German newborn screening for Cystic fibrosis: Parental perspectives and suggestions for improvements

PurposeCystic fibrosis (CF) was added to the German newborn bloodspot screening (NBS) panel in 2016. This study assesses parental perceptions of CF-NBS and confirmatory testing. MethodsProspective questionnaire-based survey administered to parents of children with positive CF-NBS over 40 months after initiation of CF-NBS in Southwest Germany. Parental perceptions were compared to results from Bavaria and Switzerland. ResultsQuestionnaires with 29 standardized questions were sent to 343 families with children born between October 2016 and January 2020. A total of 178 (51.9%) replied. Although required by law, only a minority were informed about CF-NBS by a physician. The information provided about NBS was sufficient for 78% of parents. Regarding the information about positive CF-NBS, 52.9% were satisfied but the majority expressed negative emotions (89.5%). While most of these were resolved after confirmatory diagnostics, 17% of parents of children with false-positive CF-NBS and 66.7% of children confirmed with CF remained anxious. Waiting time for sweat testing was >3 days in 56.1%, considerably longer than in more centralized screening systems. Parents who waited for a maximum of 3 days were significantly more satisfied. 70.7% of parents were satisfied with the information given during confirmatory diagnostics and 91.4% were satisfied with participating in CF-NBS. ConclusionsCF-NBS stands in high regard with parents. Smooth organization, timely initiation of confirmatory testing, and professional communication are most important to limit parental anxiety. A more centralized system of confirmatory diagnostics appears advantageous in several regards as it reduces time from positive NBS to final diagnosis and increases parental satisfaction.

Automated summary

CF-NBS is highly regarded by parents, but there are still some issues. Only a minority of parents were informed about CF-NBS by a physician, despite it being required by law. Parents were relatively satisfied with the information provided about NBS and positive CF-NBS, but the majority expressed negative emotions. While most parents' emotions were resolved after confirmatory testing, some parents of false-positive cases and confirmed CF cases remained anxious. Parents who had to wait for a longer time for confirmatory testing were less satisfied. Parents were generally satisfied with the information provided during confirmatory diagnostics and participating in CF-NBS.