Negotiating desires and options: How mothers who carry the fragile X gene experience reproductive decisions

This paper contributes an empirically-based analysis of how women negotiate reproductive desires and constructions of risk in light of genetic information for a single-gene disorder with known inheritance patterns. Fragile X syndrome (FXS) is the most common cause of inherited intellectual disability and female carriers have a 50% probability with each pregnancy of transmitting the FX gene. We present data from interviews conducted with 108 mothers across the U.S. who participated in a longitudinal, mixed methods study on family adaptations to FXS and who have at least one child with FXS. Women’s accounts of their reproductive desires, actions, and reasoning indicate that the known 50% risk of transmitting the FX gene was a powerful deterrent to attempting to have more children through unmediated pregnancy. The majority (77%) decided not to have any more biological children after carrier diagnosis. This decision often required revising previous plans for how many children they would have, how and when they would have them, and what kind of mothers they would be. However, genetic risk was not a primary consideration in the reproductive calculations of 22 women who chose to continue planned and unplanned unmediated pregnancies. Though women’s reproductive negotiations are constrained by medical discourse and practices, they are also unpredictable and emerge out of lived experiences and sometimes ambivalent ways of reckoning. While increased availability and accuracy of genetic information and testing contribute to certain forms of family planning that prioritize genetic risk management, we also find that some families call upon alternative understandings and desires for making a family to articulate genetic risk and negotiate their reproductive futures.

► Presents longitudinal interview data with 108 US women who had at least one child with fragile X syndrome (FXS) and were carriers of FXS.
►  Examines how women who are known carriers reconcile their perceptions of genetic risk with their desires to make a family.
► Examines accounts of the majority of women (77%) who decided not to have more biological children after carrier diagnosis.
► Examines accounts of a significant minority (22) who had more children despite the genetic risk.
► Provides a nuanced analysis of the heterogeneous ways that genetic information is given meaning.