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Identification of novel candidate genes associated with meiotic aneuploidy in human embryos by whole-exome sequencing

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

Abstract

Purpose

To identify novel genetic variants responsible for meiotic embryonic aneuploidy.

Methods

A prospective observational cohort study that included 29 couples who underwent trophectoderm biopsies from 127 embryos and performed whole-exome sequencing (WES) between November 2019 and March 2022. Patients were divided into two groups according to the expected embryo aneuploidy rate based on maternal age.

Results

After variant filtering in the WES analysis of 58 patients/donors, five heterozygous variants were identified in female partners from the study group that had an impact on embryo aneuploidy. Additionally, a slowdown in embryo development and a decrease in the number of blastocysts available for biopsy were observed in the study group embryos.

Conclusion

This study has identified new candidate genes and variants not previously associated with meiotic embryo aneuploidy, but which are involved in important biological processes related to cell division and chromosome segregation. WES may be an efficient tool to identify patients with a higher-than-expected risk of embryo aneuploidy based on maternal age and allow for individualized genetic counselling prior to treatment.

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Authors and Affiliations

  1. Instituto Bernabeu Biotech, 03016, Alicante, Spain

    B. Lledo, A. Marco, R. Morales, J.A. Ortiz, E. García-Hernández, F.M. Lozano & A. Cascales

  2. Instituto Bernabeu of Fertility and Gynaecology, 03016, Alicante, Spain

    J. Guerrero, A. Bernabeu & R. Bernabeu

  3. Cátedra de Medicina Comunitaria y Salud Reproductiva, Miguel Hernández University, Alicante, Spain

    A. Bernabeu & R. Bernabeu

Authors
  1. B. Lledo
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  2. A. Marco
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  3. R. Morales
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  4. J.A. Ortiz
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  5. E. García-Hernández
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  6. F.M. Lozano
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  7. A. Cascales
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  8. J. Guerrero
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  9. A. Bernabeu
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  10. R. Bernabeu
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Corresponding author

Correspondence to B. Lledo.

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Ethical approval

This prospective study involving human participants was in accordance with the ethical standards of the institutional and national research committee and with the 1964 Helsinki Declaration and its later amendments or comparable ethical standards. The IRB of Instituto Bernabeu approved this study.

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Lledo, B., Marco, A., Morales, R. et al. Identification of novel candidate genes associated with meiotic aneuploidy in human embryos by whole-exome sequencing. J Assist Reprod Genet 40, 1755–1763 (2023). https://doi.org/10.1007/s10815-023-02825-9

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  • DOI: https://doi.org/10.1007/s10815-023-02825-9

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