Background/Aims: Quantitative fluorescent polymerase chain reaction (QF-PCR) is a successful prenatal diagnostic method which has been regularly used for the diagnosis of common chromosomal abnormalities in recent years. This method provides diagnosis of common aneuploidies in a few hours after sampling with a high throughput, very low error rates and low cost. Methods: In this study, 576 amniotic fluid samples were analyzed for trisomies 13, 18, and 21 and sex chromosome aneuploidies using different commercial QF-PCR kits (ChromoQuant™ version 1, Aneufast™, ChromoQuant™ version 2). Test results were compared with those obtained by conventional cytogenetic analyses. Results: Nine cases of trisomy 21 (1.6%), 1 case of trisomy 13 (0.17%), 3 cases of trisomy 18 (0.52%), 1 case of Turner syndrome (0.17%), 2 cases of Klinefelter’s syndrome (0.34%), 2 cases of triploidy (0.34%) and 1 case of XXX (0.17%) were detected by QF-PCR. The results obtained by QF-PCR were consistent with the results of cytogenetic studies (except for 2 samples which had structural chromosomal abnormalities which could not be detected by QF-PCR). Conclusion: The QF-PCR method is an appropriate choice for rapid aneuploidy testing in our as well as in other populations.

Keywords:
Prenatal diagnosis, Quantitative fluorescent polymerase chain reaction, Amniotic fluid, Aneuploidy
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© 2008 S. Karger AG, Basel
2008
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