The challenge of polyploidy and comprehensive chromosome screening: validation of a targeted next generation sequencing (TNGS) platform for detection of triploidy in human blastocysts

Abstract

Current NGS-based CCS platforms perform an initial whole genome amplification step, which prevents simultaneous genotyping due to shallow sequencing depth. Therefore, triploidy detection by NGS remains challenging and has only been reported based on sex chromosome copy number ratios, which fail to account for XXX triploids, and may be prone to misdiagnosis due to sample contamination or technological artefacts. Using genotyping data generated in parallel with copy number analysis from a tNGS-based CCS platform, this study aims to validate triploidy detection in human blastocysts as well as its frequency and parental origin.