title: Effective detection of fetal sex using circulating fetal DNA in first-trimester maternal plasma.
abstract: The aim of this study was to develop a simple and effective method for noninvasively detecting fetal sex using circulating fetal DNA from first-trimester maternal plasma. A study was conducted with maternal plasma collected from 203 women between 5 and 12 wk of gestation. The presence of circulating fetal DNA was confirmed by a quantitative methylation-specific polymerase chain reaction of the unmethylated-PDE9A gene (U-PDE9A). Multiplex real-time PCR was used to simultaneously quantify the amount of DYS14 and GAPDH in maternal plasma. The results were confirmed by phenotype at birth. Pregnancy outcomes and U-PDE9A concentrations were obtained in all cases, including 99 male-bearing and 104 female-bearing participants. At equivalent specificity (100%), the false-negative rate was 9.1% for DYS14 quantification cycle, 7.1% for DYS14 concentration, and 0.0% for the concentration ratio of DYS14/GAPDH, respectively. In male-bearing participants, DYS14, U-PDE9A, and GAPDH concentrations were significantly lower in the false-negative case than in correct case (P<0.001 in all). Moreover, DYS14, U-PDE9A, and GAPDH concentrations showed significantly positive associations with each other (P≤0.001 in all). The ratio of DYS14/GAPDH in maternal plasma was an effective biomarker for noninvasive fetal sex detection during the first trimester, indicating that it could be useful for clinical application.
authors.affiliation: Kwan Dong University College of Medicine, Seoul, Korea.
authors.forename: Ji Hyae
authors.initials: JH
authors.lastname: Lim
authors.forename: So Yeon
authors.initials: SY
authors.lastname: Park
authors.forename: Shin Young
authors.initials: SY
authors.lastname: Kim
authors.forename: Do Jin
authors.initials: DJ
authors.lastname: Kim
authors.forename: Ji Eun
authors.initials: JE
authors.lastname: Choi
authors.forename: Min Hyoung
authors.initials: MH
authors.lastname: Kim
authors.forename: Jun Seek
authors.initials: JS
authors.lastname: Choi
authors.forename: Moon Young
authors.initials: MY
authors.lastname: Kim
authors.forename: Jae Hyug
authors.initials: JH
authors.lastname: Yang
authors.forename: Hyun Mee
authors.initials: HM
authors.lastname: Ryu
mesh_terms: D015105:3',5'-Cyclic-AMP Phosphodiesterases / Q000235:genetics; D041322:Chromosomes, Human, Y / Q000235:genetics; D004247:DNA / Q000097:blood*; D019175:DNA Methylation / Q000235:genetics; D005260:Female; D005819:Genetic Markers / Q000235:genetics; D006801:Humans; D008297:Male; D008431:Maternal-Fetal Exchange / Q000235:genetics*; D011247:Pregnancy; D011261:Pregnancy Trimester, First; D011296:Prenatal Diagnosis / Q000379:methods*; D060888:Real-Time Polymerase Chain Reaction / Q000379:methods; D012732:Sex Determination Analysis / Q000379:methods*; D013447:Sulfites
chemical_list: D005819:Genetic Markers; D013447:Sulfites; D004247:DNA; D015105:3',5'-Cyclic-AMP Phosphodiesterases; C116137:PDE9A protein, human; C042345:hydrogen sulfite