The application of next generation sequencing platforms for embryonic aneuploidy screening provides enhanced resolution that allows routine evaluation of subchromosomal copy number abnormalities and mosaicism. Approximately 20% of embryos that would be designated as euploid using the conventional 24-chromosome aneuploidy screening will have evidence of a subchromosomal abnormality or mosaicism. This new information brings many challenges. Understanding the impact of these abnormalities on implantation and delivery rates is key to optimizing clinical counseling and management.
Keywords: Chromosomal duplications; chromosomal deletions; embryonic mosaicism; preimplantation genetic screening; subchromosomal defects.
Copyright © 2016. Published by Elsevier Inc.