The Complexity Around Mosaic Embryo Decision Making– A Genetic Counselling Perspective

Abstract

Background: In recent years there is an evident increase in the interest of transferring mosaic embryos. Our genetic counselling team have reported mosaic results to over 250 patients since the beginning of 2020, and there is an upward trend in patient interest, and willingness to consider transfer. As patients continue to request the transfer of mosaic embryos, and research advances regarding transfer outcomes, it is critical that the genetic/medical professionals who counsel these patients are aware of the complex factors that feed into important decision making. Aim: To explore the genetic counselling perspectives on counselling issues for patients considering transfer of a mosaic embryo, including barriers, commonalities, and themes that impact their decision pathway. Method: Fundamental thematic analysis on genetic counselling consultation notes detailing questions, concerns, motivations, and decision outcomes was utilized for gaining a preliminary perspective. Specific case vignettes help highlight the complexity in these decisions. Results: Depending on the result, patients with PGT-A NGS reported mosaic embryo(s) have the option to consider transfer, retaining, or discarding these embryos. Thematic analysis revealed themes regarding factors that influence decision making. Patients less likely to proceed with embryo transfer: highly risk averse, poor management of uncertainty, perceived limited options, lived experience of unhealthy pregnancy or birth (ie. family/friend), complex reproductive history (ie. multiple miscarriages), and high emotional burden of the decision. Patients more likely to proceed with transfer: extensive fertility journey, high level of information comprehension, encouraging community support, low emotional burden of the decision, and awareness of age-related limitations. Conclusion: Our work highlights potential benefits of a genetic counselling guideline of factors to present/challenge to patients, as each patient has their own journey.