Pentalogy of Cantrell: Sonographic Findings and Toyama Classification

A 39-year-old primiparous patient was referred for detailed ultrasonography at 13 weeks and four days of gestation. Examination demonstrated a large midline supraumbilical anterior abdominal wall defect with herniation of abdominal contents, consistent with an omphalocele. The fetal heart was partially located outside the thorax, consistent with ectopia cordis, and an inferior sternal defect was identified. Color and power Doppler confirmed vascular flow within the extracorporeal cardiac structures and their continuity with the fetal circulation. During real-time examination, abnormal intracardiac Doppler flow was observed, and a ventricular septal defect was identified. Deficiency of the anterior diaphragm and diaphragmatic pericardium was suspected but could not be definitively confirmed prenatally. The combination of omphalocele, ectopia cordis, an inferior sternal defect, a ventricular septal defect, and suspected diaphragmatic and pericardial abnormalities was considered most consistent with incomplete Pentalogy of Cantrell. Alternative diagnoses were considered less likely because the defect was midline and supraumbilical, the umbilical cord appeared normal, the fetal axis was relatively preserved, and no limb abnormalities or severe scoliosis were present. Following multidisciplinary counseling, the parents elected termination of pregnancy before genetic testing was undertaken. No post-procedural anatomic examination was available; therefore, pathologic and genetic confirmation was not obtained. This case illustrates that incomplete Pentalogy of Cantrell can be recognized near the end of the first trimester and that Doppler imaging can assist in characterizing associated cardiovascular abnormalities and supporting early multidisciplinary counseling.