Prenatal diagnosis of Fraser syndrome caused by novel variants of FREM2

• Published in: Human genome variation Vol. 7; no. 1; p. 32
• Main Authors: Ikeda, Shoko, Akamatsu, Chika, Ijuin, Akifumi, Nagashima, Ami, Sasaki, Megumi, Mochizuki, Akihiko, Nagase, Hiromi, Enomoto, Yumi, Kuroda, Yukiko, Kurosawa, Kenji, Ishikawa, Hiroshi
• Format: Journal Article
• Language: English
• Published: London Nature Publishing Group UK 2020; Springer Nature B.V
• Subjects: 631/208; 631/208/2489/144; Airway management; Ascites; Biomedical and Life Sciences; Biomedicine; Cell adhesion & migration; Data Report; Families & family life; Fetuses; Gene Expression; Gene Function; Gene Therapy; Genomes; Human Genetics; Lungs; Molecular Medicine; Mutation; Proteins; Siblings; Ultrasonic imaging; Genetics; Disease genetics

Fraser syndrome (FS) involves multiple malformations and has a 25% recurrence risk among siblings. However, these malformations are difficult to detect prenatally, hampering prenatal diagnosis. Here, we describe a fetus with FS diagnosed using ultrasonography. Ultrasonography revealed congenital hig...