The Use of 2- and 3-Dimensional Sonographic Scans in the Evaluation of Cranial Sutures Prenatal Diagnosis of Apert Syndrome

Prenatal diagnosis of Apert syndrome has been limited by the difficulty in assessing cranial sutures with 2-dimensional (2D) sonographic scans, and the diagnosis is often made during the third trimester. We present a case in which we used the transparent maximum mode with a 3-dimensional (3D) sonographic scan to assess cranial sutures. Premature closure of the coronal suture can be shown in both 2D and 3D scans, whereas the widely opened metopic suture is best shown with the 3D scan. The presence of craniosynostosis, cardiac abnormalities, and syndactyly enables a targeted molecular test to confirm the diagnosis prenatally during the second trimester.