-
Je něco špatně v tomto záznamu ?
European survey of newborn bloodspot screening for CF: opportunity to address challenges and improve performance
A. Munck, DO. Berger, KW. Southern, C. Carducci, KM. de Winter-de Groot, S. Gartner, N. Kashirskaya, B. Linnane, M. Proesmans, D. Sands, O. Sommerburg, C. Castellani, J. Barben, European CF Society Neonatal Screening Working Group (ECFS NSWG)
Jazyk angličtina Země Nizozemsko
Typ dokumentu časopisecké články
- MeSH
- cystická fibróza * diagnóza genetika MeSH
- genetické testování * metody MeSH
- lidé MeSH
- novorozenec MeSH
- novorozenecký screening metody MeSH
- protein CFTR genetika MeSH
- trypsinogen MeSH
- Check Tag
- lidé MeSH
- novorozenec MeSH
- Publikační typ
- časopisecké články MeSH
BACKGROUND: The aim of this study was to record the current status of newborn bloodspot screening (NBS) for CF across Europe and assess performance. METHODS: Survey of representatives of NBS for CF programmes across Europe. Performance was assessed through a framework developed in a previous exercise. RESULTS: In 2022, we identified 22 national and 34 regional programmes in Europe. Barriers to establishing NBS included cost and political inertia. Performance was assessed from 2019 data reported by 21 national and 21 regional programmes. All programmes employed different protocols, with IRT-DNA the most common strategy. Six national and 11 regional programmes did not use DNA analysis. CONCLUSIONS: Integrating DNA analysis into the NBS protocol improves PPV, but at the expense of increased carrier and CFSPID recognition. Some programmes employ strategies to mitigate these outcomes. Programmes should constantly strive to improve performance but large datasets are needed to assess outcomes reliably.
Cystic Fibrosis Department Institute of Mother and Child Warsaw Poland
Department of Experimental Medicine Sapienza University Rome Italy
Department of Women's and Children's Health University of Liverpool United Kingdom
Division of Woman and Child Department of Pediatrics University Hospitals Leuven Leuven Belgium
IRCCS Istituto Giannina Gaslini Cystic Fibrosis Center Genoa Italy
Pediatric Pulmonology and Cystic Fibrosis Unit Hospital Universitari Vall d ́Hebron Barcelona Spain
Citace poskytuje Crossref.org
- 000
- 00000naa a2200000 a 4500
- 001
- bmc23011652
- 003
- CZ-PrNML
- 005
- 20230801133227.0
- 007
- ta
- 008
- 230718s2023 ne f 000 0|eng||
- 009
- AR
- 024 7_
- $a 10.1016/j.jcf.2022.09.012 $2 doi
- 035 __
- $a (PubMed)36372700
- 040 __
- $a ABA008 $b cze $d ABA008 $e AACR2
- 041 0_
- $a eng
- 044 __
- $a ne
- 100 1_
- $a Munck, Anne $u Hospital Necker Enfants-Malades, AP-HP, CF centre, Université Paris Descartes, France, and CF referent physician for the French Society of Newborn Screenings
- 245 10
- $a European survey of newborn bloodspot screening for CF: opportunity to address challenges and improve performance / $c A. Munck, DO. Berger, KW. Southern, C. Carducci, KM. de Winter-de Groot, S. Gartner, N. Kashirskaya, B. Linnane, M. Proesmans, D. Sands, O. Sommerburg, C. Castellani, J. Barben, European CF Society Neonatal Screening Working Group (ECFS NSWG)
- 520 9_
- $a BACKGROUND: The aim of this study was to record the current status of newborn bloodspot screening (NBS) for CF across Europe and assess performance. METHODS: Survey of representatives of NBS for CF programmes across Europe. Performance was assessed through a framework developed in a previous exercise. RESULTS: In 2022, we identified 22 national and 34 regional programmes in Europe. Barriers to establishing NBS included cost and political inertia. Performance was assessed from 2019 data reported by 21 national and 21 regional programmes. All programmes employed different protocols, with IRT-DNA the most common strategy. Six national and 11 regional programmes did not use DNA analysis. CONCLUSIONS: Integrating DNA analysis into the NBS protocol improves PPV, but at the expense of increased carrier and CFSPID recognition. Some programmes employ strategies to mitigate these outcomes. Programmes should constantly strive to improve performance but large datasets are needed to assess outcomes reliably.
- 650 _2
- $a novorozenec $7 D007231
- 650 _2
- $a lidé $7 D006801
- 650 12
- $a genetické testování $x metody $7 D005820
- 650 12
- $a cystická fibróza $x diagnóza $x genetika $7 D003550
- 650 _2
- $a protein CFTR $x genetika $7 D019005
- 650 _2
- $a trypsinogen $7 D014362
- 650 _2
- $a novorozenecký screening $x metody $7 D015997
- 655 _2
- $a časopisecké články $7 D016428
- 700 1_
- $a Berger, Daria O $u ECFS NSWG Data Manager, Institute of Social and Preventive Medicine and Graduate School for Health Sciences, University of Bern, Switzerland
- 700 1_
- $a Southern, Kevin W $u Department of Women's and Children's Health, University of Liverpool, United Kingdom
- 700 1_
- $a Carducci, Carla $u Department of Experimental Medicine, Sapienza University, Rome Italy
- 700 1_
- $a de Winter-de Groot, Karin M $u Department of Paediatric Pulmonology & Allergology, Wilhelmina Children's Hospital/University Medical Centre Utrecht, Utrecht University, Utrecht, the Netherlands
- 700 1_
- $a Gartner, Silvia $u Pediatric Pulmonology and Cystic Fibrosis Unit, Hospital Universitari Vall d ́Hebron, Barcelona, Spain
- 700 1_
- $a Kashirskaya, Nataliya $u Laboratory of genetic epidemiology, Research Centre for Medical Genetics/Moscow Regional Research and Clinical Institute, Moscow, Russian Federation
- 700 1_
- $a Linnane, Barry $u Graduate Entry Medical School and Centre for Interventions in Infection, Inflammation & Immunity (4i), University of Limerick, Limerick, Ireland
- 700 1_
- $a Proesmans, Marijke $u Division of Woman and Child, Department of Pediatrics, University Hospitals Leuven, Leuven, Belgium
- 700 1_
- $a Sands, Dorota $u Cystic Fibrosis Department, Institute of Mother and Child, Warsaw, Poland
- 700 1_
- $a Sommerburg, Olaf $u Paediatric Pulmonology, Allergology & CF Centre, Department of Paediatrics III, and Translational Lung Research Center, German Lung Research Center, University Hospital Heidelberg, Germany
- 700 1_
- $a Castellani, Carlo $u IRCCS Istituto Giannina Gaslini, Cystic Fibrosis Center, Genoa, Italy
- 700 1_
- $a Barben, Jürg $u Paediatric Pulmonology & CF Centre, Children's Hospital of Eastern Switzerland, St. Gallen, Switzerland. Electronic address: juerg.barben@kispisg.ch
- 710 2_
- $a European CF Society Neonatal Screening Working Group (ECFS NSWG)
- 773 0_
- $w MED00006892 $t Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society $x 1873-5010 $g Roč. 22, č. 3 (2023), s. 484-495
- 856 41
- $u https://pubmed.ncbi.nlm.nih.gov/36372700 $y Pubmed
- 910 __
- $a ABA008 $b sig $c sign $y p $z 0
- 990 __
- $a 20230718 $b ABA008
- 991 __
- $a 20230801133224 $b ABA008
- 999 __
- $a ok $b bmc $g 1963849 $s 1197917
- BAS __
- $a 3
- BAS __
- $a PreBMC-MEDLINE
- BMC __
- $a 2023 $b 22 $c 3 $d 484-495 $e 20221110 $i 1873-5010 $m Journal of cystic fibrosis $n J Cyst Fibros $x MED00006892
- LZP __
- $a Pubmed-20230718
