Aneuploidy Screening using Next Generation Sequencing.

Chromosomal aneuploidy is recognized to be a significant contributing factor in implantation failure and spontaneous miscarriage Hellani et al. (Reprod Biomed Online 17:841-847, 2008), Vanneste et al. (Nat Med 15:577-583, 2009) and is likely to be responsible for the majority of IVF failure [Baltaci et al. (Reprod Biomed Online 12:77-82, 2006), Munne (Placenta 24:S70-76, 2003)]. Preimplantation genetic testing for aneuploidy (PGT-A) screening, formerly termed preimplantation genetic screening (PGS), enables the assessment of the numeric chromosomal constitution in blastomere and/or trophectoderm biopsy before embryo transfer.Preimplantation genetic testing for aneuploidy (PGT-A) has been proven to improve the selection of embryos for transfer and therefore also assisted reproductive technology (ART) cycles. In this chapter we describe the current gold standard platform for PGT-A, next generation sequencing (NGS) protocol used in our laboratory.