Ovarian Stimulation and Genetic Outcomes in Assisted Reproductive Technologies

Summary

Advances in assisted reproductive technologies (ART) have underscored the delicate balance between maximising oocyte yield and preserving genetic integrity. Controlled ovarian stimulation (COS) protocols, which employ exogenous gonadotropins under either gonadotrophin-releasing hormone (GnRH) agonist or antagonist regimes, aim to recruit multiple follicles and improve the chances of fertilisation. However, variation in dosage, duration and protocol can influence not only the number of oocytes retrieved but also the rate of euploid embryos—the embryos with the correct chromosome complement. Preimplantation genetic testing for aneuploidy (PGT-A) has become a cornerstone of embryo selection, enabling clinicians to identify chromosomal abnormalities before transfer. Emerging evidence highlights that patient-tailored stimulation strategies, informed by biomarkers such as anti-Müllerian hormone (AMH), can optimise embryo quality without increasing the incidence of de novo chromosomal errors. Parallel studies of the follicular micro-environment, including granulosa-cell transcriptomics and cytokine profiles, reveal how stimulation may perturb pathways critical for oocyte maturation. Together, these insights are driving a shift towards personalised COS regimens that seek to enhance live birth rates while safeguarding genetic outcomes.

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Ovarian Stimulation and Genetic Outcomes in Assisted Reproductive Technologies publication trend

The graph below shows the total number of articles in ovarian stimulation and genetic outcomes in assisted reproductive technologies across all publications each year (not limited to Nature Index journals).

Technical terms

Controlled ovarian stimulation (COS): A clinical regimen using exogenous gonadotropins to induce the development of multiple ovarian follicles in a single cycle.

Preimplantation genetic testing for aneuploidy (PGT-A): Genetic screening of embryos prior to uterine transfer to detect chromosomal imbalances.

Euploid blastocyst: A day-5 embryo with the normal chromosome number, indicating optimal genetic potential for implantation.

Gonadotropin (Gn): A hormone (such as follicle-stimulating hormone or luteinising hormone) administered to stimulate follicle growth.

Anti-Müllerian hormone (AMH): A biomarker of ovarian reserve reflecting the quantity of pre-antral and small antral follicles.

References

  1. Correlation between controlled ovarian stimulation protocols and euploid blastocyst rate in pre-implantation genetic testing for aneuploidy cycles. Reproductive Biology and Endocrinology (2023).
  2. Controlled ovarian hyperstimulation parameters are not associated with de novo chromosomal abnormality rates and clinical pregnancy outcomes in preimplantation genetic testing. Frontiers in Endocrinology (2023).
  3. Effects of total gonadotropin dose on embryo quality and clinical outcomes with AMH stratification in IVF cycles: a retrospective analysis of 12,588 patients. European Journal of Medical Research (2024).
  4. Effect of exogenous gonadotropin on the transcriptome of human granulosa cells and follicular fluid hormone profiles. Reproductive Biology and Endocrinology (2019).
  5. Impact of Exogenous Gonadotropin Stimulation on Circulatory and Follicular Fluid Cytokine Profiles. International Journal of Reproductive Medicine (2014).
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