HDlive Studio and HDlive silhouette mode for antenatal diagnosis of apert syndrome

Abstract

We present our first experience of using HDlive Studio and HDlive silhouette mode to diagnose Apert syndrome. A 31 year-old pregnant Japanese woman was referred to our hospital due to suspected skull bone abnormalities at 20 weeks and 1 day of gestation. Two-dimensional (2D) sonography showed clover leaf-like skull. HDlive Studio clearly depicted brachycephaly. An X-ray mode demonstrated broad metopic and sagittal sutures, and large anterior and posterior fontanelles. HDlive silhouette mode clearly showed closures of bilateral coronal sutures. HDlive Studio also depicted fused fingers and toes. Diagnosis of Apert syndrome was highly suggested. She was delivered vaginally of a viable female fetus at 41 weeks and 4 days of gestation. Her birth weight was 3,836 gm with an Apgar score of 7 (1 minutes) and 9 (5 minutes), and the umbilical artery pH was 7.208. Craniosynostosis and syndactyly of fingers and toes were noted. Postnatal examination confirmed the diagnosis of Apert syndrome. HDlive Studio can be a useful adjunctive diagnostic tool to confirm fetal congenital anomalies due to realistic, comprehensive images.