engleski

Analysis of multiple loci can increase reliability of detection of fetal Y chromosome DNA in maternal plasma

Aiming to develop more reliable methods for determination of fetal gender from maternal plasma we compared three different systems of PCR detection of Y-chromosome DNA. Cell free DNA was isolated from 96 samples of maternal plasma and a) amplified using AmpFLSTR-Identifiler (15 autosomal STR loci and amelogenin) or AmpFLSTR-Yfiler (16 Y-chromosome STR loci) kits and subsequently analyzed on ABI-PRISM 310 Genetic-Analyzer, or b) analyzed using Quantifiler-Y DNA-Quantification kit. Gender of fetuses was confirmed by cytogenetic analysis or phenotypically at birth. AmpFLSTR-Identifiler and Quantifiler-Y Human Quantification kits were rather reliable in determining fetal gender (95.6% and 98.9%, respectively), but false negatives were still present in both systems. AmpFLSTR Yfiler was found to be fully reliable as it amplified Y-chromosome in all cases of male fetuses, and was thus 100% correct in determining fetal gender. In addition it enabled comparison of polymorphic Y-chromosome loci between father and a child, thus further supporting specificity of obtained results.

prenatal gender determination; cell-free fetal DNA; Y chromosome DNA; polymorphic STR loci

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