Genetic examination for fetuses with increased nuchal translucency by exome sequencing

• Published in: The journal of obstetrics and gynaecology research Vol. 49; no. 2; pp. 530 - 538
• Main Authors: Sun, Yuanyuan, Liu, Ling, Zhi, Yunxiao, Li, Ying, Tian, Weifang, Yang, Bo, Ye, Xiaoxue, Cui, Shihong
• Format: Journal Article
• Language: English
• Published: Kyoto, Japan John Wiley & Sons Australia, Ltd 01.02.2023; Wiley Subscription Services, Inc
• Subjects: Chromosomes; Congenital defects; Dysplasia; Exome Sequencing; Female; Fetus - diagnostic imaging; Fetuses; genetic counseling; genomic variants; Genotypes; Humans; Noonan's syndrome; nuchal translucency; Nuchal Translucency Measurement; Phenotypes; Pregnancy; prenatal diagnosis; Retrospective Studies; Thanatophoric Dysplasia; Ultrasonography, Prenatal; genetic counseling; genomic variants; exome sequencing; nuchal translucency; prenatal diagnosis

Aim This retrospective study aimed to investigate the value of exome sequencing (ES) in fetuses with isolated first‐trimester increased nuchal translucency (NT) and normal chromosomes. Methods ES was performed on 103 fetuses with isolated first trimester increased NT and normal chromosomes. The dete...