Publications by the ECFS NSWG:
Members of the working group have written a series of articles on newborn screening for CF which have been published as a book in September 2020:
Newborn Screening for Cystic Fibrosis
Table of Content:
- Jürg Barben and Kevin W. Southern, Why Do We Screen Newborn Infants for Cystic Fibrosis?
Int. J. Neonatal Screen. 2020, 6, 56, doi:10.3390/ijns6030056 - Carlo Castellani, Newborn Screening for Cystic Fibrosis: Over the Hump, Still Need to Fine-Tune It
Int. J. Neonatal Screen. 2020, 6, 57, doi:10.3390/ijns6030057 - Georges Travert, Mary Heeley and Anthony Heeley, History of Newborn Screening for Cystic Fibrosis—The Early Years
Int. J. Neonatal Screen. 2020, 6, 8, doi:10.3390/ijns6010008 - Lutz Naehrlich, The Changing Face of Cystic Fibrosis and Its Implications for Screening
Int. J. Neonatal Screen. 2020, 6, 54, doi:10.3390/ijns6030054 - Natasha Heather and Dianne Webster, It All Depends What You Count—The Importance of Definitions in Evaluation of CF Screening Performance
Int. J. Neonatal Screen. 2020, 6, 47, doi:10.3390/ijns6020047 - Virginie Scotet, Hector Gutierrez and Philip M. Farrell, Newborn Screening for CF across the Globe—Where Is It Worthwhile?
Int. J. Neonatal Screen. 2020, 6, 18, doi:10.3390/ijns6010018 - Rachael E. Armstrong, Lucy Frith, Fiona M. Ulph and KevinW. Southern, Constructing a Bioethical Framework to Evaluate and Optimise Newborn Bloodspot Screening for Cystic Fibrosis
Int. J. Neonatal Screen. 2020, 6, 40, doi:10.3390/ijns6020040 - Olaf Sommerburg and Jutta Hammermann, Pancreatitis-Associated Protein in Neonatal Screening for Cystic Fibrosis: Strengths and Weaknesses
Int. J. Neonatal Screen. 2020, 6, 28, doi:10.3390/ijns6020028 - Anne Bergougnoux, Maureen Lopez and Emmanuelle Girodon, The Role of Extended CFTR Gene Sequencing in Newborn Screening for Cystic Fibrosis
Int. J. Neonatal Screen. 2020, 6, 23, doi:10.3390/ijns6010023 - Anne Munck, Inconclusive Diagnosis after Newborn Screening for Cystic Fibrosis
Int. J. Neonatal Screen. 2020, 6, 19, doi:10.3390/ijns6010019 - Jürg Barben and Jane Chudleigh, Processing Newborn Bloodspot Screening Results for CF
J. Neonatal Screen. 2020, 6, 25, doi:10.3390/ijns6020025 - Jane Chudleigh and Holly Chinnery, Psychological Impact of NBS for CF
Int. J. Neonatal Screen. 2020, 6, 27, doi:10.3390/ijns6020027
All articles listed in the table of content above can be downloaded here
Since 2004, the Working Group has published the following articles in the Journal of Cystic Fibrosis.
- A survey of NBS for CF in Europe
Journal of Cystic Fibrosis Volume 6 (2007) 57-65 - A European consensus for the evaluation and management of infants with an equivocal diagnosis following newborn screening for cystic fibrosis
Journal of Cystic Fibrosis Volume 8 (2009) 71-78 Article - European best practice guidelines for cystic fibrosis neonatal screening
Journal of Cystic Fibrosis Volume 8 (2009) 153-173 Article - Guidelines on the early management of Infants diagnosed with CF following NBS
Journal of Cystic Fibrosis Volume 10 (2010) 323-329 - Cystic Fibrosis Screen Positive, Inconclusive Diagnosis (CFSPID): A new designation and management recommendations for infants with an inconclusive diagnosis following newborn screening.
Journal of Cystic Fibrosis Volume 14 (2015) 706-713 Article - The expansion and performance of national newborn screening programmes for cystic fibrosis in Europe.
Journal of Cystic Fibrosis Volume 16 (2017) 207-213 Article - Inconclusive diagnosis after a positive newborn bloodspot screening result for cystic fibrosis; clarification of the harmonised international definition»
Journal of Cystic Fibrosis Volume 18 (2019) 778–780 Article - Updated guidance on the management of children with cystic fibrosis transmembrane conductance regulator-related metabolic syndrome/cystic fibrosis screen positive, inconclusive diagnosis (CRMS/CFSPID)
J Cyst Fibros Volume (2020) 810-819 Article - Defining key outcomes to evaluate performance of newborn screening programmes for cystic fibrosis
J Cyst Fibros 2021 Volume 20 (2021) 820-823 Article - European survey of newborn bloodspot screening for CF: opportunity to address challenges and improve performance.
J Cyst Fibros 2022 Nov 10; doi: 10.1016/j.jcf.2022.09.012. Online ahead of print. Article - Cystic Fibrosis Cases Missed by Newborn Bloodspot Screening — Towards a Consistent Definition and Data Acquisition. Int. J. Neonatal Screen. 2023;9:65. https://doi.org/10.3390/ijns9040065. Article
- Risk of false newborn screening after intra-uterine exposure to ETI - Letter to the editor. Journal of Cystic Fibrosis 2023 in press: https://doi.org/10.1016/j.jcf.2023.07.003 Article