Genome-Wide Cell-Free DNA Test for Fetal Chromosomal Abnormalities and Variants: Unrestricted Versus Restricted Reporting.

Kwan AHW, Zhu X, Mar Gil M, et al. Diagnostics (Basel). 2022;12(10):2439. Published 2022 Oct 9. doi:10.3390/diagnostics12102439. Open Access: Learn more

Tags: Clinical Experience / Clinical Utility, 2022, China, RAAs, CNVs

  • “The main finding of this study is that by restricting the reporting of cfDNA results to the three major fetal trisomies, SCAs, and seven microdeletion syndromes and avoiding the reporting of additional findings such as RATs, structural chromosome imbalances, all CNVs or multiple aneuploidies, the false-positive rate can be significantly lowered from 0.93% (95% CI 0.59–1.47) to 0.17% (95% CI 0.06–0.50), but without a reduction in the no-result rate.”