The efficiency of assisted reproductive technologies programs depending on human acrocentric chromosome polymorphic variants
DOI:
https://doi.org/10.37800/RM.2.2022.22-30Keywords:
infertility, assisted reproductive technologies, cytogenetic analysis, molecular genetic study, karyotyping, chromosomal abnormalities, chromosomal polymorphism, acrocentric chromosomes, satellite regions of chromosomesAbstract
Relevance: A key role in the treatment of female and male infertility of various causes is played by assisted reproductive technologies (ART). Moreover, conducting molecular cytogenetic studies of married couples makes it possible to identify genotype features that positively correlate with impaired reproductive function. For a long time in ongoing studies, due attention was not paid to chromosomal polymorphisms (CP), since they were not considered clinically significant. To date, published scientific data do not allow making a definitive conclusion about the contribution of CP to chromosomal abnormalities during early ontogenesis, which is why this issue remains debatable and relevant.
The study aimed to analyse the effect of chromosomal polymorphisms of acrocentric chromosomes (D/G groups) in male and female karyotypes on the effectiveness of ART cycles.
Methods: A controlled single-centre retrospective study of the effectiveness of ART cycles was conducted among 188 infertile couples with polymorphic variants of acrocentric chromosomes in the karyotype. Groups of patients with CP were compared with the control group (557 pairs without CP in karyotypes) according to such criteria as the normal fertilization rate, the quality of the embryos, the blastulation rate, the implantation rate (IR), the clinical pregnancy rate (CPR), the miscarriage rate (MR).
Results: The analysis of the obtained results did not show a statistically significant difference in the number of retrieved oocytes from oocyte pick-up (OPU), the number of cleaved embryos, and the blastulation rate of excellent quality embryos in the groups of patients with CP. Also, no differences were observed when comparing the normal fertilization rate and the blastulation rate between the groups of patients with CP and patients with normal karyotypes. However, there was a trend toward a decrease in the implantation rate (44.4 vs. 49.4%), clinical pregnancy rate (54.7 vs. 58.9%) and an increase in the miscarriage rate among couples in which at least one of the partners is a carrier of CP.
Conclusion: The results of the study showed that the presence of CPs leads to a decrease in the effectiveness of ART programs, also negatively affects parameters such as IR, CPR, as well as increases early pregnancy losses. The data obtained confirm the importance of karyotyping patients in order to choose the most effective method of ART treatment.
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