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Clinical outcomes of subtypes of mosaic single aneuploid embryos after preimplantation genetic testing for aneuploidy

  • Assisted Reproduction Technologies
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Abstract

Objective

Mosaic embryos are often characterized by different numbers (single or double or ≥ 3 aneuploidies) or types of chromosomal abnormalities (monosomy or trisomy and involving whole chromosome or chromosome segments). However, due to limitations in the number of samples, the relationship between these abnormalities and clinical outcomes is often not evaluated.

Methods

This study analyzed chromosomal abnormalities and clinical outcomes in 591 aneuploid mosaic and 3071 euploid embryos from multiple retrospective cohorts as well as from the current authors’ unpublished retrospective cohort.

Results

Through meta-analysis, it was found that single aneuploid mosaicism reduced implantation and clinical pregnancy rates. In addition, no significant differences were noted between mosaic trisomies and mosaic monosomies in terms of their effects on implantation and clinical pregnancy rates. All subtypes of single aneuploid mosaicism were found to reduce implantation and clinical pregnancy rates for women of over 35 years old. Furthermore, it was observed that all subtypes of single aneuploid in higher-level mosaicism reduced implantation and clinical pregnancy rates. Regarding the lower-level group, only segmental mosaicism with segmental chromosome gain reduced both of the above rates. Unexpectedly, the type of chromosome abnormality was more likely to influence miscarriage rates compared with the level of mosaicism. Indeed, monosomy aneuploid mosaic embryos increased miscarriage rates in both lower- and higher-levels mosaic ratio groups, but not other subtypes.

Conclusions

Although the mechanism for the above phenomenon remains unknown, it is recommended that attention should still be paid to the increased miscarriage rates caused by monosomy in aneuploid mosaic embryos.

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Data availability

All data are incorporated into the article and its online supplementary material.

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Funding

This work was performed with support of the National Key Research and Development Program of China (2022YFC2702702) and the National Natural Science Foundation of China (81871210).

Author information

Author notes

  1. Ying Wang, Zerui Wang and Xun Wu contributed equally to this work.

Authors and Affiliations

  1. State Key Laboratory of Reproductive Medicine, Department of Reproduction, Nanjing Maternity and Child Health Care Hospital, Women’s Hospital of Nanjing Medical University, Nanjing, 210004, China

    Ying Wang, Xun Wu, Xiufeng Ling & Junqiang Zhang

  2. State Key Laboratory of Reproductive Medicine, Department of Histology and Embryology, Nanjing Medical University, Nanjing, 211166, China

    Zerui Wang

  3. State Key Laboratory of Reproductive Medicine, The Affiliated Taizhou People’s Hospital of Nanjing Medical University, Taizhou School of Clinical Medicine, Nanjing Medical University, Nanjing, China

    Mingxi Liu

Authors
  1. Ying Wang
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  2. Zerui Wang
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  3. Xun Wu
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  4. Xiufeng Ling
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Corresponding authors

Correspondence to Junqiang Zhang or Mingxi Liu.

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The authors declare no competing interests.

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Supplementary information

Below is the link to the electronic supplementary material.

10815_2023_2728_MOESM1_ESM.pdf

Forest plot that describes the link between single, double and complex aneuploid mosaicism and implantation rates. (PDF 2.15 MB)

10815_2023_2728_MOESM2_ESM.pdf

Forest plot which describes the link between single, double and complex aneuploid mosaicism and clinical pregnancy rates. (PDF 2.11 MB)

10815_2023_2728_MOESM3_ESM.pdf

Forest plot which describes how miscarriage rates were linked to single, double and complex aneuploid mosaicism. (PDF 2.07 MB)

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Wang, Y., Wang, Z., Wu, X. et al. Clinical outcomes of subtypes of mosaic single aneuploid embryos after preimplantation genetic testing for aneuploidy. J Assist Reprod Genet 40, 639–652 (2023). https://doi.org/10.1007/s10815-023-02728-9

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  • DOI: https://doi.org/10.1007/s10815-023-02728-9

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