Article

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

2022-05-16

Abstract excerpt

The standard-of-care (SOC) 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 (CVS). However, each technology has its limitations: karyotyping has a low resolution (>5Mb), FISH is targeted, and CMA does not detect balanced str...

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Literature Corpus work: 7d6176e7-c2ea-5f00-a91b-fc2e9ff05da3
DOI: 10.1101/2022.05.11.22274975

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