Exploring experiences and perceptions of fertility and reproductive technology among people with sickle cell disease

Abstract Background: Sickle cell disease (SCD) is an autosomal recessive inherited blood disorder that impacts about 100,000 people in the United States. The management of SCD has improved significantly over the past few decades, resulting in increased survival into adulthood. This necessitates further consideration of how SCD affects family building, including partner testing for sickle cell trait (SCT) and the impact of SCD and treatment options on fertility, but there is limited research on the understanding and perceptions of these implications among adults with SCD. In this study, we aimed to explore how people with SCD understand fertility implications of SCD and their perceptions of genetic testing and assisted reproductive technology (ART), such as in vitro fertilization (IVF) and/or preimplantation genetic testing (PGT). Methods: Patients were identified and recruited from the Ohio State University (OSU) Sickle Cell Center in a convenience sampling approach. Patients were eligible if they had a diagnosis of SCD (any genotype), were between 18-35 years old, and self-identified as being interested in having a biological child in the future. One-on-one semi-structured interviews were held to discuss their understanding of the impact of SCD on fertility, previous counseling on reproductive options, experience with discussing SCT testing for partners, understanding of IVF, and perceptions of PGT. Interviews were transcribed and thematically analyzed using inductive coding by two coders using NVivo software. Results: We approached 21 patients and completed 11 interviews (81% female, 100% Black or African American, mean age 30.6 years old, 45% hemoglobin SS). We identified five themes that reached saturation as below with illustrative quotes. Theme 1) Providers gave limited support for reproductive planning. “I was seeking out doctors to pretty much get their opinion to see one if they think that I could carry? And how it would affect me with sickle cell disease? But they were just pretty much telling me like, ‘Oh, well you should probably kind of avoid it.... Oh, why put yourself through that?‘ And then I got 3 doctors that was just like this pregnancy is probably not going to be good.” Theme 2) Participants had a lack of understanding what pregnancy would be like with SCD. “As far as like the genetics I get that that’s pretty I feel like straightforward. But as far as, like, just what the pregnancy stuff is going to be like and what I can do to make it as safe as possible if I do, that is what I would want to know with regards to my sickle cell.” Theme 3) Burden of reproductive planning fell on participants individually. “I do know a lot of the information shared with me was not necessarily shared with my partner. I always had to relay the information or the doctor’s point of view and stuff like that.” Theme 4) Potential financial burden prevented participants from seriously considering ART. “So yeah, if I had the money, or if, like health insurance covered it, then I would do it but... uh, that’s not really something I’ve thought about, because I know it’s expensive.” Theme 5) Participants wanted earlier and frequent discussions with their providers about reproductive options. “I’m kind of a little saddened to have this conversation with you and realize how much information I missed. But yeah, I would like to know about it in the future.” Discussion: There is little research which investigates the reproductive needs of adults with SCD, and this study identifies priorities of adults with SCD in fertility counseling, including further information on pregnancy planning, educational resources for partners, and early frequent conversations about fertility options. As treatment for SCD continues to improve and life expectancy increases, it is imperative for providers to effectively counsel patients on their family building and reproductive options. Additionally, financial barriers must be mitigated to make ART accessible to patients with SCD who are interested in its use, as the lifetime cost of SCD treatment is higher than PGT with IVF. Future fertility-related research is needed to develop clinical guidelines for family building counseling delivery to adults with SCD and policies to make ART more accessible to people with SCD.