Article

Multisite evaluation and validation of Optical Genome Mapping for prenatal genetic testing

2022-12-20

Abstract excerpt

Cytogenetic studies represent a critical component of prenatal genetic testing. Prenatal diagnostic testing of amniotic fluid, chorionic villus sampling, or more rarely, fetal cord blood, is recommended following a positive or unreportable NIPT, maternal serum screen, abnormal ultrasound or increased genetic risk based on family history. While chromosomal microarray is the recommended first-tier prenatal diagnosti...

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Literature Corpus work: 8715f0d2-c770-564e-8e28-da4cf679ddb9
DOI: 10.1101/2022.12.19.22283552

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