Prospective and parallel assessments of cystic fibrosis newborn screening protocols in the Czech Republic: IRT/DNA/IRT versus IRT/PAP and IRT/PAP/DNA
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064203%3A_____%2F12%3A8260" target="_blank" >RIV/00064203:_____/12:8260 - isvavai.cz</a>
Alternative codes found
RIV/00216208:11130/12:8260 RIV/00064173:_____/12:43902670 RIV/00216208:11120/12:43902670
Result on the web
<a href="http://dx.doi.org/10.1007/s00431-012-1747-z" target="_blank" >http://dx.doi.org/10.1007/s00431-012-1747-z</a>
DOI - Digital Object Identifier
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Alternative languages
Result language
angličtina
Original language name
Prospective and parallel assessments of cystic fibrosis newborn screening protocols in the Czech Republic: IRT/DNA/IRT versus IRT/PAP and IRT/PAP/DNA
Original language description
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 a parts per thousand yenaEuro parts per thousand 65 ng/mL. Newborns with IRT a parts per thousand yenaEuro parts per thousand 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 a parts per thousand yenaEuro parts per thousand 50 ng/mL. In PAP-positive newborns (i.e., a parts per thousand yen1.8 if IRT 50-99.9 or a parts per t
Czech name
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Czech description
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Classification
Type
J<sub>x</sub> - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)
CEP classification
FG - Paediatrics
OECD FORD branch
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Result continuities
Project
<a href="/en/project/NS9986" target="_blank" >NS9986: Optimalization of newborn screening of cystic fibrosis</a><br>
Continuities
P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)
Others
Publication year
2012
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
European Journal of Pediatrics
ISSN
0340-6199
e-ISSN
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Volume of the periodical
171
Issue of the periodical within the volume
8
Country of publishing house
DE - GERMANY
Number of pages
7
Pages from-to
1223-1229
UT code for WoS article
000306682100011
EID of the result in the Scopus database
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