Preimplantation Genetic Testing for Aneuploidy: A Review of the Evidence

Abstract

Preimplantation genetic testing for aneuploidy was developed as an invasive embryo-selection technique and is extensively used in in vitro fertilization (IVF) cycles. Around 95,000 preimplantation genetic testing cycles were carried out in the United States between 2014 and 2016, the majority of which were performed for aneuploidy. The objective of preimplantation genetic testing for aneuploidy is to select for transfer a euploid embryo, after embryo biopsy and cytogenetic analysis. The current technique consists of applying comprehensive chromosome screening on trophectoderm cells after blastocyst-stage embryo biopsy. This article reviews all the published randomized controlled trials on preimplantation genetic testing for aneuploidy with comprehensive chromosome screening and comments on the subject of embryo mosaicism detected by this technique. Most of these trials have been criticized because they only included good prognosis patients having normal ovarian reserve producing a high number of embryos available for biopsy. Preimplantation genetic testing for aneuploidy does not improve ongoing pregnancy rates per cycle started when routinely applied on the general IVF population but seems to be a good tool of embryo selection for a selected category of patients with normal ovarian reserve, yet should be only practiced by experienced IVF clinics. If no euploid embryo is available after preimplantation genetic testing for aneuploidy, a low-level mosaic embryo can be considered and prioritized for transfer after appropriate genetic counseling.