Retrospective Analysis of Meiotic Segregation Pattern and Reproductive Outcomes in Blastocysts from Robertsonian Preimplantation Genetic Testing Cycles

Abstract

In this retrospective study, 120 heterozygous Robertsonian translocation carriers undergoing preimplantation genetic testing (PGT) were included, between January 2018 and September 2021. Meiotic segregation patterns of 462 embryos from 51 female carriers and 69 male carriers were analyzed according to chromosome type, carrier's sex, and female age. The proportion of alternate embryos in female carriers was slightly lower than that in male carriers [P < 0.001, odds ratio (OR) = 0.512]. By contrast, no difference was observed among Rob (13;14), Rob (14;21), and rare RobT groups. Stratification analysis of female carriers' age doses showed no significant increase in unbalanced chromosomal abnormalities. Reproductive outcomes of 144 frozen-thawed cycles were analyzed. All 144 blastocysts were transferred, and there were no significant differences in the clinical pregnancy rates per transfer (CPR), miscarriage rates (MR), live birth rates per transfer (LBR), and cumulative live birth rates between female carriers and male carriers. In addition, couples in Rob (13;14), Rob (14;21), and rare RobTs groups had comparative clinical pregnancy rates per transfer (CPR), miscarriage rates (MR), live birth rates per transfer (LBR), and cumulative live birth rates. Our study demonstrated that the meiotic segregation pattern of Robertsonian translocations carriers is associated with the carrier's sex, but not the carrier's translocation type and female age. In addition, the sex of translocation carriers only affects the meiotic segregation pattern but does not influence the subsequent viability of normal embryos and live birth.

Keywords: Cumulative live birth rates; Heterozygous Robertsonian translocation carriers; Meiotic segregation patterns.