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Prospective Investigation of Optical Genome Mapping for Prenatal Genetic Diagnosis

22 Mar 2024

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BACKGROUND: Optical genome mapping (OGM) is a novel assay for detecting structural variants (SVs) and has been retrospectively evaluated for its performance. However, its prospective evaluation in prenatal diagnosis remains unreported. This study aimed to prospectively assess the technical concordance of OGM with standard of care (SOC) testing in prenatal diagnosis. METHODS: A prospective cohort of 204 pregnant...

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PMID: 38517460
DOI: 10.1093/clinchem/hvae031

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