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Prenat Diagn. 2008 May;28(5):412-6. doi: 10.1002/pd.1986.

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

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  • 1DNA Laboratory, University of Osijek School of Medicine, J. Huttlera 4, 31000 Osijek, Croatia.



Aiming to develop more reliable methods for determination of fetal gender from maternal plasma we compared three different systems of polymerase chain reaction (PCR) detection of Y-chromosome DNA.


Cell-free DNA was isolated from 96 samples of maternal plasma and (1) 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 (2) 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 (92.5 and 98.1%, 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.

2008 John Wiley & Sons, Ltd

[PubMed - indexed for MEDLINE]
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