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Effective detection of fetal sex using circulating fetal DNA in first‐trimester maternal plasma
Author(s) -
Lim Ji Hyae,
Park So Yeon,
Kim Shin Young,
Kim Do Jin,
Choi Ji Eun,
Kim Min Hyoung,
Choi Jun Seek,
Kim Moon Young,
Yang Jae Hyug,
Ryu Hyun Mee
Publication year - 2012
Publication title -
the faseb journal
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.709
H-Index - 277
eISSN - 1530-6860
pISSN - 0892-6638
DOI - 10.1096/fj.11-191429
Subject(s) - fetus , glyceraldehyde 3 phosphate dehydrogenase , medicine , biomarker , andrology , pregnancy , real time polymerase chain reaction , gestation , obstetrics , endocrinology , biology , gene expression , gene , genetics
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 methylationspecific polymerase chain reaction of the unmethyla‐ ted‐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.—Lim, J. H., Park, S. Y., Kim, S. Y., Kim, D. J., Choi, J. E., Kim, M. H., Choi, J. S., Kim, M. Y., Yang, J. H., Ryu, H. M. Effective detection of fetal sex using circulating fetal DNA in first‐trimester maternal plasma. FASEB J. 26, 250–258 (2012). www.fasebj.org