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

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 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. ### Competing Interest Statement None : BL, JL, MAI, BD, NS, MH, JY, SJB, HMS, MG, AR, TAS, RMT, PB RK has received honoraria and/or travel funding and/or research support from Illumina, Bionano, Agena, PGDx; RES is a consultant of Bionano. ### Funding Statement This study was funded in part by Bionano Genomics, inc. ### Author Declarations I confirm all relevant ethical guidelines have been followed, and any necessary IRB and/or ethics committee approvals have been obtained. Yes The details of the IRB/oversight body that provided approval or exemption for the research described are given below: IRB 00007527 University of Rochester Medical Center Office for Human Subject Protection IRB AAAT9083 Columbia University Irving Medical Center, New York, NY, USA IRB 2022 0865 Cincinnati Childrens Hospital Institutional Review Board, Cincinnati, OH, USA IRB 20212956 Bionano Genomics Inc., San Diego, CA, USA IRB 22 37290 University of California San Francisco, San Francisco, CA, USA IRB A #00000150 (HAC IRB # 611298) Medical College of Georgia, Augusta University, Augusta, GA, USA I confirm that all necessary patient/participant consent has been obtained and the appropriate institutional forms have been archived, and that any patient/participant/sample identifiers included were not known to anyone (e.g., hospital staff, patients or participants themselves) outside the research group so cannot be used to identify individuals. Yes I understand that all clinical trials and any other prospective interventional studies must be registered with an ICMJE-approved registry, such as ClinicalTrials.gov. I confirm that any such study reported in the manuscript has been registered and the trial registration ID is provided (note: if posting a prospective study registered retrospectively, please provide a statement in the trial ID field explaining why the study was not registered in advance). Yes I have followed all appropriate research reporting guidelines, such as any relevant EQUATOR Network research reporting checklist(s) and other pertinent material, if applicable. Yes Data will be made available upon reasonable request and in accordance with IRB protocols.