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The effect of carrier characteristics and female age on preimplantation genetic testing results of blastocysts from Robertsonian translocation carriers

  • Genetics
  • Published:
Journal of Assisted Reproduction and Genetics Aims and scope Submit manuscript

Abstract

Purpose

To analyze factors affecting segregation and ploidy results from Robertsonian carriers, and determine chromosomes involved impact chromosome stability during meiosis and mitosis.

Methods

This retrospective study include 928 oocyte retrieval cycles from 763 couples with Robertsonian translocations undergoing preimplantation genetic testing for structural rearrangements (PGT-SR) using next-generation sequencing (NGS) between December 2012 and June 2020.The segregation patterns of the trivalent of 3423 blastocysts were analyzed according to the carrier’s sex and age. A total of 1492 couples who received preimplantation genetic testing for aneuploidy (PGT-A) were included as the control group and matched according to maternal age and testing time stage.

Results

A total of 1728 (50.5%) normal/balanced embryos were identified from 3423 embryos diagnosed. The rate of alternate segregation in male Robertsonian translocation carriers was significantly higher than that in female carriers (82.3% vs. 60.0%, P < 0.001). However, the segregation ratio exhibited no difference between young and older carriers. Further, increasing maternal age decreased the proportion of transferable embryo cycle in both female and male carriers. And the ratio of chromosome mosaic from the Robertsonian translocation carrier group was significantly higher than that in the PGT-A control group (1.2% vs. 0.5%, P < 0.01).

Conclusions

The meiotic segregation modes were affected by the carrier sex and were independent of the carrier’s age. Advanced maternal age decreased the probability of obtaining a normal/balanced embryo. In additional, the Robertsonian translocation chromosome could increase the possibility of chromosome mosaicism during mitosis in blastocysts.

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Acknowledgements

We are grateful to the staff of the PGT and IVF group in CITIC XIANGYA for their technical assistance.

Funding

This study was supported by grants from the National Natural Science Foundation of China (grant 81873478, to L.H.) and Natural Science Foundation of Hunan Province (grant 2022JJ30414 and 2019 JJ 50397).

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Author notes

  1. Tongyuan Dang and Pingyuan Xie contributed equally in this paper.

Authors and Affiliations

  1. Hospital of Hunan Guangxiu, Hunan Normal University School of Medicine, Changsha, Hunan, China

    Tongyuan Dang, Pingyuan Xie & Zhiqi Zhang

  2. Clinical Research Center for Reproduction and Genetics in Hunan Province, Changsha, China

    Pingyuan Xie, Liang Hu, Yi Tang, Yueqiu Tan, Keli Luo, Fei Gong, Guangxiu Lu & Ge Lin

  3. National Engineering and Research Center of Human Stem Cells, Changsha, China

    Pingyuan Xie, Liang Hu, Yi Tang, Yueqiu Tan, Keli Luo, Fei Gong, Guangxiu Lu & Ge Lin

  4. NHC Key Laboratory of Human Stem and Reproductive Engineering, School of Basic Medical Science, Central South University, Changsha, China

    Liang Hu, Yi Tang, Yueqiu Tan, Keli Luo, Fei Gong, Guangxiu Lu & Ge Lin

  5. Reproductive and Genetic Hospital of CITIC-Xiangya, Changsha, Hunan, China

    Liang Hu, Yi Tang, Yueqiu Tan, Keli Luo, Fei Gong, Guangxiu Lu & Ge Lin

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  1. Tongyuan Dang
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Contributions

GL, GL, and PX designed the experiments and drafted the manuscript; GF, KL, YQT, LH, and YT contributed to the clinical samples; PX, TD, and ZZ, performed the experiments and analyzed the data; PX, TD, and ZZ, reviewed the manuscript. All authors read and approved the final manuscript.

Corresponding author

Correspondence to Ge Lin.

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Dang, T., Xie, P., Zhang, Z. et al. The effect of carrier characteristics and female age on preimplantation genetic testing results of blastocysts from Robertsonian translocation carriers. J Assist Reprod Genet 40, 1995–2002 (2023). https://doi.org/10.1007/s10815-023-02853-5

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  • DOI: https://doi.org/10.1007/s10815-023-02853-5

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