Document Detail

Effective detection of fetal sex using circulating fetal DNA in first-trimester maternal plasma.
MedLine Citation:
PMID:  21965598     Owner:  NLM     Status:  Publisher    
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.-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.
Ji Hyae Lim; So Yeon Park; Shin Young Kim; Do Jin Kim; Ji Eun Choi; Min Hyoung Kim; Jun Seek Choi; Moon Young Kim; Jae Hyug Yang; Hyun Mee Ryu
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Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2011-9-30
Journal Detail:
Title:  The FASEB journal : official publication of the Federation of American Societies for Experimental Biology     Volume:  -     ISSN:  1530-6860     ISO Abbreviation:  -     Publication Date:  2011 Sep 
Date Detail:
Created Date:  2011-10-3     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  8804484     Medline TA:  FASEB J     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
*Laboratory of Medical Genetics, Medical Research Institute, and.
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