Evaluation of KaryoLite™ BACs on Beads™ assay for preimplantation genetic testing for aneuploidy in blastocyst

Abstract

Preimplantation genetic testing for aneuploidy (PGT-A) is used to screen chromosomal abnormalities in embryos. Currently, a new molecular karyotyping platform, KaryoLite™ BACs on Beads™ (KL-BoBs) assay was developed to detect aneusomy for any chromosome. Here, we present an evaluation of KL-BoBs for a routine diagnostic test in a clinical setting for PGS by comparison with aCGH result. A total of 39 samples from 14 frozen blastocysts were obtained from 3 patients. The frozen blastocysts were studied in the first biopsy, and aCGH was tested parallelly to detect chromosomal abnormalities in biopsied TE. Consistency of the results obtained from biopsied inner cell mass (ICM) and trophectoderm (TE) was 98.2%. The biopsied TE in human blastocysts can predict the chromosome information in ICM. We found that 36.36 % of TE from the same abnormal blastocysts had mosaicism. According to the limitation of KL-BoBs, polyploidy and structural abnormalities were unable to be detected. The results from KL-BoBs had concordance with aCGH technique to detect chromosomal abnormalities for PGT-A. Consistency of biopsied ICM and TE was 98.2 %, which indicated that biopsied TE in human blastocysts could predict chromosome information in ICM.