Prenatal diagnosis of vertebral deformities associated with pentalogy of Cantrell: the role of three-dimensional sonography?

Abstract

Pentalogy of Cantrell was diagnosed in a fetus at 14 weeks of gestation, on routine two-dimensional sonographic examination with Doppler imaging, which revealed a midline supraumbilical abdominal wall defect including herniated liver, an ectopia cordis without intracardiac anomalies, and a large omphalocele containing intestines. Although left unilateral club foot deformity was also detected as an associated anomaly in the same examination, severe lumbar lordoscoliosis was only detected by using three-dimensional sonography because of the spatial configuration of the deformity. After termination of the pregnancy, postnatal inspection of the fetus confirmed the diagnosis of pentalogy of Cantrell associated with skeletal deformities and revealed low implant ears as an additional finding. Although two-dimensional sonography with Doppler imaging is sufficient to diagnose pentalogy of Cantrell, it may fail to show the complex vertebral deformities and three-dimensional sonography may assist in visualizing the defect accurately.