Next-generation sequencing for preimplantation genetic testing of blastocysts aneuploidies in women of different ages Healthy baby born to a robertsonian translocation carrier following next-generation sequencing-based preimplantation genetic diagnosis : a case report

Most of the current preimplantation genetic screening of aneuploidies tests are based on the low quality and low density comparative genomic hybridization arrays. The results are based on fewer than 2,700 probes. Our main outcome was the association of aneuploidy rates and the women’s age. Between August–December 2013, 198 blastocysts from women (mean age 36.3+-4.6) undergoing in vitro fertilization underwent routine trophectoderm biopsy. NGS was performed on Ion Torrent PGM (Life Technologies). The results were analyzed in five age groups (<31, 31–35, 36–38, 39–40 and >40). 85 blastocysts were normal according to NGS results. The results in the investigated groups were (% of normal blastocyst in each group): <31 (41.9%), 31–35 (47.6%), 36–38 (47.8%), 39–40 (37.7%) and >40 (38.5%). Our study suggests that NGS Testing embryos prior to transfer could increase the pregnancy rate, decrease miscarriages and prevent multiple IVF cycles in a patient with a very high incidence of aneuploidy, and consequently a low or zero chance of achieving a pregnancy with her own oocytes [1, 2, 3].The first of these technologies, still in use today, is microscopic morphology analysis. However, there are numerous developmental abnormalities which do not affect embryo morphology [4, 5], and even at the blastocyst stage almost 50% of good morphology embryos can be aneuploid. A step forward was the introduction of the time-lapse system for continuous morphokinetics analysis. Although many results show progress in results obtained, it is accepted not because of the data accuracy but due to the noninvasiveness of the method. For that reason, more reliable, but invasive, diagnostic tests are in use; PGD is applicable for routine preimplantation genetic testing. It allows also for easy customization of the procedre for each individual patient making personalized diagnostics a reality.