Attitudes Toward Prenatal Interventions in the Fanconi Anemia Community

In-utero cell and gene therapies may offer prenatal treatment options for inherited diseases. Preclinical data suggests in-utero (IU) hematopoietic stem cell transplantation (HSCT) could prevent Fanconi anemia (FA) related bone marrow failure without genotoxic conditioning or immune suppression. This study surveyed patient and caregiver attitudes within the FA community toward prenatal diagnosis, interventions, and clinical trials.

A multidisciplinary team created and distributed an online survey through the leading FA patient advocacy group. Respondents' demographic, history, and treatment data were collected, and their attitudes toward prenatal diagnosis, IU therapies, and pregnancy termination were analyzed using univariable ordinal logistic regression.

72 members from 18 countries completed the survey. Among the respondents, 76% were willing to undergo IU-HSCT if it was FDA approved, whereas 68% would consider enrolling in a clinical trial to assess the safety and efficacy of IU-HSCT or IU-gene therapy. 71% would undergo invasive prenatal testing in any at risk pregnancy to confirm FA and 56% were unlikely to terminate an affected pregnancy.

In-utero therapy is a developing alternate treatment strategy for rare, inherited diseases. Although electronic surveys have inherent limitations, this tool enabled efficient assessment of FA community attitudes with a favorable response to prenatal diagnosis and therapies. These insights encourage efforts to advance IU-cell and gene therapy clinical trials and to continue to evaluate community attitudes as these therapies develop. This work may also provide insights into the attitudes of other rare inherited disease communities.