title: Clinical application of fetal sex determination using cell-free fetal DNA in pregnant carriers of X-linked genetic disorders.
abstract: As the first step in prenatal diagnosis of X-linked genetic disorders, chorionic villus sampling (CVS) for fetal sex determination is generally performed at 11-13 weeks of gestation. However, as the procedure-related miscarriage rate of CVS is 0.5-1.0%, non-invasive methods such as PCR of cell-free fetal DNA (cff-DNA) in maternal plasma are preferable. Here, we determined fetal sex at 9-12 weeks of gestation using PCR of cff-DNA in three pregnant carriers of Duchenne muscular dystrophy. The fetal sex was accurately determined in all three cases, as confirmed by ultrasound and amniocentesis at 16 weeks (for the two female fetuses) and CVS at 12 weeks (for the one male fetus). This procedure could avoid unnecessary CVS in female fetuses.
authors.affiliation: Department of Obstetrics and Gynecology, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan. kiyonori@nagasaki-u.ac.jp
authors.forename: Kiyonori
authors.initials: K
authors.lastname: Miura
authors.forename: Ai
authors.initials: A
authors.lastname: Higashijima
authors.forename: Takako
authors.initials: T
authors.lastname: Shimada
authors.forename: Shoko
authors.initials: S
authors.lastname: Miura
authors.forename: Kentaro
authors.initials: K
authors.lastname: Yamasaki
authors.forename: Shuhei
authors.initials: S
authors.lastname: Abe
authors.forename: Ozora
authors.initials: O
authors.lastname: Jo
authors.forename: Akira
authors.initials: A
authors.lastname: Kinoshita
authors.forename: Atsushi
authors.initials: A
authors.lastname: Yoshida
authors.forename: Shuichiro
authors.initials: S
authors.lastname: Yoshimura
authors.forename: Norio
authors.initials: N
authors.lastname: Niikawa
authors.forename: Koh-ichiro
authors.initials: K
authors.lastname: Yoshiura
authors.forename: Hideaki
authors.initials: H
authors.lastname: Masuzaki
mesh_terms: D000328:Adult; D002474:Cell-Free System; D004247:DNA / Q000235:genetics*; D017931:DNA Primers / Q000235:genetics; D005260:Female; D005333:Fetus; D006801:Humans; D020388:Muscular Dystrophy, Duchenne / Q000175:diagnosis*; D010375:Pedigree; D016133:Polymerase Chain Reaction / Q000379:methods*; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D012732:Sex Determination Analysis / Q000379:methods*
chemical_list: D017931:DNA Primers; D004247:DNA