Print Email Facebook Twitter Novel strategies in newborn screening for cystic fibrosis: A prospective controlled study 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 HumanCH - Child HealthBSS - Behavioural and Societal SciencesHealthy for LifeHealthHealthy 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 Files To receive the publication files, please send an e-mail request to TNO Library.