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Retrospective analysis of stored dried blood spots from children with cystic fibrosis and matched controls to assess the performance of a proposed newborn screening protocol in Switzerland
- Source :
- Journal of Cystic Fibrosis. (4):332-336
- Publisher :
- European Cystic Fibrosis Society. Published by Elsevier B.V.
-
Abstract
- Background Newborn screening (NBS) for Cystic Fibrosis (CF) has been introduced in many countries, but there is no ideal protocol suitable for all countries. This retrospective study was conducted to evaluate whether the planned two step CF NBS with immunoreactive trypsinogen (IRT) and 7 CFTR mutations would have detected all clinically diagnosed children with CF in Switzerland. Methods IRT was measured using AutoDELFIA Neonatal IRT-Kit in stored NBS cards. Results Between 2006 and 2009, 66 children with CF were reported, 4 of which were excluded for various reasons (born in another country, NBS at 6months, no informed consent). 98% (61/62) had significantly higher IRT compared to matched control group. There was one false negative IRT result in an asymptomatic child with atypical CF (normal pancreatic function and sweat test). Conclusions All children but one with atypical CF would have been detected with the planned two step protocol.
- Subjects :
- Male
Pulmonary and Respiratory Medicine
Pediatrics
medicine.medical_specialty
Immunoreactive trypsinogen
Cystic Fibrosis Transmembrane Conductance Regulator
610 Medicine & health
behavioral disciplines and activities
Asymptomatic
Cystic fibrosis
Neonatal Screening
medicine
Retrospective analysis
Humans
2735 Pediatrics, Perinatology and Child Health
Pediatrics, Perinatology, and Child Health
Dried blood
Sweat test
Retrospective Studies
New born screening
Newborn screening
medicine.diagnostic_test
business.industry
Infant, Newborn
Infant
Reproducibility of Results
Retrospective cohort study
medicine.disease
10036 Medical Clinic
2740 Pulmonary and Respiratory Medicine
Child, Preschool
Pediatrics, Perinatology and Child Health
Trypsinogen
Female
Dried Blood Spot Testing
medicine.symptom
business
Algorithms
Switzerland
Subjects
Details
- Language :
- English
- ISSN :
- 15691993
- Issue :
- 4
- Database :
- OpenAIRE
- Journal :
- Journal of Cystic Fibrosis
- Accession number :
- edsair.doi.dedup.....21d65c064cf20b3e3ba4426c0252f363
- Full Text :
- https://doi.org/10.1016/j.jcf.2012.01.001