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Clinical Validation and Diagnostic Utility of Optical Genome Mapping in Prenatal Diagnostic Testing

8 Feb 2023

Abstract excerpt

The standard-of-care diagnostic prenatal testing includes a combination of cytogenetic methods, such as karyotyping, fluorescence in situ hybridization (FISH), and chromosomal microarray (CMA), using either direct or cultured amniocytes or chorionic villi sampling. However, each technology has its limitations: karyotyping has a low resolution (>5 Mb), FISH is targeted, and CMA does not detect balanced structural...

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PMID: 36758723
DOI: 10.1016/j.jmoldx.2023.01.006

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