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

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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.

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Data Availability

Data available on request from the authors.

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Correspondence to Juanzi Shi or Xia Xue.

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Ethics Approval

This study was approved by the ethics committee of the Northwest Women’s and Children’s Hospital (number 2022007).

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All patients provided informed consent to participate in the study before their PGT samples were collected.

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All authors consent to the publication of the paper “Retrospective analysis of meiotic segregation pattern and reproductive outcomes in blastocysts from robertsonian preimplantation genetic testing cycles.” We declare that the submitted manuscript does not contain previously published material and are not under consideration for publication elsewhere. Each author has made an important scientific contribution to the study and is thoroughly familiar with the primary data. All authors listed have read the complete manuscript and have approved the submission of the paper. The manuscript is truthful original work without fabrication, fraud, or plagiarism.

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Jia, M., Shi, J. & Xue, X. Retrospective Analysis of Meiotic Segregation Pattern and Reproductive Outcomes in Blastocysts from Robertsonian Preimplantation Genetic Testing Cycles. Reprod. Sci. 30, 2983–2989 (2023). https://doi.org/10.1007/s43032-023-01244-6

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