Genome-wide cell-free DNA screening: a focus on copy-number variants

Rafalko J, Soster E, Caldwell S, et al. Genet Med. 2021;23(10):1847-1853. doi:10.1038/s41436-021-01227-5. Open Access: Learn more

Tags: Laboratory Performance / Laboratory Experience, 2021, United States, CNVs

  • In a cohort of 86,902 Expanded NIPT samples, this publication focuses on the 490 (0.56%) cases that were screen positive for at least 1 subchromosomal partial deletion/duplication. Diagnostic outcomes were available in 50% of these cases, in which the PPV was found to be greater than 70%.