Reclaiming 'abnormal' embryos after preimplantation genetic testing for aneuploidy: patients' perspectives on transferring embryos against prior institutional advice.

Abstract

Study question: How do patients make sense of and justify the transfer of embryos labelled 'abnormal' by preimplantation genetic testing for aneuploidy (PGT-A)?

Summary answer: Patients described a process of unlearning the authority of genetic testing and reframing their decisions as morally reasoned acts of reproductive agency-a reclaiming of possibility amid biomedical exclusion.

What is known already: PGT-A is widely used in IVF, although its clinical utility and interpretation remain debated, and its claimed benefit on cumulative live birth rates unproven. Many clinics refuse transfer of embryos labelled 'abnormal', despite reports of healthy live births following transfer of selected embryos labelled 'mosaic' or 'aneuploid'.

Study design size duration: Qualitative retrospective study of 21 participants (15 women and 6 men) conducted between 2019 and 2025 at a private fertility clinic associated with a research university in New York City, NY, USA.

Participants/materials setting methods: Participants had previously been denied transfer of embryos labelled 'abnormal' by PGT-A at multiple clinics and sought care at the study site. Semi-structured interviews were conducted, audio-recorded, transcribed verbatim, and analysed using inductive, reflexive thematic analyses.

Main results and the role of chance: Among 21 participants, transfer outcomes included 6 healthy births following transfers of embryos labelled 'abnormal', 1 ongoing, 4 first-trimester miscarriages, 1 chemical pregnancy, and 12 failed implantations. One overarching theme 'reclaiming possibility', spanning four interrelated phases, was identified: (i) reassessing scientific authority of PGT-A; (ii) navigating institutional and relational constraints; (iii) embracing moral responsibility to give, or withhold, embryos a chance; and (iv) retrospective/anticipatory validation through a no-regrets stance. Participants resisted exclusionary classifications, pursued transfer despite refusals, and made sense of known, unknown, or adverse outcomes without equating results with the test's predictive accuracy.

Limitations reasons for caution: Participants were self-selected from a single clinic that was willing to consider such embryo transfers; therefore, the findings may have limited transferability to other settings or to patients who accepted an original institutional transfer refusal.

Wider implications of the findings: Patients' narratives challenge assumptions that PGT-A results are determinative of embryo viability and highlight the ethical complexity of categorical transfer refusals by clinics. These findings support the need for transparent pre-test counselling, explicit institutional policies on embryo transfer, and patient-led pathways under robust informed consent. Integrating uncertainty-aware counselling and clear prenatal diagnostic planning may better align care with patients' values and lived realities.

Study funding/competing interests: This work was supported by the Wellcome Trust [grant number: 226801] for Discovery Research Platform for Transformative Inclusivity in Ethics and Humanities Research (ANTITHESES). D.H.B. and N.G. are co-owners of several already awarded and still pending US patents, some claiming benefits from androgens, including DHEA, supplementation in women with low functional ovarian reserve, other infertility conditions, and perimenopausal hypo-androgenism-induced sexual dysfunction. Other patents relate to diagnostic and potential therapeutic benefits of AMH. N.G. is also a shareholder in Fertility Nutraceuticals LLC and N.G. receives patent royalties from Fertility Nutraceuticals, LLC. All other authors report no potential competing interests.

Trial registration number: N/A.