High-resolution PGT-A results in incidental identification of patients with small pathogenic copy number variants.

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 issued recommending either parental microarray or conventional karyotyping to identify CNVs or translocations.

Results

Analysis of 6080 sequential PGT-A cases led to identification of 41 cases in which incidental findings were observed (0.7%) and parental testing was recommended. All cases, in which parental studies were

SUBMITTER: Leahy D 

PROVIDER: S-EPMC10789684 | biostudies-literature | 2024 Jan

REPOSITORIES: biostudies-literature