Development of a novel MSRE-dPCR assay for non-invasive prenatal testing of trisomy 21
Abstract
dPCR. After testing 24 simulated samples, the corresponding calculation formulas were established for MSRE-dPCR (a 4-marker panel), and the distinguishing accuracy was 100%, which was much better than that of MSRE-dPCR (87.5%). Finally, the detection limit of MSRE-dPCR was found to be 2.44-4.76%. In a preliminary validation using clinical cffDNA samples, the established method correctly classified 18 out of 19 cases (94.73% accuracy), distinguishing T21 from healthy pregnancies. This MSRE-dPCR strategy provides a rapid, cost-effective alternative with promising accuracy for T21 detection, serving as a potential supplementary tool in prenatal screening. Further validation with larger cohorts is warranted to confirm its clinical utility.
Fields of Study & Subjects
Prenatal Screening and Diagnostics
Genomic variations and chromosomal abnormalities
Genomics and Rare Diseases
Publication details
- Journal / source
- Analytical Methods
- Publisher
- Royal Society of Chemistry (RSC)
- Volume
- 18
- Issue
- 5
- Pages
- 1116–1125
- Publication date
- 1 January 2026
- Language
- EN