Jürg Barben1, Carlo Castellani2, Jeannette Dankert-Roelse3, Silvia Gartner4, Nataliya Kashirskaya5, Barry Linnane6, Sarah Mayell7, Anne Munck8, Dorota Sands9, Olaf Sommerburg10, Simon Pybus11, Victoria Winters11, Kevin W Southern11. 1. Cystic Fibrosis Centre, Children's Hospital of Eastern Switzerland, St. Gallen, Switzerland. Electronic address: juerg.barben@kispisg.ch. 2. Cystic Fibrosis Centre, Azienda Ospedaliera Verona, Verona, Italy. 3. Atrium Medical Centre, Department of Pediatrics, Heerlen, The Netherlands. 4. Cystic Fibrosis Centre, Hospital Universitari Vall d'Hebron, Barcelona, Spain. 5. Department of Cystic Fibrosis, Research Centre for Medical Genetics, Moscow, Russia. 6. Mid-Western Regional Hospital, Dooradoyle, Limerick, Ireland. 7. Alder Hey Children's NHS Foundation Trust, Liverpool, UK. 8. AFDPHE & Hôpital Robert Debré, Paris, France. 9. Cystic Fibrosis Centre, Institute of Mother and Child, Warsaw, Poland. 10. Division of Pediatric Pulmonology & Allergy, Department of Pediatrics III, University of Heidelberg, Heidelberg, Germany; Translational Lung Research Center Heidelberg (TLRC), German Center for Lung Research (DZL), Heidelberg, Germany. 11. Institute in the Park, Alder Hey Children's Hospital, University of Liverpool, UK.
Abstract
BACKGROUND: Newborn screening (NBS) for cystic fibrosis (CF) is a well-established public health strategy with international standards. The aim of this study was to provide an update on NBS for CF in Europe and assess performance against the standards. METHODS: Questionnaires were sent to key workers in each European country. RESULTS: In 2016, there were 17 national programmes, 4 countries with regional programmes and 25 countries not screening in Europe. All national programmes employed different protocols, with IRT-DNA the most common strategy. Five countries were not using DNA analysis. In addition, the processing and structure of programmes varied considerably. Most programmes were achieving the ECFS standards with respect to timeliness, but were less successful with respect to sensitivity and specificity. CONCLUSIONS: There has been a steady increase in national CF NBS programmes across Europe with variable strategies and outcomes that reflect the different approaches.
BACKGROUND: Newborn screening (NBS) for cystic fibrosis (CF) is a well-established public health strategy with international standards. The aim of this study was to provide an update on NBS for CF in Europe and assess performance against the standards. METHODS: Questionnaires were sent to key workers in each European country. RESULTS: In 2016, there were 17 national programmes, 4 countries with regional programmes and 25 countries not screening in Europe. All national programmes employed different protocols, with IRT-DNA the most common strategy. Five countries were not using DNA analysis. In addition, the processing and structure of programmes varied considerably. Most programmes were achieving the ECFS standards with respect to timeliness, but were less successful with respect to sensitivity and specificity. CONCLUSIONS: There has been a steady increase in national CF NBS programmes across Europe with variable strategies and outcomes that reflect the different approaches.
Authors: Scott C Bell; Marcus A Mall; Hector Gutierrez; Milan Macek; Susan Madge; Jane C Davies; Pierre-Régis Burgel; Elizabeth Tullis; Claudio Castaños; Carlo Castellani; Catherine A Byrnes; Fiona Cathcart; Sanjay H Chotirmall; Rebecca Cosgriff; Irmgard Eichler; Isabelle Fajac; Christopher H Goss; Pavel Drevinek; Philip M Farrell; Anna M Gravelle; Trudy Havermans; Nicole Mayer-Hamblett; Nataliya Kashirskaya; Eitan Kerem; Joseph L Mathew; Edward F McKone; Lutz Naehrlich; Samya Z Nasr; Gabriela R Oates; Ciaran O'Neill; Ulrike Pypops; Karen S Raraigh; Steven M Rowe; Kevin W Southern; Sheila Sivam; Anne L Stephenson; Marco Zampoli; Felix Ratjen Journal: Lancet Respir Med Date: 2019-09-27 Impact factor: 30.700
Authors: Anna Zolin; Anna Bossi; Natalia Cirilli; Nataliya Kashirskaya; Rita Padoan Journal: Int J Environ Res Public Health Date: 2018-09-15 Impact factor: 3.390