HDlive Studio and HDlive Silhouette Mode for Antenatal Diagnosis of Apert Syndrome

JOURNAL TITLE: Donald School Journal of Ultrasound in Obstetrics and Gynecology

1. Kenta Yamamoto
2. Ayumi Mori
3. Mohamed Ahmed Mostafa AboEllail
4. Kosuke Koyano
5. Takashi Kusaka
6. Emiko Nitta
Publishing Year
Author Affiliations
    1. Department of Perinatology and Gynecology, Kagawa University Graduate School of Medicine, Kagawa, Japan
  • Article keywords
    3D ultrasound, Antenatal diagnosis, Apert syndrome, Fetus, HDlive Studio, HDlive silhouette mode


    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 fontanels. 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 g 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.

    © 2019 Jaypee Brothers Medical Publishers (P) LTD.   |   All Rights Reserved