One-Year Evaluation of a Neonatal Screening Program for Cystic Fibrosis in Switzerland

Rueegg, Corina S.; Kuehni, Claudia E.; Gallati, Sabina; Baumgartner, Matthias R.; Torresani, Toni; Barben, Juerg

doi:10.3238/arztebl.2013.0356

Cited by 24 publications

(41 citation statements)

References 21 publications

(33 reference statements)

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“…In Switzerland, CF‐NBS was introduced in 2011 . With the implementation of the programme, the Swiss Federal Office of Public Health requested a close evaluation of the programme including the use and comparison of two different sweat test systems (Macroduct™ collection system with chloride measurement and Nanoduct™ analysis system) for the diagnostic evaluation in newborns with a positive CF‐NBS result.…”

Section: Introductionmentioning

confidence: 99%

Comparison of two sweat test systems for the diagnosis of cystic fibrosis in newborns

Rueegg

Kuehni

Gallati

et al. 2019

Pediatric Pulmonology

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Objectives In the national newborn screening programme for CF in Switzerland, we compared the performance of two sweat test methods, by investigating the feasibility and diagnostic performance of the Macroduct® collection method (with chloride mesurement) and Nanoduct® test (measuring conductivity) for diagnosing CF. Study‐Design We included all newborns with a positive screening result between 2011 and 2015 who were referred to a CF‐centre for sweat testing. In the CF‐centre, a Macroduct and Nanoduct sweat test were performed simultaneously. If sweat test results were positive or borderline, a DNA analysis was performed. Final diagnosis was based on genetic mutations. Results Over 5 years, 445 children were screened positive and in 413 (114 with CF) at least one sweat test was performed (median age at first test, 22 days); both tests were performed in 371 children. A sweat test result was more often available with the Nanoduct compared to the Macroduct (79 vs 60%, P < 0.001). The Nanoduct was equally sensitive as the Macroduct in identifying newborns with CF (sensitivity 98 vs 99%) but less specific (specificity 79 vs 93%; P‐value comparing ROC curves = 0.033). Conclusions This national multicentre study revealed high failure rates for Macroduct and Nanoduct in newborns in real life practice. While this needs to be addressed, our results suggested that performing the Nanoduct in addition to the Macroduct might speed up the diagnostic process because it more often yields valid results with comparable diagnostic performance. The addition of the Nanoduct sweat test can therefore help to reduce the stressful time of uncertainty for parents and to start appropriate treatment earlier.

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Section: Introductionmentioning

confidence: 99%

Comparison of two sweat test systems for the diagnosis of cystic fibrosis in newborns

Rueegg

Kuehni

Gallati

et al. 2019

Pediatric Pulmonology

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“…El diagnóstico Gold Standard basa principalmente en la medición de electrolitos en sudor mediante una prueba induciendo el sudor con pilocarpina, el test del sudor, sin embargo, ha mostrado ser más útil principalmente en tami-zaje, por lo que se ha planteado su reemplazo por el test de conductancia del sudor 14 . Otros métodos diagnósticos incluyen prueba de diferencia de potencial eléctrico nasal y medición de concentraciones de tripsinógeno en sangre entre otros 15 . Estudios más específicos involucran el diagnóstico molecular, especialmente en recién nacidos y niños pequeños con sospecha alta de fibrosis quística 16 .…”

Section: Discussionunclassified

Variabilidad fenotípica de la fibrosis quística: reporte de 2 gemelos con la mutación F508/F508

Hernández-Amaris

Gómez-Vásquez²,

2014

Rev. chil. pediatr.

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“…The parents must contact the center themselves. Simultaneous information to the ordering physician and to a specialized center near the patient's residence, direct information to the parents with an invitation to them to come to the center, and compulsory tracking by the screening laboratories are components of an approach that has been found to be successful in Switzerland and elsewhere (11). These measures were not, however, implemented in Germany, for a number of reasons including the absence of acute mortal danger, the need to maintain the confidentiality of medical data, and the right to choose one's physician freely.…”

Section: Clinical Signsmentioning

confidence: 99%

Cystic Fibrosis

Naehrig¹,

Chao²,

Naehrlich³

2017

Deutsches Ärzteblatt International

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One-Year Evaluation of a Neonatal Screening Program for Cystic Fibrosis in Switzerland

Abstract: The suggested procedure for CF-NBS has been found effective in practice; there were no major problems with its implementation. It reached high acceptance among physicians and parents.

Cited by 24 publications

References 21 publications

Comparison of two sweat test systems for the diagnosis of cystic fibrosis in newborns

Comparison of two sweat test systems for the diagnosis of cystic fibrosis in newborns

Variabilidad fenotípica de la fibrosis quística: reporte de 2 gemelos con la mutación F508/F508

Cystic Fibrosis

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