First-trimester sonographic diagnosis of Cantrell's pentalogy with exencephaly.

Abstract

We report a case of Cantrell's pentalogy with exencephaly detected by sonography at 11 weeks 4 days' menstrual age and confirmed at autopsy. Cantrell's pentalogy consists of defects of the lower sternum, anterior diaphragm, midline supraumbilical abdominal wall, and diaphragmatic pericardium with ectopia cordis. Exencephaly involves acrania with a disorganized mass of brain tissue. Both conditions are rare; the combination of the 2 has been reported only twice before. To our knowledge, this is the earliest reported diagnosis of the 2 conditions by prenatal sonography.