Genetic variants significantly influence the development of aneuploidy in human gametes and preimplantation embryos, especially in the context of assisted reproductive technologies, such as in vitro fertilization (IVF) and Preimplantation Genetic Testing (PGT). The identification of specific genetic variants associated with various chromosomal abnormalities, such as PLK4, CCDC66, and CEP120, that disrupt accurate chromosomal segregation during cell division processes, is important for understanding the genetic mechanisms leading to an increased risk of aneuploidy and mosaicism in human cells and embryos. These chromosomal abnormalities are the main contributors to implantation failure and miscarriages. The application of different genomic techniques, such as Single Nucleotide Polymorphisms (SNP) microarrays, genome wide association studies (GWAS), and next generation sequencing (NGS), can enhance our knowledge of these mechanisms and prevent the transfer of aneuploid embryos. Such technologies result in improved embryo selection, accurate diagnosis, increased embryo viability, while decreasing miscarriage rates and allowing personalized treatments for overall positive clinical outcomes. However, several challenges, including ethical considerations and methodological limitations, must be addressed before genetic testing can be successfully and ethically applied. Future research involving functional studies, machine learning, and advanced sequencing technologies can contribute to the comprehensive detection and biological effects of these genetic variants. This review investigates specific genetic variants associated with aneuploidy in the context of preimplantation genetic testing and their role as biomarkers for predicting and managing aneuploidy in clinical settings.
Μαρία-Ειρήνη Ε. Ασπουγαλή (Wed,) studied this question.