UCLA

This paper explores fragile X newborn screening (FXNBS) from the perspective of parents whose newborns were diagnosed as FX premutation carriers as a result of their participation in a FXNBS pilot project conducted at the University of California, Davis. Interviews conducted with 6 such parents are analyzed and parents grouped into three response categories, negative, mixed, and positive, based on statements about their contentment with participation in the study as communicated in the interviews. Negative aspects of screening, as communicated by parents, include the ambiguous nature of the diagnosis of a low range premutation and heightened anxiety related to the development of the newborn. Positive aspects include feelings of empowerment from the knowledge received about the newborn and confidence that any developmental problems that emerge can be treated by the FX research and treatment team that ran the project. This paper represents the first report of responses to FXNBS from parents of identified newborns. The analysis presented here leads to three considerations that will minimize harm and maximize benefit if FXNBS is implemented. These include 1) utilizing effective educational materials to inform parents of the risks associated with screening, 2) reporting only FX mutations that likely have clinical relevance, and 3) implementing comprehensive follow-up.