The effectiveness and safety of Embryo Biopsy at the blastocyst stage and Preimplantation Genetic Testing by NGS

This thesis investigates the effectiveness of Preimplantation Genetic Testing (PGT) during the blastocyst stage. An evaluation of the advantages of blastocyst stage PGT is being done, among which are an improved embryo selection procedure after providing more reliable genetic information. A major cause of IVF failure and miscarriage is chromosome aneuploidy, and PGT has evolved into a key diagnostic technique for identifying genetic issues before the transfer of the embryo. While there are many genetic analysis platforms available for PGT, this MSc thesis has an emphasis on the role of Next-Generation Sequencing technology. Among others, Next-Generation Sequencing (NGS) offers higher accuracy and throughput, as well as faster detection of genetic conditions such as aneuploidies and structural chromosomal abnormalities. Furthermore, NGS outperforms traditional methods like array CGH and SNP arrays by detecting mosaicism down to 20%, leading to higher implantation rates and lower miscarriage rates. The findings presented in this narrative review point out the significant clinical benefits of using NGS in PGT, while also referring to its limitations, which include challenges in detecting certain neurological disorders. It is a fact that NGS has improved the precision of genetic screening, however, further technological advancements and research can be done in order to increase its accessibility. This work contributes to the ongoing efforts to optimize embryo selection and improve IVF success rates.