24Aug 2023
Non‐invasive prenatal testing (NIPT): Combination of copy number variant and gene analyses using an “in‐house” target enrichment next generation sequencing—Solution for non‐centralized NIPT laboratory?

Non‐invasive prenatal testing (NIPT): Combination of copy number variant and gene analyses using an “in‐house” target enrichment next generation sequencing—Solution for non‐centralized NIPT laboratory?

This study introduced CNV and gene analysis via target enrichment to an independent genetics lab for prenatal testing. Among 100 pregnant women, CNV analysis yielded sensitivities/specificities for specific chromosomes. Maternal genomic DNA gene detection was successful, but differentiating real variants from artifacts in fetal cell-free DNA proved challenging.

  • #gynaecology - ivf

Like

Save

Share