title: The use of cffDNA in fetal sex determination during the first trimester of pregnancy of female DMD carriers.
abstract: Chorionic villus sampling (CVS) or amniocentesis for fetal sex determination is generally the first step in the prenatal diagnosis of X-linked genetic disorders such as Duchenne muscular dystrophy (DMD). However, non-invasive prenatal diagnostic (NIPD) techniques such as measurement of cell-free fetal DNA (cffDNA) in maternal plasma are preferable given the procedure-related miscarriage rate of CVS. We determined fetal sex during the first trimester using a quantitative real-time polymerase chain reaction (PCR) assay of cffDNA in pregnant carriers of DMD. The fetal sex was confirmed by amniocentesis karyotype analysis and multiplex ligation-dependent probe amplification (MLPA) at 16 weeks. This procedure may avoid unnecessary CVS or amniocentesis of female fetuses.
authors.affiliation: Institute of Medical Genetics, Henan Provincial People's Hospital, Zhengzhou, He'nan, China.
authors.forename: Dong
authors.initials: D
authors.lastname: Wu
authors.affiliation: Institute of Medical Genetics, Henan Provincial People's Hospital, Zhengzhou, He'nan, China.
authors.forename: Qiaofang
authors.initials: Q
authors.lastname: Hou
authors.affiliation: Institute of Medical Genetics, Henan Provincial People's Hospital, Zhengzhou, He'nan, China.
authors.forename: Tao
authors.initials: T
authors.lastname: Li
authors.affiliation: Institute of Medical Genetics, Henan Provincial People's Hospital, Zhengzhou, He'nan, China.
authors.forename: Yan
authors.initials: Y
authors.lastname: Chu
authors.affiliation: Institute of Medical Genetics, Henan Provincial People's Hospital, Zhengzhou, He'nan, China.
authors.forename: Qiannan
authors.initials: Q
authors.lastname: Guo
authors.affiliation: Institute of Medical Genetics, Henan Provincial People's Hospital, Zhengzhou, He'nan, China.
authors.forename: Bing
authors.initials: B
authors.lastname: Kang
authors.affiliation: Institute of Medical Genetics, Henan Provincial People's Hospital, Zhengzhou, He'nan, China.
authors.forename: Shixiu
authors.initials: S
authors.lastname: Liao
keywords: Cell-free fetal DNA (cffDNA); Duchenne muscular dystrophy (DMD); fetal sex determination; non-invasive prenatal diagnostic (NIPD)