新生儿血斑筛查漏诊的囊性纤维化病例--实现一致的定义和数据采集。

IF 4 Q1 GENETICS & HEREDITY

International Journal of Neonatal Screening Pub Date : 2023-11-21 DOI:10.3390/ijns9040065

Anne Munck, Kevin W Southern, Jared Murphy, Karin M de Winter-de Groot, Silvia Gartner, Bülent Karadag, Nataliya Kashirskaya, Barry Linnane, Marijke Proesmans, Dorota Sands, Olaf Sommerburg, Carlo Castellani, Jürg Barben

{"title":"新生儿血斑筛查漏诊的囊性纤维化病例--实现一致的定义和数据采集。","authors":"Anne Munck, Kevin W Southern, Jared Murphy, Karin M de Winter-de Groot, Silvia Gartner, Bülent Karadag, Nataliya Kashirskaya, Barry Linnane, Marijke Proesmans, Dorota Sands, Olaf Sommerburg, Carlo Castellani, Jürg Barben","doi":"10.3390/ijns9040065","DOIUrl":null,"url":null,"abstract":"Repeated European surveys of newborn bloodspot screening (NBS) have shown varied strategies for collecting missed cases, and information on data collection differs among countries/regions, hampering data comparison. The ECFS Neonatal Screening Working Group defined missed cases by NBS as either false negatives, protocol-related, concerning analytical issues, or non-protocol-related, concerning pre- and post-analytical issues. A questionnaire has been designed and sent to all key workers identified in each NBS programme to assess the feasibility of collecting data on missed cases, the stage of the NBS programme when the system failed, and individual patient data on each missed case.","PeriodicalId":14159,"journal":{"name":"International Journal of Neonatal Screening","volume":"9 4","pages":""},"PeriodicalIF":4.0000,"publicationDate":"2023-11-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10743499/pdf/","citationCount":"0","resultStr":"{\"title\":\"Cystic Fibrosis Cases Missed by Newborn Bloodspot Screening-Towards a Consistent Definition and Data Acquisition.\",\"authors\":\"Anne Munck, Kevin W Southern, Jared Murphy, Karin M de Winter-de Groot, Silvia Gartner, Bülent Karadag, Nataliya Kashirskaya, Barry Linnane, Marijke Proesmans, Dorota Sands, Olaf Sommerburg, Carlo Castellani, Jürg Barben\",\"doi\":\"10.3390/ijns9040065\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Repeated European surveys of newborn bloodspot screening (NBS) have shown varied strategies for collecting missed cases, and information on data collection differs among countries/regions, hampering data comparison. The ECFS Neonatal Screening Working Group defined missed cases by NBS as either false negatives, protocol-related, concerning analytical issues, or non-protocol-related, concerning pre- and post-analytical issues. A questionnaire has been designed and sent to all key workers identified in each NBS programme to assess the feasibility of collecting data on missed cases, the stage of the NBS programme when the system failed, and individual patient data on each missed case.\",\"PeriodicalId\":14159,\"journal\":{\"name\":\"International Journal of Neonatal Screening\",\"volume\":\"9 4\",\"pages\":\"\"},\"PeriodicalIF\":4.0000,\"publicationDate\":\"2023-11-21\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10743499/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"International Journal of Neonatal Screening\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.3390/ijns9040065\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q1\",\"JCRName\":\"GENETICS & HEREDITY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"International Journal of Neonatal Screening","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.3390/ijns9040065","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"GENETICS & HEREDITY","Score":null,"Total":0}

引用次数: 0

摘要

欧洲反复进行的新生儿血斑筛查（NBS）调查显示，收集漏检病例的策略各不相同，而且各国/各地区的数据收集信息也不尽相同，这妨碍了数据比较。ECFS 新生儿筛查工作组将 NBS 的漏检病例定义为假阴性病例、与分析问题有关的协议相关病例或与分析前后问题有关的非协议相关病例。已设计了一份调查问卷，并发送给每个新生儿筛查计划中确定的所有关键工作人员，以评估收集漏报病例数据的可行性、系统出现故障时新生儿筛查计划所处的阶段以及每个漏报病例的单个患者数据。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

查看原文本刊更多论文

Cystic Fibrosis Cases Missed by Newborn Bloodspot Screening-Towards a Consistent Definition and Data Acquisition.

Repeated European surveys of newborn bloodspot screening (NBS) have shown varied strategies for collecting missed cases, and information on data collection differs among countries/regions, hampering data comparison. The ECFS Neonatal Screening Working Group defined missed cases by NBS as either false negatives, protocol-related, concerning analytical issues, or non-protocol-related, concerning pre- and post-analytical issues. A questionnaire has been designed and sent to all key workers identified in each NBS programme to assess the feasibility of collecting data on missed cases, the stage of the NBS programme when the system failed, and individual patient data on each missed case.

求助全文

通过发布文献求助，成功后即可免费获取论文全文。去求助

来源期刊

International Journal of Neonatal Screening Medicine-Pediatrics, Perinatology and Child Health

CiteScore

6.70

自引率

20.00%

发文量

审稿时长

11 weeks