Thesis

The impact of fragile x newborn screening results on reproductive choices and surveillance for FMR1-associated disorders

The aim of the study was to explore the impact of the identification of a fragile X (FX) premutation (PM) through newborn screening (NBS) on family members’ reproductive plans and surveillance for FMR1-associated disorders. A proposed benefit of detecting newborns with a PM is early intervention, considering the potential risks of learning, behavioral, medical, and mental health issues. Identification of relatives with the PM may be beneficial for surveillance and treatment of FX-associated tremor ataxia syndrome (FXTAS) and primary ovarian insufficiency (FXPOI). However, it may cause worries for families, even though presentation of problems is uncommon and uncertain. Quantitative and qualitative data collection included a survey administered to family members of newborns with a PM, which was analyzed using descriptive statistics. All parents reported that they do not worry about their child meeting their developmental milestones; although some expressed worry in the beginning. The majority of parents did not think it was likely that their children were at risk for FMR1-associated disorders. Individuals at-risk for having additional children with a PM or FX syndrome reported that they have not changed their reproductive plans; although some indicated consideration of alternate reproductive options. Two participants were found to be PM carriers and both were not concerned about developing FXTAS or FXPOI. Thus, in this study, the outcome of NBS did not seem to cause additional concerns for families of newborns with a PM, considering the risks for FMR1-associated disorders in infancy or childhood and adult onset risks for PM carrier relatives.

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