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It All Depends What You Count—The Importance of Definitions in Evaluation of CF Screening Performance

by Natasha Heather 1,2,* and Dianne Webster 1,2
1
National Newborn Metabolic Screening programme, LabPlus, Auckland City Hospital, Auckland 1148, New Zealand
2
Liggins Institute, University of Auckland, Auckland 1023, New Zealand
*
Author to whom correspondence should be addressed.
Int. J. Neonatal Screen. 2020, 6(2), 47; https://doi.org/10.3390/ijns6020047
Received: 15 May 2020 / Revised: 8 June 2020 / Accepted: 8 June 2020 / Published: 10 June 2020
(This article belongs to the Special Issue Newborn Screening for Cystic Fibrosis)
Screening metrics are essential to both quality assessment and improvement, but are highly dependent on the way positive tests and cases are counted. In cystic fibrosis (CF) screening, key factors include how mild cases of late-presenting CF and CF screen positive, inconclusive diagnosis (CFSPID) are counted, whether those at prior increased risk of CF are excluded from the screened population, and which aspects of the screening pathway are considered. This paper draws on the New Zealand experience of almost forty years of newborn screening for CF. We demonstrate how different definitions impact the calculation of screening sensitivity. We suggest that, to enable meaningful comparison, CF screening reports should clarify what steps in the screening pathway are included in the assessment, as well as the algorithm used and screening target. View Full-Text
Keywords: newborn screen; target disorder; missed case; sensitivity; cystic fibrosis; CFSPID; immunoreactive trypsin; meconium ileus newborn screen; target disorder; missed case; sensitivity; cystic fibrosis; CFSPID; immunoreactive trypsin; meconium ileus
MDPI and ACS Style

Heather, N.; Webster, D. It All Depends What You Count—The Importance of Definitions in Evaluation of CF Screening Performance. Int. J. Neonatal Screen. 2020, 6, 47.

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