학술논문

Cystic Fibrosis Cases Missed by Newborn Bloodspot Screening—Towards a Consistent Definition and Data Acquisition
Document Type
article
Source
International Journal of Neonatal Screening, Vol 9, Iss 4, p 65 (2023)
Subject
cystic fibrosis
newborn screening
evaluation
sensitivity
false negatives
missed cases
Pediatrics
RJ1-570
Language
English
ISSN
2409-515X
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.