell in the First Trimester Using Transvaginal Sonography and Color Doppler

Abstract

We report the prenatal diagnosis of Cantrell syndrome in the first trimester. During a routine transabdominal ultrasonographic examination, a midline supraumbilical abdominal wall defect including herniated liver and ectopia cordis with a large omphalocele containing the intestines and cystic hygroma was incidentally identified at the 12th week of gestation. A transvaginal sonography examination revealed a severe lumbosacral scoliosis in addition to the inability to visualize the abdominal aorta which was indicative of a severe intracardiac defect. The parents opted for pregnancy to be terminated. In this case report, we discuss the complementary role of transvaginal sonography and Doppler imaging in the diagnosis of Cantrell syndrome in early pregnancy.