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

doi:10.3390/ijns9040065

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

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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.

Original language	English
Article number	65
Number of pages	5
Journal	International Journal of Neonatal Screening
Volume	9
Issue number	4
DOIs	https://doi.org/10.3390/ijns9040065
Publication status	Published - 21 Nov 2023

Keywords

cystic fibrosis
evaluation
false negatives
missed cases
newborn screening
sensitivity

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IJNS-09-00065Final published version, 228 KBLicence: CC BY

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title = "Cystic Fibrosis Cases Missed by Newborn Bloodspot Screening-Towards a Consistent Definition and Data Acquisition",

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.",

keywords = "cystic fibrosis, evaluation, false negatives, missed cases, newborn screening, sensitivity",

author = "Anne Munck and Southern, \{Kevin W\} and Jared Murphy and \{de Winter-de Groot\}, \{Karin M\} and Silvia Gartner and B{\"u}lent Karadag and Nataliya Kashirskaya and Barry Linnane and Marijke Proesmans and Dorota Sands and Olaf Sommerburg and Carlo Castellani and J{\"u}rg Barben",

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month = nov,

day = "21",

doi = "10.3390/ijns9040065",

language = "English",

volume = "9",

journal = "International Journal of Neonatal Screening",

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T1 - Cystic Fibrosis Cases Missed by Newborn Bloodspot Screening-Towards a Consistent Definition and Data Acquisition

AU - Munck, Anne

AU - Southern, Kevin W

AU - Murphy, Jared

AU - de Winter-de Groot, Karin M

AU - Gartner, Silvia

AU - Karadag, Bülent

AU - Kashirskaya, Nataliya

AU - Linnane, Barry

AU - Proesmans, Marijke

AU - Sands, Dorota

AU - Sommerburg, Olaf

AU - Castellani, Carlo

AU - Barben, Jürg

PY - 2023/11/21

Y1 - 2023/11/21

N2 - 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.

AB - 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.

KW - cystic fibrosis

KW - evaluation

KW - false negatives

KW - missed cases

KW - newborn screening

KW - sensitivity

UR - https://www.scopus.com/pages/publications/85180667457

U2 - 10.3390/ijns9040065

DO - 10.3390/ijns9040065

M3 - Article

C2 - 38132824

VL - 9

JO - International Journal of Neonatal Screening

JF - International Journal of Neonatal Screening

IS - 4

M1 - 65

ER -

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

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