At Aria Fertility, we believe in empowering our patients with knowledge and support to make informed reproductive decisions. Our commitment to patient education is at the heart of everything we do. Recently, our head of the laboratory, Dr Xavier Viñals Gonzalez, in collaboration with University College London, published a study on patient perspectives after preimplantation genetic testing for aneuploidy (PGT-A). This research sheds light on the complexities and challenges faced by patients when deciding whether to transfer a non-euploid embryo. Today, we sit down with him to discuss the findings and their implications for patient care.

Dr Gonzalez, can you explain what non-euploid embryos are and why they presents a challenge in reproductive medicine?

Dr X: When we perform preimplantation genetic testing for aneuploidies or PGT-A, we typically would expect to get embryos reported as euploid (genetically normal) or aneuploid (genetically abnormal). Mosaic or segmental aneuploid embryos are non-euploid embryos which have shown to have moderate to good reproductive potential based on published literature. When a non-euploid embryo is identified, the decision to transfer such embryos offers challenges to patients as the clinical outcomes and long-term effects are often uncertain.

Your study highlights several key factors influencing patient decision-making. Can you elaborate on these?

Dr X: Certainly. Our study involved an online survey of individuals worldwide who had undergone PGT-A during their fertility journey and had a non-euploid embryo as a result. For most respondents, the type of non-euploid found was a mosaic. From their responses, we learned that the opportunity to discuss implications, the number of topics covered during consultations, and the country where the treatment was received were significant factors influencing decision-making. Additionally, respondents highlighted mismatched expectations, inadequate information provision, and an unsupportive decision-making process as major challenges.

Can you share some of the respondents’ experiences regarding mismatched expectations of PGT-A?

Dr X: Many respondents noted a gap between how IVF professionals explain PGT-A to patients and the certainty with which it is offered. Quotes in the paper reflect a common sentiment that the limitations of PGT-A may not have adequately been communicated.

How common is mosaicism in human embryos?

Dr X: This is a very good question and the answer may vary depending on which clinic you will be undergoing treatment and the genetic laboratory that will process your samples. However, we would typically expect the mosaicism rate to fall under 10% across all age groups. Not all clinics report mosaicism, so if this information is important to you – this is something you will need to discuss with your team.

What about the clinical outcomes of mosaic embryos?

Dr X: In recent years, research in mosaic embryos has shown similar reproductive outcomes compared to embryos reported as euploid – and by outcomes, I  mean sustained pregnancy/live birth and miscarriage rates.  One of the main concerns I hear from patients is how likely is this mosaicism seen on embryos to be present at birth; and from what we know, this is very unlikely. It is important to also note that there are different types of mosaic and other non-euploid embryos (ie. non-mosaic segmental), with varying outcomes. We are very active in the area of human reproductive genetics and we hope to share the work we are doing soon.

Respondents also mentioned inadequate information provision from clinics. Can you discuss this issue?

Dr X: Yes, some respondents expressed that their clinics provided limited or no information about PGT-A ahead of the testing. Less than a quarter of the respondents were given information about the use of non-euploid embryos and only 17.5% were aware of the risk of miscarriage after PGT-A. One respondent said, “There was no discussion other than it was included into the IVF package.” This lack of detailed information led many patients to undertake their own self-directed research, often relying on medical literature, peers, private genetic counsellors, and social media groups.

How does Aria address these concerns?

Dr X: At Aria, we are committed to providing comprehensive and transparent information to our patients. We believe in clear, patient-centered communication to help patients understand their options. Our team is available to discuss the implications of PGT-A results and answer any questions. We strive to create a supportive environment where patients feel empowered and informed. We have an excellent Genetic Counselling support service that explores complex genetic information with patients so they can understand some of these terminologies in the context of current evidence in the field.

What are the global trends and insights from your study?

Dr X: It’s important to note that the data in our study comes from patients worldwide, with a higher proportion of respondents having received treatment in the US. This highlights global trends and could provide insights into how different populations navigate non-euploid embryo transfers.

What are the next steps for research in this area?

Dr X: The field of reproductive genetics (and embryology) is continuously evolving. Studies on non-euploid embryos, show that some previously not recommended for treatment could now be considered after careful consideration. The eldest baby born from a mosaic embryo in our dataset was 3 years old at the moment of response and met all developmental milestones. Research on live birth data and developmental milestones could bring further reassurance to patients and professionals.  Our research highlights the need for further studies to better understand the experiences and needs of specific patient groups. By expanding our understanding, we can continue to improve the support and information we provide to our patients. We are committed to advancing reproductive medicine and ensuring our patients have the best possible care and support.

Thank you for sharing these insights. Any final thoughts for our readers?

Dr X: At Aria, we are dedicated to helping our patients navigate the complexities of human reproduction with information based on internal evidence and experience, considering global trends. It is part of our human nature to want to quantify success in numbers, and with the broad information we have online nowadays it is difficult for patients to gather whether that is relevant to them or not. If you have any questions or need more information about genetic testing, please don’t hesitate to reach out to our team.

Click here to read the research in full >

For more advice on preimplantation genetic testing for aneuploidy (PGT-A), call +44 (0) 203 263 6025 or email admin@ariafertility.co.uk to arrange a consultation with one of our fertility experts.