The impact of aneuploidy screening for embryo selection in preimplantation genetic testing for monogenenic disorders

Abstract

settings (56%). The majority of respondents (76%) routinely recommended ECS to patients. Eighty five percent of respondents believed that all patients should be offered ECS, ideally prior to pregnancy. ECS knowledge base was not influenced by provider age or years from training. Compared to providers in an academic setting, providers in the private setting were more likely to know the correct technology used for ECS (82.6% vs. 61.1%, p¼0.12) and the number of diseases screened (91.3% vs. 66.7%, p¼0.04). Compared to generalists, subspecialists were also more likely to answer these questions correctly (81.8% vs. 70%, p¼0.44; 100% vs. 76.7%, p¼0.07). The top 3 concerns limiting the use of ECS were time spent on counseling patients about results (56%), financial burden to patients (54%), and time spent on following up on patient results (44%). If both a patient and her partner screened positive, 61% would refer to a genetic counselor (GC), while 24% would refer to a reproductive endocrinologist. CONCLUSIONS: Many OB/GYNs are knowledgeable about the benefits and limitations of ECS and routinely offer ECS to patients. However, this study demonstrates a need for additional resources to ensure that concerns and knowledge gaps are appropriately addressed, and highlights a critical role for GCs as physician educators. ECS has the potential to prevent transmission of deleterious mutations to the next generation, provided that OB/ GYNs, GCs, and sub-specialists are engaged in this effort.