Comparison of different IRT-PAP protocols to screen newborns for cystic fibrosis in three central European populations
Language English Country Netherlands Media print-electronic
Document type Comparative Study, Journal Article, Multicenter Study, Research Support, Non-U.S. Gov't
PubMed
23891278
DOI
10.1016/j.jcf.2013.06.003
PII: S1569-1993(13)00108-2
Knihovny.cz E-resources
- Keywords
- Biochemical screening, CF, CFNBS, Cystic fibrosis, DBS, FS, IRT, Immunoreactive trypsinogen, MI, NBS, Newborn screening, PAP, PI, PS, Pancreatitis associated protein, cystic fibrosis, cystic fibrosis newborn screening, dried blot spot, failsafe strategy, immunoreactive trypsinogen, meconium ileus, newborn screening, pancreatic insufficient, pancreatic sufficient, pancreatitis associated protein,
- MeSH
- Antigens, Neoplasm analysis blood genetics MeSH
- Cystic Fibrosis blood diagnosis genetics MeSH
- Genetic Testing methods standards MeSH
- Chemistry, Clinical methods standards MeSH
- Lectins, C-Type analysis blood genetics MeSH
- Humans MeSH
- Biomarkers, Tumor analysis blood genetics MeSH
- Infant, Newborn MeSH
- Neonatal Screening methods standards MeSH
- Prospective Studies MeSH
- Cystic Fibrosis Transmembrane Conductance Regulator genetics MeSH
- Pancreatitis-Associated Proteins MeSH
- Retrospective Studies MeSH
- Sensitivity and Specificity MeSH
- Dried Blood Spot Testing methods standards MeSH
- Trypsinogen analysis blood genetics MeSH
- Check Tag
- Humans MeSH
- Infant, Newborn MeSH
- Publication type
- Journal Article MeSH
- Multicenter Study MeSH
- Research Support, Non-U.S. Gov't MeSH
- Comparative Study MeSH
- Geographicals
- Europe MeSH
- Names of Substances
- Antigens, Neoplasm MeSH
- CFTR protein, human MeSH Browser
- Lectins, C-Type MeSH
- Biomarkers, Tumor MeSH
- Cystic Fibrosis Transmembrane Conductance Regulator MeSH
- Pancreatitis-Associated Proteins MeSH
- REG3A protein, human MeSH Browser
- Trypsinogen MeSH
BACKGROUND: In recent years different IRT/PAP protocols have been evaluated, but the individual performance remains unclear. To optimize the IRT/PAP strategy we compared protocols from three regional CF newborn screening centers (Heidelberg, Dresden, and Prague). METHODS: We evaluated the effect of elevating the IRT-cut-off from 50 to 65 μg/l (~97.5th to ~99.0th percentile), the need of a failsafe protocol (FS, IRT ≥ 99.9th percentile) and the relative performance using either two IRT-dependent PAP-cut-offs or one PAP-cut-off. FINDINGS: Elevation of the IRT cut-off to 65 μg/l (~99.0th percentile) increased the PPV significantly (Dresden: 0.065 vs. 0.080, p < 0.0001, Prague: 0.052 vs. 0.074, p < 0.0001) without reducing sensitivity. All three IRT/PAP protocols showed a trend towards a higher sensitivity with FS than without and when using one PAP-cut-off instead of two IRT-dependent PAP-cut-offs. CONCLUSIONS: For best performance we suggest an IRT/PAP protocol with an IRT-cut-off close to the 99.0th percentile, FS, and a single PAP-cut-off.
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