Preimplantation Genetic Testing for Aneuploidy: Current Perspectives

Despite improvements in assisted reproduction techniques (ARTs), live birth rates remain suboptimal, particularly in women with advanced maternal age (AMA). The leading cause of poor reproductive outcomes demonstrated in women with AMA, as well as women with recurrent miscarriage and repetitive implantation failure, is thought to be due to high rates of embryonic aneuploidy. Preimplantation genetic testing for aneuploidies (PGT-A) aims to select an euploid embryo for transfer and therefore improve ART outcomes. Early PGT-A studies using fluorescent in situ hybridization on mainly cleavage-stage biopsies failed to show improved delivery rates and, in certain cases, were even found to be harmful. However, the development of comprehensive chromosome screening, as well as improvements in culture media and vitrification techniques, has resulted in an emerging body of evidence in favor of PGT-A, demonstrating higher implantation, pregnancy, and live birth rates. While there are concerns regarding the potential harm of invasive biopsy and the cost implications of PGT-A, the introduction of noninvasive techniques and the development of new high-throughput methods which lower costs are tackling these issues. This review aims to assess the evidence for PGT-A, address possible concerns regarding PGT-A, and also explore the future direction of this technology.