bioRxiv (Cold Spring Harbor Laboratory)
Progress Update for the Multisite Optical Genome Mapping Evaluation and Validation Study: Prenatal Applications
December 2023 • Brynn Levy, Jie Liu, M. Anwar Iqbal, Barbara R. DuPont, Nikhil Sahajpal, Monique Ho, Jingwei Yu, Sam J. Brody, Heather Mason‐Suares, Mythily Ganapath…
Abstract Optical genome mapping (OGM) is an emerging technology with great potential for prenatal diagnosis. OGM can identify and resolve all types of balanced and unbalanced cytogenomic abnormalities in a single test, which are typically assessed by multiple standard of care (SOC) methods including karyotyping, fluorescence in situ hybridization and chromosomal microarray. To assess OGM’s viability as an alternative to conventional SOC testing, a comprehensive clinical research study was conducted across multiple…