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Reporting Criteria for Prenatally Identified Variants of Uncertain Significance Differs Among Cytogenetics Laboratories in North America

6 May 2025

Abstract excerpt

OBJECTIVE: Current technical standards for chromosomal microarray (CMA) interpretation are not prescriptive for reporting variants of uncertain significance (VUS) identified prenatally. We sought to compare prenatal CMA reporting among cytogenetic labs and identify potential drivers of practice variation. METHODS: We conducted an electronic cross-sectional survey of cytogeneticists in the United States and Canada...

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PMID: 40326825
DOI: 10.1002/pd.6785

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