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- W2022888315 abstract "Objective Recently the use of free fetal deoxyribonucleic acid (DNA) in maternal plasma and serum has been applicable for noninvasive prenatal genetic diagnosis. In this study, we applied a new algorithmic base conventional polymerase chain reaction (PCR) genotyping method and also real-time PCR for detecting fetal X and Y-chromosome sequences in maternal plasma to determine fetal sex in pregnant women in their early gestational ages (5-13 weeks). Finally, we compared the efficiency of each method in sex determination. Study Design DNA was extracted from 106 pregnant women and their husbands' blood samples. Fetus mini–short tandem repeat (STR) genotyping was accomplished through amplification of 19 mini-STRs and 3 non-STR markers using conventional PCR followed by polyacrylamide gel electrophoresis analysis. Simultaneously, TaqMan real-time PCR was done with the use of DYS14-specific primers and probe. Results In conventional PCR method, 47 cases were diagnosed to be male and 49 to be female. In comparison, real-time PCR amplified DYS14 (Y-marker) sequences in 45 pregnant women plasma samples. Sensitivity and specificity were calculated to be 95.9% and 98% for conventional PCR and 91.8% and 100% for real-time PCR method, respectively. Conclusion According to our study, the conventional PCR method was more sensitive than real-time PCR and it could be employed in future clinical diagnostics singly or in combination with real-time PCR. Recently the use of free fetal deoxyribonucleic acid (DNA) in maternal plasma and serum has been applicable for noninvasive prenatal genetic diagnosis. In this study, we applied a new algorithmic base conventional polymerase chain reaction (PCR) genotyping method and also real-time PCR for detecting fetal X and Y-chromosome sequences in maternal plasma to determine fetal sex in pregnant women in their early gestational ages (5-13 weeks). Finally, we compared the efficiency of each method in sex determination. DNA was extracted from 106 pregnant women and their husbands' blood samples. Fetus mini–short tandem repeat (STR) genotyping was accomplished through amplification of 19 mini-STRs and 3 non-STR markers using conventional PCR followed by polyacrylamide gel electrophoresis analysis. Simultaneously, TaqMan real-time PCR was done with the use of DYS14-specific primers and probe. In conventional PCR method, 47 cases were diagnosed to be male and 49 to be female. In comparison, real-time PCR amplified DYS14 (Y-marker) sequences in 45 pregnant women plasma samples. Sensitivity and specificity were calculated to be 95.9% and 98% for conventional PCR and 91.8% and 100% for real-time PCR method, respectively. According to our study, the conventional PCR method was more sensitive than real-time PCR and it could be employed in future clinical diagnostics singly or in combination with real-time PCR." @default.
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- W2022888315 date "2012-09-01" @default.
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- W2022888315 title "Sex determination using free fetal DNA at early gestational ages: a comparison between a modified mini-STR genotyping method and real-time PCR" @default.
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- W2022888315 doi "https://doi.org/10.1016/j.ajog.2012.06.026" @default.
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