Progress Update for the Multisite Optical Genome Mapping Evaluation and Validation Study: Prenatal Applications

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 OGMs viability as an alternative to conventional SOC testing, a comprehensive clinical research study was conducted across multiple sites, operators, and instruments to evaluate its accuracy and clinical utility. This report provides an update for the phase 2 results of the ongoing multisite evaluation and validation study evaluating OGM for prenatal applications. In phase 1, 123 prenatal cases were assessed by OGM, and in phase 2, 219 retrospective and prospective prenatal cases have been evaluated. For 71% of cases, at least two SOC tests were performed. The study found that OGM had an overall accuracy of 99.6% and positive predictive value of 100% when compared to all cytogenetic SOC results. With its standardized workflow, cost-effectiveness, and high-resolution cytogenomic analysis, OGM shows great promise as an alternative technology that uses a single assay to consolidate the multiple SOC tests usually used for prenatal cytogenetic diagnosis.