201. Non-invasive prenatal determination of fetal gender using QF-PCR analysis of cell-free fetal DNA in maternal plasma
- Author
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Kim, Shin Young, Lim, Ji Hyae, Park, So Yeon, Kim, Moon Young, Choi, June Seek, and Ryu, Hyun Mee
- Subjects
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POLYMERASE chain reaction , *MATERNAL-fetal exchange , *FLUORESCENCE , *QUANTITATIVE research , *DNA , *BLOOD plasma , *FEASIBILITY studies , *AMELOGENIN - Abstract
Abstract: Background: Detection of cell-free fetal DNA (cffDNA) in maternal plasma has given rise to the possibility of new non-invasive approaches for early prenatal diagnoses. We evaluated the feasibility and accuracy of non-invasive fetal gender determination using quantitative fluorescent-polymerase chain reaction (QF-PCR) analysis of circulating cffDNA in the first-trimester maternal plasma. Methods: Plasma samples were prospectively collected from 202 singleton pregnancies at 4 to 13weeks of gestation. Fetal gender was determined by QF-PCR with the sex-determining region Y (SRY) and amelogenin X/Y (AMELX/Y) genes. The result was confirmed by fetal karyotyping or phenotype at birth. Results: Of the 202 pregnancies, 162 had pregnancy outcomes available and could be included in our evaluation. The accuracies of AMELX/Y, SRY, and combined AMELX/Y + SRY analysis for fetal gender determination were 83.3%, 82.1%, and 97.5%, respectively, compared with those of the invasive approach and the fetal gender outcome at birth (82 males and 80 females). Combined AMELX/Y + SRY analysis had the highest sensitivity (98.8%) for fetal gender determination with a specificity of 96.3%. Moreover, fetal gender detection by the combined AMELX/Y + SRY analysis at 11 to 13weeks of gestation was 100% correct. Conclusion: Fetal gender determination could be accurately determined from maternal cffDNA in the first-trimester using QF-PCR analysis of combined AMELX/Y + SRY. [Copyright &y& Elsevier]
- Published
- 2012
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