Parental Perceptions and Decision-Making Processes Regarding Expanded Newborn Screening: A Qualitative Study

Newborn bloodspot screening (NBS) has expanded in scope owing to technological advances and the development of novel therapies. In Japan, coverage of standard NBS is nearly 100%; however, uptake of expanded newborn bloodspot screening (eNBS), which has been increasingly introduced across many regions of the country in recent years, varies across municipalities and healthcare institutions. To explore parental perspectives on eNBS, we conducted a qualitative study using semi-structured interviews with mothers of newborns delivered at Shizuoka General Hospital. Data were analyzed using reflexive thematic analysis. Stratified purposive sampling based on eNBS uptake was used to recruit both parents who accepted and those who declined eNBS, resulting in 24 participants. Three main themes were identified: (1) difficulty understanding unfamiliar rare diseases; (2) subjective interpretation based on personal experiences; and (3) perceptions of screening programs and associated costs. These themes suggested a sequential interpretive process; however, interpretations of the latter two themes varied between participants who accepted and those who declined eNBS. To support informed parental decision-making regarding eNBS and reduce barriers to screening among those who accept it, efforts should include communication tailored to parents’ information needs, measures to prevent social disadvantage and discrimination associated with early identification of disease, and consideration of public financial support.