43. NGS BASED PGT-A / PGT-SR: DATA FROM >7000 EMBRYOS

Abstract

Introduction Preimplantation Genetic Testing for Aneuploidy (PGT-A) has been an important and promising option for the couples experiencing repeated IVF failures in the recent years. Next Generation Sequencing (NGS) has become a popular technology in the last years for The utilization of PGT-A. In this way, pregnancy rates increased by the selection and transfer of euploid embryos with a higher chance to implant and maintain a healthy pregnancy. Additionally, use of NGS technology is advantageous in the selection of embryos that do not carry any chromosomal abnormalities due to inherited structural rearrangements with high resolution, which is extremely important especially for translocation carrier patients known as Preimplantation Genetic Testing for Chromosome Structural Rearrangements (PGT-SR). In this study, we report NGS based PGT results of 7436 embryos from 2324 patients including translocation carriers. Materials and Methods SurePlex DNA Amplification System (Illumina, USA) and DOPlify (PerkinElmer Health Sciences, Australia) were used for Whole Genome Amplification (WGA) on biopsied cells. WGA samples were further processed using Veriseq PGS (Illumina, USA) and PG-Seq kits (PerkinElmer Health Sciences, Australia). Data obtained from Miseq System were analysed using BlueFuse Multi Software (Illumina, USA) and Nexus Software (BioDiscovery, USA). Results 7436 embryos collected from 2324 patients were processed in this study. Results of 7213 embryos were interpreted after the elimitation of amplification failure group. Among these embryos, 705 were obtained from translocation carrier patients. Our results show that 36.7% of embryos was euploid and this ratio was 25.6% for translocation carrier patients. For PGT-A and PGT-SR patients, aneuploidy rates were 16.3% and 18.2%, respectively. We observed higher complex aneuploidy in translocation patients (51.6%) compared to the rest of the samples (29.5%). In addition to these findings, we also obtained pregnancy rate data from 1245 embryos of 470 patients. Pregnancy rate per embryo transfer was 62% in the group of patients in the range of 35-39 years, which was 53% in the group of patients over 40 years of age. Conclusions Our data suggest that this technology is valuable for the selection of euploid embryos and improvement of IVF success together with pregnancy rates. Additional information obtained from NGS application prevents the transfer of aneuploid embryos, which is extremely important especially for translocation carrier patients. Moreover, this technology yielded promising results in the group of patients with advanced maternal age. At the point we have arrived through this aneuploidy testing adventure in embryos started in 1993 with FISH that detects only a limited number of chromosomes, detailed information accumulation obtained from 24 chromosome screening will increase the acceptability of this technique in IVF applications every passing day.