Analysis of the embryos genetic characteristics and methodologies of human translocations research

Aim. Assessment of the embryos genetic characteristics from translocation carriers and analysis of the translocation research methodology. Methods. The chromosome structure was analyzed using classical cytogenetics methods, GTG, FISH. Preimplantation genetic testing to identify structural rearrangements of the embryos chromosomes was performed on trophectoderm cells using NGS and FISH methods. Results. The proportion of translocation carriers in the sample of patients with reproductive disorders (n = 6156) was 1.1 %, with 0.4 % – for Robertson translations and 0.8 % for reciprocal ones. 5-day-old embryos with balanced reciprocal translocations are 3-4 times less than with unbalanced ones. Euploid embryos with balanced variants from translocation carriers-mothers and -fathers, amounted to 14.3 % and 12.5 %. Aneuploid embryos with unbalanced translocations accounted for 59.2 % of mothers and 63.2 % of fathers of all received embryos, 80.6 % and 77.8 % of unbalanced ones. Conclusions. Understanding the prevalence of segmental karyotype disorders among the population and modern research methods allows to optimize reproductive care for patients. Keywords: reciprocal translocations, embryos, PGT-SR, NGS, FISH.