Implementation of fragile X syndrome carrier screening during prenatal diagnosis: A pilot study at a single center

• Published in: Molecular genetics & genomic medicine Vol. 9; no. 7; pp. e1711 - n/a
• Main Authors: Xi, Hui, Xie, Wanqin, Chen, Jing, Tang, Wanglan, Deng, Xiuli, Li, Hua, Peng, Ying, Wang, Dan, Yang, Shuting, Zhang, Yanan, Duan, Ranhui, Fang, Junqun, Wang, Hua
• Format: Journal Article
• Language: English
• Published: United States John Wiley & Sons, Inc 01.07.2021; John Wiley and Sons Inc; Wiley
• Subjects: Adult; Alleles; Amniocentesis; Amniotic fluid; carrier screening; Diagnosis; Families & family life; Feasibility Studies; Female; Females; Fetuses; FMR1; FMR1 gene; FMR1 protein; Fragile X syndrome; Fragile X Syndrome - diagnosis; Fragile X Syndrome - genetics; Genetic Carrier Screening - standards; Genetic Carrier Screening - statistics & numerical data; Genetic counseling; Genetic screening; Genetics; Health Plan Implementation - standards; Health Plan Implementation - statistics & numerical data; Humans; Intellectual disabilities; Maternal & child health; Mutation; Original; Pilot Projects; Pregnancy; Prenatal diagnosis; Prenatal Diagnosis - standards; Prenatal Diagnosis - statistics & numerical data; Screening; Thermal cycling; Women; carrier screening; prenatal diagnosis; FMR1; fragile X syndrome

Background Fragile X syndrome (FXS) is the most common inherited form of intellectual disability. Prenatal screening of FXS allows for early identification and intervention. The present study explored the feasibility of FXS carrier screening during prenatal diagnosis for those who were not offered s...