Implementation of fragile X syndrome carrier screening during prenatal diagnosis: A pilot study at a single center - Xi, Hui; Xie, Wanqin; Chen, Jing; Tang, Wanglan; Deng, Xiuli; Li, Hua; Peng, Ying; Wang, Dan; Yang, Shuting; Zhang, Yanan; Duan, Ranhui; Fang, Junqun; et al. (Molecular genetics & genomic medicine, 2021)
Keywords: 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