Prospective and parallel assessments of cystic fibrosis newborn screening protocols in the Czech Republic: IRT/DNA/IRT versus IRT/PAP and IRT/PAP/DNA
Abstract 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-asso...
Ausführliche Beschreibung
Gespeichert in:
| Autor*in: |
Krulišová, Veronika [verfasserIn] Balaščaková, Miroslava [verfasserIn] Skalická, Veronika [verfasserIn] Piskáčková, Tereza [verfasserIn] Holubová, Andrea [verfasserIn] Paděrová, Jana [verfasserIn] Křenková, Petra [verfasserIn] Dvořáková, Lenka [verfasserIn] Zemková, Dana [verfasserIn] Kračmar, Petr [verfasserIn] Chovancová, Blanka [verfasserIn] Vávrová, Věra [verfasserIn] Štambergová, Alexandra [verfasserIn] Votava, Felix [verfasserIn] Macek, Milan [verfasserIn] |
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| Format: |
E-Artikel |
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| Sprache: |
Englisch |
| Erschienen: |
2012 |
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| Schlagwörter: |
Cystic fibrosis transmembrane conductance regulator gene |
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| Übergeordnetes Werk: |
Enthalten in: European journal of pediatrics - Berlin : Springer Science & Business Media B.V., 1975, 171(2012), 8 vom: 12. Mai, Seite 1223-1229 |
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| Übergeordnetes Werk: |
volume:171 ; year:2012 ; number:8 ; day:12 ; month:05 ; pages:1223-1229 |
| Links: |
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| DOI / URN: |
10.1007/s00431-012-1747-z |
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| Katalog-ID: |
SPR005794064 |
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| 100 | 1 | |a Krulišová, Veronika |e verfasserin |4 aut | |
| 245 | 1 | 0 | |a Prospective and parallel assessments of cystic fibrosis newborn screening protocols in the Czech Republic: IRT/DNA/IRT versus IRT/PAP and IRT/PAP/DNA |
| 264 | 1 | |c 2012 | |
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| 337 | |a Computermedien |b c |2 rdamedia | ||
| 338 | |a Online-Ressource |b cr |2 rdacarrier | ||
| 520 | |a Abstract 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. | ||
| 650 | 4 | |a Newborn screening |7 (dpeaa)DE-He213 | |
| 650 | 4 | |a Cystic fibrosis (MIM 219700) |7 (dpeaa)DE-He213 | |
| 650 | 4 | |a Cystic fibrosis transmembrane conductance regulator gene |7 (dpeaa)DE-He213 | |
| 650 | 4 | |a Immunoreactive trypsinogen |7 (dpeaa)DE-He213 | |
| 650 | 4 | |a Pancreatitis-associated protein |7 (dpeaa)DE-He213 | |
| 650 | 4 | |a Sweat test |7 (dpeaa)DE-He213 | |
| 700 | 1 | |a Balaščaková, Miroslava |e verfasserin |4 aut | |
| 700 | 1 | |a Skalická, Veronika |e verfasserin |4 aut | |
| 700 | 1 | |a Piskáčková, Tereza |e verfasserin |4 aut | |
| 700 | 1 | |a Holubová, Andrea |e verfasserin |4 aut | |
| 700 | 1 | |a Paděrová, Jana |e verfasserin |4 aut | |
| 700 | 1 | |a Křenková, Petra |e verfasserin |4 aut | |
| 700 | 1 | |a Dvořáková, Lenka |e verfasserin |4 aut | |
| 700 | 1 | |a Zemková, Dana |e verfasserin |4 aut | |
| 700 | 1 | |a Kračmar, Petr |e verfasserin |4 aut | |
| 700 | 1 | |a Chovancová, Blanka |e verfasserin |4 aut | |
| 700 | 1 | |a Vávrová, Věra |e verfasserin |4 aut | |
| 700 | 1 | |a Štambergová, Alexandra |e verfasserin |4 aut | |
| 700 | 1 | |a Votava, Felix |e verfasserin |4 aut | |
| 700 | 1 | |a Macek, Milan |e verfasserin |4 aut | |
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| 773 | 1 | 8 | |g volume:171 |g year:2012 |g number:8 |g day:12 |g month:05 |g pages:1223-1229 |
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10.1007/s00431-012-1747-z doi (DE-627)SPR005794064 (SPR)s00431-012-1747-z-e DE-627 ger DE-627 rakwb eng 610 ASE 44.67 bkl Krulišová, Veronika verfasserin aut Prospective and parallel assessments of cystic fibrosis newborn screening protocols in the Czech Republic: IRT/DNA/IRT versus IRT/PAP and IRT/PAP/DNA 2012 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract 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. Newborn screening (dpeaa)DE-He213 Cystic fibrosis (MIM 219700) (dpeaa)DE-He213 Cystic fibrosis transmembrane conductance regulator gene (dpeaa)DE-He213 Immunoreactive trypsinogen (dpeaa)DE-He213 Pancreatitis-associated protein (dpeaa)DE-He213 Sweat test (dpeaa)DE-He213 Balaščaková, Miroslava verfasserin aut Skalická, Veronika verfasserin aut Piskáčková, Tereza verfasserin aut Holubová, Andrea verfasserin aut Paděrová, Jana verfasserin aut Křenková, Petra verfasserin aut Dvořáková, Lenka verfasserin aut Zemková, Dana verfasserin aut Kračmar, Petr verfasserin aut Chovancová, Blanka verfasserin aut Vávrová, Věra verfasserin aut Štambergová, Alexandra verfasserin aut Votava, Felix verfasserin aut Macek, Milan verfasserin aut Enthalten in European journal of pediatrics Berlin : Springer Science & Business Media B.V., 1975 171(2012), 8 vom: 12. Mai, Seite 1223-1229 (DE-627)684135361 (DE-600)2647723-3 1432-1076 nnns volume:171 year:2012 number:8 day:12 month:05 pages:1223-1229 https://dx.doi.org/10.1007/s00431-012-1747-z lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_120 GBV_ILN_138 GBV_ILN_150 GBV_ILN_151 GBV_ILN_152 GBV_ILN_161 GBV_ILN_170 GBV_ILN_171 GBV_ILN_187 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_250 GBV_ILN_281 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_636 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2031 GBV_ILN_2034 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2039 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2070 GBV_ILN_2086 GBV_ILN_2088 GBV_ILN_2093 GBV_ILN_2106 GBV_ILN_2107 GBV_ILN_2108 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2116 GBV_ILN_2118 GBV_ILN_2119 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2188 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2446 GBV_ILN_2470 GBV_ILN_2472 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_2548 GBV_ILN_4012 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4246 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4328 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4393 GBV_ILN_4700 44.67 ASE AR 171 2012 8 12 05 1223-1229 |
| spelling |
10.1007/s00431-012-1747-z doi (DE-627)SPR005794064 (SPR)s00431-012-1747-z-e DE-627 ger DE-627 rakwb eng 610 ASE 44.67 bkl Krulišová, Veronika verfasserin aut Prospective and parallel assessments of cystic fibrosis newborn screening protocols in the Czech Republic: IRT/DNA/IRT versus IRT/PAP and IRT/PAP/DNA 2012 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract 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. Newborn screening (dpeaa)DE-He213 Cystic fibrosis (MIM 219700) (dpeaa)DE-He213 Cystic fibrosis transmembrane conductance regulator gene (dpeaa)DE-He213 Immunoreactive trypsinogen (dpeaa)DE-He213 Pancreatitis-associated protein (dpeaa)DE-He213 Sweat test (dpeaa)DE-He213 Balaščaková, Miroslava verfasserin aut Skalická, Veronika verfasserin aut Piskáčková, Tereza verfasserin aut Holubová, Andrea verfasserin aut Paděrová, Jana verfasserin aut Křenková, Petra verfasserin aut Dvořáková, Lenka verfasserin aut Zemková, Dana verfasserin aut Kračmar, Petr verfasserin aut Chovancová, Blanka verfasserin aut Vávrová, Věra verfasserin aut Štambergová, Alexandra verfasserin aut Votava, Felix verfasserin aut Macek, Milan verfasserin aut Enthalten in European journal of pediatrics Berlin : Springer Science & Business Media B.V., 1975 171(2012), 8 vom: 12. Mai, Seite 1223-1229 (DE-627)684135361 (DE-600)2647723-3 1432-1076 nnns volume:171 year:2012 number:8 day:12 month:05 pages:1223-1229 https://dx.doi.org/10.1007/s00431-012-1747-z lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_120 GBV_ILN_138 GBV_ILN_150 GBV_ILN_151 GBV_ILN_152 GBV_ILN_161 GBV_ILN_170 GBV_ILN_171 GBV_ILN_187 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_250 GBV_ILN_281 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_636 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2031 GBV_ILN_2034 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2039 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2070 GBV_ILN_2086 GBV_ILN_2088 GBV_ILN_2093 GBV_ILN_2106 GBV_ILN_2107 GBV_ILN_2108 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2116 GBV_ILN_2118 GBV_ILN_2119 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2188 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2446 GBV_ILN_2470 GBV_ILN_2472 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_2548 GBV_ILN_4012 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4246 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4328 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4393 GBV_ILN_4700 44.67 ASE AR 171 2012 8 12 05 1223-1229 |
| allfields_unstemmed |
10.1007/s00431-012-1747-z doi (DE-627)SPR005794064 (SPR)s00431-012-1747-z-e DE-627 ger DE-627 rakwb eng 610 ASE 44.67 bkl Krulišová, Veronika verfasserin aut Prospective and parallel assessments of cystic fibrosis newborn screening protocols in the Czech Republic: IRT/DNA/IRT versus IRT/PAP and IRT/PAP/DNA 2012 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract 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. Newborn screening (dpeaa)DE-He213 Cystic fibrosis (MIM 219700) (dpeaa)DE-He213 Cystic fibrosis transmembrane conductance regulator gene (dpeaa)DE-He213 Immunoreactive trypsinogen (dpeaa)DE-He213 Pancreatitis-associated protein (dpeaa)DE-He213 Sweat test (dpeaa)DE-He213 Balaščaková, Miroslava verfasserin aut Skalická, Veronika verfasserin aut Piskáčková, Tereza verfasserin aut Holubová, Andrea verfasserin aut Paděrová, Jana verfasserin aut Křenková, Petra verfasserin aut Dvořáková, Lenka verfasserin aut Zemková, Dana verfasserin aut Kračmar, Petr verfasserin aut Chovancová, Blanka verfasserin aut Vávrová, Věra verfasserin aut Štambergová, Alexandra verfasserin aut Votava, Felix verfasserin aut Macek, Milan verfasserin aut Enthalten in European journal of pediatrics Berlin : Springer Science & Business Media B.V., 1975 171(2012), 8 vom: 12. Mai, Seite 1223-1229 (DE-627)684135361 (DE-600)2647723-3 1432-1076 nnns volume:171 year:2012 number:8 day:12 month:05 pages:1223-1229 https://dx.doi.org/10.1007/s00431-012-1747-z lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_120 GBV_ILN_138 GBV_ILN_150 GBV_ILN_151 GBV_ILN_152 GBV_ILN_161 GBV_ILN_170 GBV_ILN_171 GBV_ILN_187 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_250 GBV_ILN_281 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_636 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2031 GBV_ILN_2034 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2039 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2070 GBV_ILN_2086 GBV_ILN_2088 GBV_ILN_2093 GBV_ILN_2106 GBV_ILN_2107 GBV_ILN_2108 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2116 GBV_ILN_2118 GBV_ILN_2119 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2188 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2446 GBV_ILN_2470 GBV_ILN_2472 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_2548 GBV_ILN_4012 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4246 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4328 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4393 GBV_ILN_4700 44.67 ASE AR 171 2012 8 12 05 1223-1229 |
| allfieldsGer |
10.1007/s00431-012-1747-z doi (DE-627)SPR005794064 (SPR)s00431-012-1747-z-e DE-627 ger DE-627 rakwb eng 610 ASE 44.67 bkl Krulišová, Veronika verfasserin aut Prospective and parallel assessments of cystic fibrosis newborn screening protocols in the Czech Republic: IRT/DNA/IRT versus IRT/PAP and IRT/PAP/DNA 2012 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract 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. Newborn screening (dpeaa)DE-He213 Cystic fibrosis (MIM 219700) (dpeaa)DE-He213 Cystic fibrosis transmembrane conductance regulator gene (dpeaa)DE-He213 Immunoreactive trypsinogen (dpeaa)DE-He213 Pancreatitis-associated protein (dpeaa)DE-He213 Sweat test (dpeaa)DE-He213 Balaščaková, Miroslava verfasserin aut Skalická, Veronika verfasserin aut Piskáčková, Tereza verfasserin aut Holubová, Andrea verfasserin aut Paděrová, Jana verfasserin aut Křenková, Petra verfasserin aut Dvořáková, Lenka verfasserin aut Zemková, Dana verfasserin aut Kračmar, Petr verfasserin aut Chovancová, Blanka verfasserin aut Vávrová, Věra verfasserin aut Štambergová, Alexandra verfasserin aut Votava, Felix verfasserin aut Macek, Milan verfasserin aut Enthalten in European journal of pediatrics Berlin : Springer Science & Business Media B.V., 1975 171(2012), 8 vom: 12. Mai, Seite 1223-1229 (DE-627)684135361 (DE-600)2647723-3 1432-1076 nnns volume:171 year:2012 number:8 day:12 month:05 pages:1223-1229 https://dx.doi.org/10.1007/s00431-012-1747-z lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_120 GBV_ILN_138 GBV_ILN_150 GBV_ILN_151 GBV_ILN_152 GBV_ILN_161 GBV_ILN_170 GBV_ILN_171 GBV_ILN_187 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_250 GBV_ILN_281 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_636 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2031 GBV_ILN_2034 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2039 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2070 GBV_ILN_2086 GBV_ILN_2088 GBV_ILN_2093 GBV_ILN_2106 GBV_ILN_2107 GBV_ILN_2108 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2116 GBV_ILN_2118 GBV_ILN_2119 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2188 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2446 GBV_ILN_2470 GBV_ILN_2472 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_2548 GBV_ILN_4012 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4246 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4328 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4393 GBV_ILN_4700 44.67 ASE AR 171 2012 8 12 05 1223-1229 |
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10.1007/s00431-012-1747-z doi (DE-627)SPR005794064 (SPR)s00431-012-1747-z-e DE-627 ger DE-627 rakwb eng 610 ASE 44.67 bkl Krulišová, Veronika verfasserin aut Prospective and parallel assessments of cystic fibrosis newborn screening protocols in the Czech Republic: IRT/DNA/IRT versus IRT/PAP and IRT/PAP/DNA 2012 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract 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. Newborn screening (dpeaa)DE-He213 Cystic fibrosis (MIM 219700) (dpeaa)DE-He213 Cystic fibrosis transmembrane conductance regulator gene (dpeaa)DE-He213 Immunoreactive trypsinogen (dpeaa)DE-He213 Pancreatitis-associated protein (dpeaa)DE-He213 Sweat test (dpeaa)DE-He213 Balaščaková, Miroslava verfasserin aut Skalická, Veronika verfasserin aut Piskáčková, Tereza verfasserin aut Holubová, Andrea verfasserin aut Paděrová, Jana verfasserin aut Křenková, Petra verfasserin aut Dvořáková, Lenka verfasserin aut Zemková, Dana verfasserin aut Kračmar, Petr verfasserin aut Chovancová, Blanka verfasserin aut Vávrová, Věra verfasserin aut Štambergová, Alexandra verfasserin aut Votava, Felix verfasserin aut Macek, Milan verfasserin aut Enthalten in European journal of pediatrics Berlin : Springer Science & Business Media B.V., 1975 171(2012), 8 vom: 12. Mai, Seite 1223-1229 (DE-627)684135361 (DE-600)2647723-3 1432-1076 nnns volume:171 year:2012 number:8 day:12 month:05 pages:1223-1229 https://dx.doi.org/10.1007/s00431-012-1747-z lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_120 GBV_ILN_138 GBV_ILN_150 GBV_ILN_151 GBV_ILN_152 GBV_ILN_161 GBV_ILN_170 GBV_ILN_171 GBV_ILN_187 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_250 GBV_ILN_281 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_636 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2031 GBV_ILN_2034 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2039 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2070 GBV_ILN_2086 GBV_ILN_2088 GBV_ILN_2093 GBV_ILN_2106 GBV_ILN_2107 GBV_ILN_2108 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2116 GBV_ILN_2118 GBV_ILN_2119 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2188 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2446 GBV_ILN_2470 GBV_ILN_2472 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_2548 GBV_ILN_4012 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4246 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4328 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4393 GBV_ILN_4700 44.67 ASE AR 171 2012 8 12 05 1223-1229 |
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Enthalten in European journal of pediatrics 171(2012), 8 vom: 12. Mai, Seite 1223-1229 volume:171 year:2012 number:8 day:12 month:05 pages:1223-1229 |
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Enthalten in European journal of pediatrics 171(2012), 8 vom: 12. Mai, Seite 1223-1229 volume:171 year:2012 number:8 day:12 month:05 pages:1223-1229 |
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findex.gbv.de |
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Newborn screening Cystic fibrosis (MIM 219700) Cystic fibrosis transmembrane conductance regulator gene Immunoreactive trypsinogen Pancreatitis-associated protein Sweat test |
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European journal of pediatrics |
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Krulišová, Veronika @@aut@@ Balaščaková, Miroslava @@aut@@ Skalická, Veronika @@aut@@ Piskáčková, Tereza @@aut@@ Holubová, Andrea @@aut@@ Paděrová, Jana @@aut@@ Křenková, Petra @@aut@@ Dvořáková, Lenka @@aut@@ Zemková, Dana @@aut@@ Kračmar, Petr @@aut@@ Chovancová, Blanka @@aut@@ Vávrová, Věra @@aut@@ Štambergová, Alexandra @@aut@@ Votava, Felix @@aut@@ Macek, Milan @@aut@@ |
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2012-05-12T00:00:00Z |
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|
| author |
Krulišová, Veronika |
| spellingShingle |
Krulišová, Veronika ddc 610 bkl 44.67 misc Newborn screening misc Cystic fibrosis (MIM 219700) misc Cystic fibrosis transmembrane conductance regulator gene misc Immunoreactive trypsinogen misc Pancreatitis-associated protein misc Sweat test Prospective and parallel assessments of cystic fibrosis newborn screening protocols in the Czech Republic: IRT/DNA/IRT versus IRT/PAP and IRT/PAP/DNA |
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1432-1076 |
| topic_title |
610 ASE 44.67 bkl Prospective and parallel assessments of cystic fibrosis newborn screening protocols in the Czech Republic: IRT/DNA/IRT versus IRT/PAP and IRT/PAP/DNA Newborn screening (dpeaa)DE-He213 Cystic fibrosis (MIM 219700) (dpeaa)DE-He213 Cystic fibrosis transmembrane conductance regulator gene (dpeaa)DE-He213 Immunoreactive trypsinogen (dpeaa)DE-He213 Pancreatitis-associated protein (dpeaa)DE-He213 Sweat test (dpeaa)DE-He213 |
| topic |
ddc 610 bkl 44.67 misc Newborn screening misc Cystic fibrosis (MIM 219700) misc Cystic fibrosis transmembrane conductance regulator gene misc Immunoreactive trypsinogen misc Pancreatitis-associated protein misc Sweat test |
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ddc 610 bkl 44.67 misc Newborn screening misc Cystic fibrosis (MIM 219700) misc Cystic fibrosis transmembrane conductance regulator gene misc Immunoreactive trypsinogen misc Pancreatitis-associated protein misc Sweat test |
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ddc 610 bkl 44.67 misc Newborn screening misc Cystic fibrosis (MIM 219700) misc Cystic fibrosis transmembrane conductance regulator gene misc Immunoreactive trypsinogen misc Pancreatitis-associated protein misc Sweat test |
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European journal of pediatrics |
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European journal of pediatrics |
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Prospective and parallel assessments of cystic fibrosis newborn screening protocols in the Czech Republic: IRT/DNA/IRT versus IRT/PAP and IRT/PAP/DNA |
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(DE-627)SPR005794064 (SPR)s00431-012-1747-z-e |
| title_full |
Prospective and parallel assessments of cystic fibrosis newborn screening protocols in the Czech Republic: IRT/DNA/IRT versus IRT/PAP and IRT/PAP/DNA |
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Krulišová, Veronika |
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European journal of pediatrics |
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European journal of pediatrics |
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eng |
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600 - Technology |
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Krulišová, Veronika Balaščaková, Miroslava Skalická, Veronika Piskáčková, Tereza Holubová, Andrea Paděrová, Jana Křenková, Petra Dvořáková, Lenka Zemková, Dana Kračmar, Petr Chovancová, Blanka Vávrová, Věra Štambergová, Alexandra Votava, Felix Macek, Milan |
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610 ASE 44.67 bkl |
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Elektronische Aufsätze |
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Krulišová, Veronika |
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10.1007/s00431-012-1747-z |
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610 |
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verfasserin |
| title_sort |
prospective and parallel assessments of cystic fibrosis newborn screening protocols in the czech republic: irt/dna/irt versus irt/pap and irt/pap/dna |
| title_auth |
Prospective and parallel assessments of cystic fibrosis newborn screening protocols in the Czech Republic: IRT/DNA/IRT versus IRT/PAP and IRT/PAP/DNA |
| abstract |
Abstract 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. |
| abstractGer |
Abstract 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. |
| abstract_unstemmed |
Abstract 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. |
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Prospective and parallel assessments of cystic fibrosis newborn screening protocols in the Czech Republic: IRT/DNA/IRT versus IRT/PAP and IRT/PAP/DNA |
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https://dx.doi.org/10.1007/s00431-012-1747-z |
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Balaščaková, Miroslava Skalická, Veronika Piskáčková, Tereza Holubová, Andrea Paděrová, Jana Křenková, Petra Dvořáková, Lenka Zemková, Dana Kračmar, Petr Chovancová, Blanka Vávrová, Věra Štambergová, Alexandra Votava, Felix Macek, Milan |
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Balaščaková, Miroslava Skalická, Veronika Piskáčková, Tereza Holubová, Andrea Paděrová, Jana Křenková, Petra Dvořáková, Lenka Zemková, Dana Kračmar, Petr Chovancová, Blanka Vávrová, Věra Štambergová, Alexandra Votava, Felix Macek, Milan |
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10.1007/s00431-012-1747-z |
| up_date |
2024-07-03T18:44:21.334Z |
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| score |
7.3996143 |