Laboratory performance of genome-wide cfDNA for copy number variants as compared to prenatal microarray.

Soster E, Tynan J, Gibbons C, et al. Mol Cytogenet. 2023;16(1):10. Published 2023 Jun 10. doi:10.1186/s13039-023-00642-4 Open Access: Learn more

Tags: Laboratory Performance / Laboratory Experience, 2023, United States, CNVs  

  • Reviewed 701 high-risk pregnancies with both GW-NIPT and prenatal microarray.
  • For aneuploidies, CNVs ≥7Mb, and select microdeletions, sensitivity was 93.8%, specificity was 97.3%, and PPV was 63.8%.
  • “Conclusions: While microarray provides the most robust assessment of fetal CNVs, this study suggests that genome wide cfDNA can reliably screen for large CNVs in a high-risk cohort. Informed consent and adequate pretest counseling are essential to ensuring patients understand the benefits and limitations of all prenatal testing and screening options.”