High-resolution PGT-A results in incidental identification of patients with small pathogenic copy number variants
Deirdre Leahy,
Diego Marin,
Jia Xu
et al.
Abstract:Purpose
This study aimed to evaluate whether a high-throughput high-resolution PGT-A method can detect copy number variants (CNVs) that could have clinical implications for patients and their embryos.
Methods
A prospective analysis of PGT-A cases was conducted using a high-resolution SNP microarray platform with over 820,000 probes. Cases where multiple embryos possessed the same segmental imbalance were identified, and preliminary PGT-A reports were issue… Show more
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