Optimization of performance of Dutch newborn screening for cystic fibrosis.
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Series / Report no.
Open Access
Type
Article
Language
en
Date
2023-09-14
Research Projects
Organizational Units
Journal Issue
Title
Optimization of performance of Dutch newborn screening for cystic fibrosis.
Translated Title
Published in
J Cyst Fibros 2024; 23(1):120-125
Abstract
Dutch protocol consists of four steps: determination of immunoreactive trypsinogen (IRT) and pancreatitis-associated protein (PAP), DNA analysis by INNO-LiPA and extended gene analysis (EGA). For the optimization phase we used results of 556,952 newborns screened between April 2011 and June 2014 to calculate effects of 13 alternative protocols on sensitivity, specificity, PPV, ratios of CF to other diagnoses, and costs. One alternative protocol was selected based on calculated sensitivity, PPV and costs and was implemented on 1st July 2016. In this modified protocol DNA analysis is performed in samples with a combination of IRT ≥60 µg/l and PAP ≥3.0 µg/l, IRT ≥100 µg/l and PAP ≥1.2 µg/l or IRT ≥124 µg/l and PAP not relevant. Results of 599,137 newborns screened between 1st July 2016 and 31st December 2019 were similarly evaluated as in the optimization phase.