Expanding the Scope of Non-invasive Prenatal Testing to Detect Fetal Chromosomal Copy Number Variations.

Chen S, Zhang L, Gao J, et al. Front Mol Biosci. 2021;8:649169. Published 2021 May 12. doi:10.3389/fmolb.2021.649169. Open Access: Learn more

Tags: Laboratory Performance / Laboratory Experience, 2021, China, CNVs

  • Analyzed the NIPT screen positive rate at different read depths and identified a strategy for fetal CNV detection.
  • “Increasing read depth in NGS [next-generation sequencing] improves the positive CNV detection rate while lowering the false positive detection rate. NIPT by NGS may be an accurate method of fetal chromosome analysis and reduce the rate of birth defects.”