பிரிட்டிஷ் ஜர்னல் ஆஃப் ரிசர்ச் திறந்த அணுகல்

சுருக்கம்

Accurate and reliable fetal gender determination using Primer Design Y-chromosome detection kit

Zara Wasim Haidi

Aim: To validate a protocol for noninvasive fetal sex determinationin maternal plasma and demonstrate its applicability toclinical practice.Method: Peripheral blood from 318 pregnant women was collectedfrom 7 to 12 weeks of gestation. Real-time PCR was performedfor multicopy DYS14 marker sequence located withinthe TSPY gene by the TaqMan probe assay. An exogenousspiked-in amplification/ detection system was also used as apositive control for the extraction process. A diagnostic algorithmwas designed using a combination of these two markers.Fetal gender determined by noninvasive prenatal diagnosis(NIPD) was compared with ultrasound results. The Fisher exacttest (two-sided) was used to determine sensitivity and specificitywith 95% confidence intervals (CIs).Results: A single false-positive result was obtained in all 318pregnancies. The overall sensitivity and specificity were 100%(95% CI 97.7–100%) and 99.3% (95% CI 96.4–99.9%), respectively.Pregnancy outcome was obtained in all cases, including154 male-bearing and 164 female-bearing pregnancies.Conclusions: Primer Design Y-chromosome detection kit forfetal sex determination in plasma of early weeks pregnants ishighly accurate and clinically applicable if robust reporting criteriaare applied.