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Evaluation of pre-implantation genetic testing for aneuploidy outcomes in patients without infertility undergoing in vitro fertilization compared to infertile controls

  • Assisted Reproduction Technologies
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Abstract

Purpose

To evaluate pre-implantation genetic testing for aneuploidy (PGT-A) outcomes in patients without infertility compared to infertile patients.

Methods

We performed a retrospective cohort study of all patients without an infertility diagnosis (“fertile” patients) who utilized PGT-A at a large university-affiliated fertility center between 2016 and 2021. Fertile patients were 1-to-3 matched to infertile controls by age and number of oocytes retrieved. The primary outcome was blastocyst aneuploidy rate. Secondary outcomes included ovarian reserve markers, laboratory outcomes, and other PGT-A outcomes [rates of euploidy, mosaicism, and potentially transferrable (euploid + mosaic) embryos].

Results

283 fertile and 849 infertile patients were included. Median age, anti-Mullerian hormone, and day 2 estradiol levels were equivalent among groups; day 2 follicle-stimulating hormone levels were higher in fertile patients (6.9 vs. 6.5 IU/mL, p < 0.01). The aneuploidy rate was similar among fertile and infertile patients (33.7% vs. 31.8%, p = 0.11); the euploidy rate was higher (50.8% vs. 47.0%, p < 0.01), and the mosaicism rate was lower in fertile patients (13.3% vs. 19.2%, p < 0.01). The rate of transferrable embryos was similar among groups (64.0% vs. 66.3%, p = 0.07), as was the percentage of patients yielding ≥ 1 euploid embryo (90.1% vs. 87.3%, p = 0.25). When controlling for significant covariates, multiple linear regression showed that aneuploidy rate was equivalent in both cohorts.

Conclusion

Aneuploidy rate was similar in fertile and infertile patients. Fertile patients had slightly higher euploidy and lower mosaicism than infertile patients. Still, compared to fertile patients, infertile patients had equivalent rates of transferrable embryos and were just as likely to yield ≥ 1 euploid embryo.

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Data Availability

The data that support the findings of this study are available from the corresponding author, EAC, upon reasonable request.

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Acknowledgements

The authors thankfully acknowledge the patients included in this study.

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Authors and Affiliations

Authors

Contributions

All authors contributed to the study’s conception and design. Material preparation, data collection, and analysis were performed by Emily A. Clarke and Asha K. Dahiya. The first draft of the manuscript was written by Emily A. Clarke, and all authors commented on previous versions of the manuscript. All authors read and approved the final manuscript.

Corresponding author

Correspondence to Emily A. Clarke.

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Ethical approval and informed consent

This research study was conducted retrospectively from data obtained for clinical purposes. The study was performed with New York University Institutional Review Board approval (s13-00389).

Competing interests

The authors declare no competing interests.

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Clarke, E.A., Dahiya, A.K., Cascante, S.D. et al. Evaluation of pre-implantation genetic testing for aneuploidy outcomes in patients without infertility undergoing in vitro fertilization compared to infertile controls. J Assist Reprod Genet 40, 2697–2704 (2023). https://doi.org/10.1007/s10815-023-02941-6

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  • DOI: https://doi.org/10.1007/s10815-023-02941-6

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