IMPACT OF PARENTAL GENETIC MUTATIONS ON EMBRYO DEVELOPMENT AND ASSISTED REPRODUCTIVE SUCCESS
DOI:
https://doi.org/10.53555/k20kz039Keywords:
Parental mutations, Embryo development, Assisted reproductive technology (ART), Preimplantation genetic testing (PGT), AneuploidyAbstract
Parental genetic mutations significantly influence embryo viability and the outcomes of assisted reproductive technologies (ART). Inherited and de novo mutations in gametes can disrupt essential biological processes such as meiosis, DNA repair, chromosomal segregation, and early embryonic cell division, leading to aneuploidy, mosaicism, implantation failure, and recurrent miscarriage. Advances in molecular diagnostics, including next-generation sequencing (NGS) and preimplantation genetic testing (PGT), have improved the detection of pathogenic variants in sperm and oocytes. Male factors such as sperm DNA fragmentation and Y-chromosome microdeletions, along with female factors like mitochondrial dysfunction and age-related chromosomal abnormalities, contribute to poor embryo quality. Although ART procedures such as IVF and ICSI improve fertilization rates, they do not eliminate underlying genetic abnormalities. The use of PGT-A and PGT-M enhances embryo selection and increases live birth rates. However, limitations such as mosaicism, high costs, and ethical concerns remain. Understanding parental genetic mutations is crucial for improving reproductive outcomes and optimizing assisted reproduction strategies.
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