Comparison of different IRT-PAP protocols to screen newborns for cystic fibrosis in three central European populations
Jazyk angličtina Země Nizozemsko Médium print-electronic
Typ dokumentu srovnávací studie, časopisecké články, multicentrická studie, práce podpořená grantem
PubMed
23891278
DOI
10.1016/j.jcf.2013.06.003
PII: S1569-1993(13)00108-2
Knihovny.cz E-zdroje
- Klíčová slova
- 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
- antigeny nádorové analýza krev genetika MeSH
- cystická fibróza krev diagnóza genetika MeSH
- genetické testování metody normy MeSH
- klinická chemie metody normy MeSH
- lektiny typu C analýza krev genetika MeSH
- lidé MeSH
- nádorové biomarkery analýza krev genetika MeSH
- novorozenec MeSH
- novorozenecký screening metody normy MeSH
- prospektivní studie MeSH
- protein CFTR genetika MeSH
- proteiny asociované s pankreatitidou MeSH
- retrospektivní studie MeSH
- senzitivita a specificita MeSH
- test suché kapky krve metody normy MeSH
- trypsinogen analýza krev genetika MeSH
- Check Tag
- lidé MeSH
- novorozenec MeSH
- Publikační typ
- časopisecké články MeSH
- multicentrická studie MeSH
- práce podpořená grantem MeSH
- srovnávací studie MeSH
- Geografické názvy
- Evropa MeSH
- Názvy látek
- antigeny nádorové MeSH
- CFTR protein, human MeSH Prohlížeč
- lektiny typu C MeSH
- nádorové biomarkery MeSH
- protein CFTR MeSH
- proteiny asociované s pankreatitidou MeSH
- REG3A protein, human MeSH Prohlížeč
- 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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