Decision-Making Around Preimplantation Genetic Testing by Individuals With Neurofibromatosis Type I: A Qualitative Study.

Preimplantation genetic testing for monogenic conditions (PGT-M) with in vitro fertilization (IVF) is a reproductive technology that reduces the chance of passing down known genetic variants to future children. While prior research has explored reproductive decision-making for individuals with neurofibromatosis Type 1 (NF1), few studies describe the factors that influence their choices to pursue or not pursue IVF with PGT-M. Adults with NF1 in the United States who had received reproductive counseling around IVF with PGT-M were recruited from the Children's Tumor Foundation NF Registry. We conducted virtual semi-structured qualitative interviews that assessed participants' reproductive choices and lived experiences in the context of NF1. Transcripts were de-identified, coded, and thematically analyzed using the Framework Method. Coding matrices were created to synthesize data and generate themes. We interviewed 20 individuals with NF1: 12 who pursued and 8 who did not pursue IVF with PGT-M. Four key themes emerged around reproductive decision-making: (1) Personal values and preferences, (2) Practical considerations, (3) Input from others, and (4) Retrospective feelings and future considerations. The choice of whether to pursue IVF with PGT-M for NF1 is a personal and nuanced decision affected by the emotional, financial, and time commitments of IVF with PGT-M. During counseling, clinicians should consider a patient's family history of NF1 and address the clinical variability of NF1 to facilitate reproductive decision-making. Many participants reported increased neurofibroma growth during IVF or pregnancy and expressed concerns about undergoing IVF or carrying future pregnancies due to this perceived risk. Future research should address these concerns to improve reproductive counseling for individuals with NF1.