APCAD Part 2: A Novel Method for Detection of Meiotic Aneuploidy in Preimplantation Embryos.

ABSTRACT: Background/Objectives: Preimplantation genetic testing methods to detect aneuploidy (PGT-A) based on genomewide single nucleotide polymorphism (SNP) data were scarce and did not meet our needs. Methods: Hence, we developed a novel method for this purpose. After the raw B-allele frequency (rBAF) values of Single Nucleotide Polymorfisms (SNPs) are obtained from a sample of interest with SNP array, the BAF values for specific categories of SNPs (cBAF) are visualized separately. Results: The analysis of the cBAF, rBAF and Log₂R profiles enables to distinguish all common types of chromosomal abnormalities without haplotyping. This was demonstrated by reanalyzing data from 359 embryos which had previously been analyzed with Karyomapping. We identified additional u

SUBMITTER: Verdyck P 

PROVIDER: S-EPMC11854904 | biostudies-literature | 2025 Jan

REPOSITORIES: biostudies-literature