Suppr超能文献

处理囊性纤维化的新生儿血斑筛查结果。

Processing Newborn Bloodspot Screening Results for CF.

作者信息

Barben Jürg, Chudleigh Jane

机构信息

Division of Paediatric Pulmonology & CF Centre, Children's Hospital of Eastern Switzerland, 9006 St. Gallen, Switzerland.

School of Health Sciences, City, University of London, London EC1V 0HB, UK;

出版信息

Int J Neonatal Screen. 2020 Mar 25;6(2):25. doi: 10.3390/ijns6020025. eCollection 2020 Jun.

Abstract

Every newborn bloodspot screening (NBS) result for cystic fibrosis (CF) consists of two parts: a screening part in the laboratory and a clinical part in a CF centre. When introducing an NBS programme, more attention is usually paid to the laboratory part, especially which algorithm is most suitable for the region or the country. However, the clinical part, how a positive screening result is processed, is often underestimated and can have great consequences for the affected child and their parents. A clear algorithm for the diagnostic part in CF centres is also important and influences the performance of a CF NBS programme. The processing of a positive screening result includes the initial information given to the parents, the invitation to the sweat test, what to do if a sweat test fails, information about the results of the sweat test, the inconclusive diagnosis and the carrier status, which is handled differently from country to country. The time until the definitive diagnosis and adequate information is given, is considered by the parents and the CF team as the most important factor. The communication of a positive NBS result is crucial. It is not a singular event but rather a process that includes ensuring the appropriate clinicians are aware of the result and that families are informed in the most efficient and effective manner to facilitate consistent and timely follow-up.

摘要

每一份新生儿囊性纤维化(CF)血斑筛查结果都由两部分组成:实验室的筛查部分和CF中心的临床部分。在引入新生儿血斑筛查项目时,通常更多关注实验室部分,尤其是哪种算法最适合该地区或国家。然而,临床部分,即如何处理阳性筛查结果,往往被低估,且可能对患病儿童及其父母产生重大影响。CF中心诊断部分的清晰算法也很重要,会影响CF新生儿血斑筛查项目的实施效果。阳性筛查结果的处理包括向父母提供的初始信息、汗液测试的邀请、汗液测试失败时的应对措施、汗液测试结果的信息、不确定诊断以及携带者状态,不同国家对此处理方式不同。父母和CF团队认为,直到做出明确诊断并提供充分信息的这段时间是最重要的因素。阳性新生儿血斑筛查结果的沟通至关重要。这不是一个单一事件,而是一个过程,包括确保相关临床医生知晓结果,并以最有效率和效果的方式通知家庭,以促进持续且及时的后续跟进。

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验