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

Other authors

Institut Català de la Salut

[Munck A] Hospital Necker Enfants-Malades, AP-HP, CF Centre, University Paris Descartes, Paris, France. [Southern KW, Murphy J] Department of Women’s and Children’s Health, University of Liverpool, Liverpool, UK. [de Winter-de Groot KM] Department of Paediatric Pulmonology & Allergology, Wilhelmina Children’s Hospital, University Medical Centre Utrecht, Utrecht University, Utrecht, The Netherlands. [Gartner S] Unitat de Pneumologia Pediàtrica i Fibrosi Quística, Vall d’Hebron Hospital Universitari, Barcelona, Spain. [Karadag B] Department of Pediatric Pulmonology, Marmara University, Istanbul, Turkey

Vall d'Hebron Barcelona Hospital Campus

Publication date

2024-01-24T13:24:17Z

2024-01-24T13:24:17Z

2023-11-21



Abstract

Cystic fibrosis; False negatives; Newborn screening


Fibrosis quística; Falsos negativos; Cribado neonatal


Fibrosi quística; Falsos negatius; Cribratge neonatal


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.

Document Type

Article


Published version

Language

English

Publisher

MDPI

Related items

International Journal of Neonatal Screening;9(4)

https://doi.org/10.3390/ijns9040065

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Rights

Attribution 4.0 International

http://creativecommons.org/licenses/by/4.0/

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