City, University of London, London EC1V 0HB, United Kingdom.
Indiana University School of Medicine, Indianapolis 46202, United States.
J Cyst Fibros. 2019 Sep;18(5):614-621. doi: 10.1016/j.jcf.2019.04.004. Epub 2019 Apr 30.
Newborn bloodspot screening (NBS) for cystic fibrosis (CF) is a well-established public health strategy with international standards. A European survey demonstrated considerable variability in approach to delivering a positive NBS result. We used a mixed methods approach to explore healthcare systems and beliefs around this process.
We used semi-structured interviews and online questionnaires with a purposive, international sample of health professionals involved in communicating positive NBS results to parents. Data were analysed using thematic analysis and Qualtrics Survey Software.
In total, 63 healthcare professionals were approached; 25 interviews were conducted with delegates at the 2017 ECFS conference, 4 online questionnaires were subsequently completed by participants in the EU, 1 from Australia and 33 from the US. Methods used to communicate positive NBS results to families varied considerably. This influenced the quality and quantity of information provided which had the potential to heighten anxiety and affect timely diagnostic testing. Participants identified positive practices including systems to improve the timeliness of screening and processing of results, as well as areas for improvement. Respondents stated that knowledge of CF and familiarity with the family were both important when deciding who should communicate positive NBS results.
Guidance and practice regarding communication of positive NBS results for CF to families varies considerably internationally. Further research is needed to ensure information received is accurate, up-to-date and from the most appropriate person. Also, that all children are followed up in a timely manner to minimise potential negative outcomes for the child and family.
新生儿足跟血筛查（NBS）用于囊性纤维化（CF）是一项成熟的公共卫生策略，具有国际标准。一项欧洲调查表明，在处理阳性 NBS 结果的方法上存在相当大的差异。我们使用混合方法探讨了围绕这一过程的医疗保健系统和信念。
我们使用半结构式访谈和在线问卷，对参与向父母传达阳性 NBS 结果的国际卫生专业人员进行了有针对性的抽样调查。使用主题分析和 Qualtrics 调查软件对数据进行分析。
共接触了 63 名医疗保健专业人员；2017 年 ECFS 会议上对代表进行了 25 次访谈，随后 4 名代表在线完成了问卷，1 名来自澳大利亚，33 名来自美国。向家庭传达阳性 NBS 结果的方法差异很大。这影响了提供的信息量和质量，有可能增加焦虑并影响及时的诊断测试。参与者确定了一些积极的做法，包括改善筛查和处理结果的及时性的系统，以及需要改进的领域。受访者表示，在决定谁应该传达阳性 NBS 结果时，CF 知识和对家庭的熟悉程度都很重要。
国际上对向家庭传达 CF 阳性 NBS 结果的指导和实践存在相当大的差异。需要进一步研究，以确保所收到的信息准确、最新，并来自最合适的人。此外，还应及时对所有儿童进行随访，以尽量减少对儿童和家庭的潜在负面影响。
