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

Author:

Munck Anne1ORCID,Southern Kevin W.2,Murphy Jared2,de Winter-de Groot Karin M.3,Gartner Silvia4ORCID,Karadag Bülent5ORCID,Kashirskaya Nataliya6ORCID,Linnane Barry7,Proesmans Marijke8ORCID,Sands Dorota9,Sommerburg Olaf1011ORCID,Castellani Carlo12ORCID,Barben Jürg13

Affiliation:

1. Hospital Necker Enfants-Malades, AP-HP, CF Centre, University Paris Descartes, 75015 Paris, France

2. Department of Women’s and Children’s Health, University of Liverpool, Liverpool L69 3BX, UK

3. Department of Paediatric Pulmonology & Allergology, Wilhelmina Children’s Hospital, University Medical Centre Utrecht, Utrecht University, 3508 AB Utrecht, The Netherlands

4. Pediatric Pulmonology and Cystic Fibrosis Unit, Hospital Universitari Vall d’Hebron, 08035 Barcelona, Spain

5. Department of Pediatric Pulmonology, Marmara University, 34890 Istanbul, Turkey

6. Laboratory of Genetic Epidemiology, Research Centre for Medical Genetics, Moscow Regional Research and Clinical Institute, Moscow 115522, Russia

7. School of Medicine and Centre for Interventions in Infection, Inflammation & Immunity (4i), University of Limerick, V94 T9PX Limerick, Ireland

8. Division of Woman and Child, Department of Pediatrics, University Hospitals Leuven, 3000 Leuven, Belgium

9. Cystic Fibrosis Department, Institute of Mother and Child, 01-211 Warsaw, Poland

10. Paediatric Pulmonology, Allergology & CF Centre, Department of Paediatrics III, University Hospital Heidelberg, 69120 Heidelberg, Germany

11. Translational Lung Research Center, German Lung Research Center, University Hospital Heidelberg, 69120 Heidelberg, Germany

12. Cystic Fibrosis Center, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy

13. Paediatric Pulmonology & CF Centre, Children’s Hospital of Eastern Switzerland, 9000 St. Gallen, Switzerland

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.

Publisher

MDPI AG

Subject

Obstetrics and Gynecology,Immunology and Microbiology (miscellaneous),Pediatrics, Perinatology and Child Health

Cited by 2 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献

同舟云学术

1.学者识别学者识别

2.学术分析学术分析

3.人才评估人才评估

"同舟云学术"是以全球学者为主线,采集、加工和组织学术论文而形成的新型学术文献查询和分析系统,可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容,当前同舟云学术共收录了国内外主流学术期刊6万余种,收集的期刊论文及会议论文总量共计约1.5亿篇,并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询!咨询电话:010-8811{复制后删除}0370

www.globalauthorid.com

TOP

Copyright © 2019-2024 北京同舟云网络信息技术有限公司
京公网安备11010802033243号  京ICP备18003416号-3