Single-cell-based non-invasive screening for fetal pathogenic microimbalances using maternal blood: comparison with invasive prenatal diagnosis - PubMed
6 hours ago
- #copy-number variants
- #microimbalances
- #non-invasive prenatal testing
- A novel single-cell sequencing-based non-invasive prenatal testing (scsbNIPT) method using circulating extravillous trophoblasts (cEVTs) from maternal blood was evaluated for detecting fetal pathogenic or likely pathogenic copy-number variants (p/lpCNVs), particularly microimbalances under 8 Mb.
- In a prospective multicenter study of 1390 high-risk pregnancies, scsbNIPT demonstrated high sensitivity (92.9%) and specificity (98.2%) for genome-wide microimbalances (300 kb to <8 Mb), with 100% sensitivity for p/lpCNVs detected at 11 to 14+6 weeks of gestation.
- For trisomy 21, scsbNIPT showed sensitivity of 98.0% and specificity of 99.7%, indicating strong performance for common aneuploidies as well.
- The method offers improved early pregnancy screening compared to current cell-free DNA-based tests, significantly reducing residual risk by detecting microimbalances that are often missed by standard non-invasive prenatal screening.