How much reproductive autonomy do you have?
When it comes to transferring an embryo, clinics have transfer protocols that may not always align to a patient's choice.
When I first started working with a preimplantation genetic testing lab, I was under the impression that transferring an embryo with an abnormal result would be an exceedingly rare occurrence. The rationale behind testing, in my mind, was to identify embryos carrying an elevated risk of adverse outcomes, such as miscarriage or disease.
However, delving into the intricacies of the testing process and facing the realities of patient situations, I came to acknowledge that there may be a place for transferring embryos with abnormal results.
Two primary embryo tests are available: preimplantation genetic testing for aneuploidy (PGT-A) and preimplantation genetic testing for monogenic conditions (PGT-M). Neither test has a 100% accuracy rate, meaning there is the potential for false positive and false negative results. A reported abnormality might not actually be present, as the test itself can be incorrect.
Moreover, these tests assess a specific part of the embryo, destined to become the future placenta and supporting structure of the pregnancy, not the portion that will develop into the future baby. While typically the genetics of the entire embryo are uniform, there are exceptions, leading to potential inaccuracies in the testing process.
Given these factors, some individuals may opt to transfer an embryo with an abnormal result. The probability of the abnormality being accurate is high, but the margin for error remains. For some, the fear is not experiencing an adverse outcome, but rather not giving the embryo a chance.
PGT-M, unique in its ability to assess various conditions with different symptoms, adds another layer of complexity. Some might prefer avoiding embryos with certain conditions, yet if no other embryos are available, they may choose to proceed, accepting the increased risk. For instance, someone may opt to transfer an embryo that is expected to have a BRCA1 variant, despite the associated cancer risks, as the desire for a child surpasses the ideal genetic scenario.
In rare instances, PGT-M is used to identify embryos with the condition, as discussed in certain disabilities communities. Here, the goal is to have children who share the community's characteristics and norms, even if accommodations are needed.
While there are statistical, therapeutic, and personal reasons for transferring such embryos, clinics often have protocols determining eligible embryos for transfer, which may not align with the patient's preferences.
Patients may feel their reproductive autonomy is compromised when they are informed which embryos are transferable. From the provider's standpoint, “physician autonomy, professional conscience, nonmaleficence, procreative beneficence, and child welfare are potentially invoked in decision making in this area” (1).
It can be argued that patients are the ones requesting and paying for the testing, and the decisions based on the information should be theirs to make. Placing limitations not only restricts reproductive liberty but also reintroduces paternalism—a paradigm we have moved away from.
Anecdotal information suggests that some clinics are open to patients freely exercising their autonomy, while others prioritize the provider's right to autonomy. While patients are the focal point of healthcare, it is crucial to respect and trust the judgment of those treating them. Balancing the likelihood of having a child with a condition and the severity and treatability of that condition becomes a crucial factor in decision-making as well. While a patient may waive any liability claims to the provider, a future child may not.
In the realm of preimplantation genetic testing, the initial expectation that transferring embryos with abnormal results would be rare is challenged by the inherent complexities of tests like PGT-A and PGT-M. Patient decisions reveal a nuanced interplay between hope and statistical uncertainties, particularly in PGT-M cases assessing conditions with diverse symptoms. These discussions are important to have prior to proceeding with testing in order to have full understanding of the implication of results on the ability to transfer an embryo as well as patient’s priorities for information.
Resources:
https://www.asrm.org/globalassets/_asrm/practice-guidance/ethics-opinions/pdf/transferring_embryos_with_genetic_anomalies_detected_in_preimplantation_testing_an_ethics_committee_opinion.pdf
https://academic.oup.com/humrep/article/24/5/1221/711233