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.
| Original language | English |
|---|---|
| Journal | Fetal Diagnosis and Therapy |
| Volume | 31 |
| Issue number | 3 |
| Pages (from-to) | 185-90 |
| Number of pages | 6 |
| DOIs | |
| Publication status | Published - Apr 2012 |
Keywords
- Chromosomes, Human, Y
- DNA
- Denmark
- Female
- Fluorescent Dyes
- Genes, sry
- Gestational Age
- Humans
- Male
- Nucleic Acid Probes
- Predictive Value of Tests
- Pregnancy
- Prenatal Diagnosis
- Real-Time Polymerase Chain Reaction
- Sensitivity and Specificity
- Sex Determination Analysis