Rapid determination of trisomy 21 from amniotic fluid cells using single-nucleotide polymorphic loci

Bálint Nagy, Zoltán B́an, Levente Lázár, Richárd Gyula Nagy, Csaba Papp, Erno Tóth-Pál, Zoltán Papp

Research output: Article

12 Citations (Scopus)


Objectives: Rapid detection of trisomy 21 is an important goal for prenatal genetic centers. Fluorescent-PCR and DNA fragment analysis was developed a decade ago and thousands of samples were analyzed in routine practice using this method. Quantitative real-time PCR with melting curve analysis using SNP markers for trisomy 21 detection was described recently. We studied the reliability of this method on a cohort of samples of Hungarian patients. Methods: DNA was isolated with silica adsorption method from amniotic fluid cells. We investigated 67 trisomy 21 and 62 diploid samples in the study. Quantitative real-time PCR was performed using hybridization probes combined with melting curve analysis. Peak areas under the derivative curves were determined and analyzed. Results: The SNP marker WIAF 899 was informative in 41.86% of cases and WIAF 2643 in 48.83%. The melting curve area ratios were significantly different between trisomic and normal cases for WIAF 899 (trisomic 0.5246 ± 0.2498 vs 0.8347 ± 0.5234; p < 0.001), while in the case of WIAF 2643, they were not different. Conclusion: Combined and selected SNP markers could be valuable tools for rapid trisomy 21 detection in prenatal genetic screening.

Original languageEnglish
Pages (from-to)1138-1141
Number of pages4
JournalPrenatal Diagnosis
Issue number12
Publication statusPublished - dec. 1 2005


ASJC Scopus subject areas

  • Obstetrics and Gynaecology
  • Genetics(clinical)

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