Increased Y-chromosome detection by SRY duplexing

Fetal Diagn Ther. 2012;31(3):185-90. doi: 10.1159/000335350. Epub 2012 Mar 13.

Abstract

Objective: Determining fetal sex noninvasively is dependent of a robust assay. We designed a novel SRY assay and combined it with a SRY assay from literature forming a duplex assay with the same fluorescent dye to increase detection of Y-chromosome at low cell-free fetal DNA or chimeric DNA concentrations.

Methods: We analyzed 48 plasma samples from pregnant women in gestational weeks 5-35. Fetal sex was determined by DYS14 and SRY. We also compared 2 monoplex SRY assays with a SRY duplex assay at low DNA concentrations.

Results: The DYS14 assay was more sensitive than the SRY assay, but less specific at low cell-free fetal DNA concentrations. We obtained a more sensitive duplex SRY assay with the same specificity as the 2 monoplex assays.

Conclusion: The SRY duplex assay improves the SRY detection at low DNA concentration.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Chromosomes, Human, Y*
  • DNA / blood*
  • Denmark
  • Female
  • Fluorescent Dyes
  • Genes, sry*
  • Gestational Age
  • Humans
  • Male
  • Nucleic Acid Probes
  • Predictive Value of Tests
  • Pregnancy
  • Prenatal Diagnosis / methods*
  • Real-Time Polymerase Chain Reaction*
  • Sensitivity and Specificity
  • Sex Determination Analysis / methods*

Substances

  • Fluorescent Dyes
  • Nucleic Acid Probes
  • DNA