- MeSH
- alfa-amylasy krev MeSH
- diabetes mellitus 2. typu * farmakoterapie komplikace MeSH
- dospělí MeSH
- dvojitá slepá metoda MeSH
- hypoglykemika aplikace a dávkování terapeutické užití MeSH
- lidé středního věku MeSH
- lidé MeSH
- lipasa krev MeSH
- liraglutid * aplikace a dávkování terapeutické užití MeSH
- metformin aplikace a dávkování terapeutické užití MeSH
- nadváha komplikace MeSH
- pankreas * metabolismus účinky léků MeSH
- randomizované kontrolované studie jako téma MeSH
- receptor pro glukagonu podobný peptid 1 agonisté metabolismus MeSH
- senioři MeSH
- sitagliptin fosfát * aplikace a dávkování terapeutické užití MeSH
- trypsinogen krev moč MeSH
- Check Tag
- dospělí MeSH
- lidé středního věku MeSH
- lidé MeSH
- mužské pohlaví MeSH
- senioři MeSH
- ženské pohlaví 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.
- 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
- 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
Cystic fibrosis (CF) is a life-threatening disease for which early diagnosis following newborn screening (NBS) improves the prognosis. We performed a prospective assessment of the immunoreactive trypsinogen (IRT)/DNA/IRT protocol currently in use nationwide, versus the IRT/pancreatitis-associated protein (PAP) and IRT/PAP/DNA CF NBS protocols. Dried blood spots (DBS) from 106,522 Czech newborns were examined for IRT concentrations. In the IRT/DNA/IRT protocol, DNA-testing was performed for IRT ≥ 65 ng/mL. Newborns with IRT ≥ 200 ng/mL and no detected cystic fibrosis transmembrane conductance regulator gene (CFTR) mutations were recalled for a repeat IRT. In the same group of newborns, for both parallel protocols, PAP was measured in DBS with IRT ≥ 50 ng/mL. In PAP-positive newborns (i.e., ≥1.8 if IRT 50-99.9 or ≥1.0 if IRT ≥ 100, all in ng/mL), DNA-testing followed as part of the IRT/PAP/DNA protocol. Newborns with at least one CFTR mutation in the IRT/DNA/IRT and IRT/PAP/DNA protocols; a positive PAP in IRT/PAP; or a high repeat IRT in IRT/DNA/IRT were referred for sweat testing. CONCLUSION: the combined results of the utilized protocols led to the detection of 21 CF patients, 19 of which were identified using the IRT/DNA/IRT protocol, 16 using IRT/PAP, and 15 using IRT/PAP/DNA. Decreased cut-offs for PAP within the IRT/PAP protocol would lead to higher sensitivity but would increase false positives. Within the IRT/PAP/DNA protocol, decreased PAP cut-offs would result in high sensitivity, an acceptable number of false positives, and would reduce the number of DNA analyses. Thus, we concluded that the IRT/PAP/DNA protocol would represent the most suitable protocol in our conditions.
- MeSH
- antigeny nádorové krev MeSH
- biologické markery krev MeSH
- cystická fibróza krev diagnóza genetika MeSH
- falešně negativní reakce MeSH
- falešně pozitivní reakce MeSH
- genetické markery MeSH
- klinické protokoly MeSH
- lektiny typu C krev MeSH
- lidé MeSH
- mutační analýza DNA MeSH
- nádorové biomarkery krev MeSH
- novorozenec MeSH
- novorozenecký screening metody MeSH
- pot chemie MeSH
- prospektivní studie MeSH
- protein CFTR genetika MeSH
- senzitivita a specificita MeSH
- test suché kapky krve MeSH
- trypsinogen krev MeSH
- Check Tag
- lidé MeSH
- novorozenec MeSH
- Publikační typ
- časopisecké články MeSH
- klinické zkoušky MeSH
- práce podpořená grantem MeSH
- srovnávací studie MeSH
- Geografické názvy
- Česká republika MeSH
