Title
Novel strategies in newborn screening for cystic fibrosis: A prospective controlled study
Author
Vernooij-Van Langen, A.M.M.
Loeber, J.G.
Elvers, B.
Triepels, R.H.
Gille, J.J.P.
van der Ploeg, C.P.B.
Reijntjens, S.
Dompeling, E.
Dankert-Roelse, J.E.
Publication year
2012
Abstract
Context: Newborn screening for cystic fibrosis (CF) is included in many routine programmes but current strategies have considerable drawbacks, such as false-positive tests, equivocal diagnosis and detection of carriers. Objective: To assess the test performance of two newborn screening strategies for CF. Design, setting and participants: In 2008 and 2009, CF screening was added to the routine screening programme as a prospective study in part of the Netherlands. Interventions: Two strategies were performed in all newborns. In the first strategy, concentrations of immunoreactive trypsinogen (IRT) and pancreatitis-associated protein (PAP) were measured. In the second method, samples with IRT ≥60 μg/litre were analysed for 36 CFTR mutations, followed by sequencing when a single mutation was detected. Tests were positive only with two identified CFTR mutations. Main outcome: Sensitivity, specificity and positive predictive value (PPV) of both screening strategies. Results: 145 499 infants were screened. The IRT/PAP approach showed a sensitivity of 95.0%, a specificity of 99.897% and a PPV of 12.3%. Test properties for the IRT/DNA/sequencing strategy were respectively 100%, 100% and 64.9%. Combining both strategies (IRT/PAP/DNA/sequencing) led to a sensitivity of 95.0%, a specificity of 100% and a PPV of 87.5%. Conclusion: In conclusion, all strategies performed well. Although there was no statistically significant difference in test performance, the IRT/DNA/sequencing strategy detected one infant that was missed by IRT/PAP (/DNA/sequencing). IRT/PAP may be the optimal choice if the use of DNA technology must be avoided. If identification of carriers and equivocal diagnosis is considered an important disadvantage, IRT/PAP/DNA/sequencing may be the best choice.
Subject
Human
CH - Child Health
BSS - Behavioural and Societal Sciences
Healthy for Life
Health
Healthy Living
To reference this document use:
http://resolver.tudelft.nl/uuid:bf7264e7-7852-42a3-99bb-a0a5d525abf4
DOI
https://doi.org/10.1136/thoraxjnl-2011-200730
TNO identifier
447343
ISSN
0040-6376
Source
Thorax, 67 (4), 289-295
Document type
article