Three years of clinical experience with a genome-wide cfDNA screening test for aneuploidies and copy-number variants

[published correction appears in Genet Med. 2021 May 6;:]. Soster E, Boomer T, Hicks S, et al. Genet Med. 2021;23(7):1349-1355. doi:10.1038/s41436-021-01135-8. Open Access: Learn more

Tags: Laboratory Performance / Laboratory Experience, Clinical Experience / Clinical Utility, 2021, United States, RAAs, CNVs

  • This publication is a retrospective analysis of over 55,000 samples submitted for Expanded NIPT to the laboratory, with diagnostic outcomes available in over 40% of screen positive cases. The publication reports on testing indications, demographics, results, and performance. The authors noted that indications shifted during the 3-year period, with a decrease in referrals for ‘ultrasound findings’ (22.0% to 12.0%) and an increase in referrals of ‘no known high-risk indication’ (3.0% to 16.6%). Of the screen positive results, they reported that 25% would have been missed with NIPT limited to the common aneuploidies. They concluded that, although a broader patient population is using Expanded NIPT, the positivity rates and genome-wide events have remained stable at approximately 5% and 25%, respectively.