Prospective and parallel assessments of cystic fibrosis newborn screening protocols in the Czech Republic: IRT/DNA/IRT versus IRT/PAP and IRT/PAP/DNA
Jazyk angličtina Země Německo Médium print-electronic
Typ dokumentu klinické zkoušky, srovnávací studie, časopisecké články, práce podpořená grantem
- 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
- proteiny asociované s pankreatitidou 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
- Názvy látek
- antigeny nádorové MeSH
- biologické markery MeSH
- CFTR protein, human MeSH Prohlížeč
- genetické markery MeSH
- lektiny typu C MeSH
- nádorové biomarkery MeSH
- protein CFTR MeSH
- proteiny asociované s pankreatitidou MeSH
- REG3A protein, human MeSH Prohlížeč
- trypsinogen MeSH
UNLABELLED: 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.
Zobrazit více v PubMed
J Cyst Fibros. 2009 May;8(3):153-73 PubMed
J Med Genet. 2009 Nov;46(11):752-8 PubMed
J Cyst Fibros. 2009 May;8(3):224-7 PubMed
J Pediatr. 2007 Jul;151(1):85-9 PubMed
Pediatrics. 2001 Jan;107(1):1-13 PubMed
J Inherit Metab Dis. 2010 Oct;33(Suppl 2):S263-71 PubMed
J Pediatr. 2006 Nov;149(5):650-657 PubMed
Pediatrics. 2004 Jun;113(6):1573-81 PubMed
Pediatrics. 2007 Feb;119(2):e495-518 PubMed
Arch Dis Child Fetal Neonatal Ed. 1999 Mar;80(2):F118-22 PubMed
Pediatrics. 2007 Jan;119(1):19-28 PubMed
Am J Epidemiol. 2004 Mar 15;159(6):537-46 PubMed
J Pediatr. 2008 Jan;152(1):25-32 PubMed
Clin Chim Acta. 1981 Jun 18;113(2):111-21 PubMed
J Pediatr. 2005 Sep;147(3):302-5 PubMed
J Cyst Fibros. 2008 May;7(3):179-96 PubMed
Hum Mutat. 2002 Jun;19(6):575-606 PubMed
Thorax. 2012 Apr;67(4):289-95 PubMed
J Med Genet. 1972 Mar;9(1):33-7 PubMed
J Pediatr. 2008 Sep;153(3):308-13 PubMed
J Cyst Fibros. 2011 Jul;10(4):278-81 PubMed
J Pediatr. 2008 Aug;153(2):S4-S14 PubMed
J Cyst Fibros. 2009 Jan;8(1):71-8 PubMed
