Free Access
Issue
Med Sci (Paris)
Volume 37, Number 5, Mai 2021
La révolution médicale du dépistage néonatal – Une aventure médicale scientifique et sociétale
Page(s) 491 - 499
Section La révolution médicale du dépistage néonatal – Une aventure médicale scientifique et sociétale
DOI https://doi.org/10.1051/medsci/2021051
Published online 18 May 2021
  1. Wilson JMG, Jungner G. Principles and practice of screening for disease disease. Public health papers n° 34. Geneva : World Health Organization, 1968. https://apps.who.int/iris/bitstream/handle/10665/37650/WHO_PHP_34.pdf?sequence=17. [Google Scholar]
  2. Andermann A, Blancquaert I, Beauchamp S, Déry V. Revisiting Wilson and Jungner in the genomic age: a review of screening criteria over the past 40 years. Bull WHO 2008 ; 86 : 317–319. [Google Scholar]
  3. Rosenthal M. Newborn screening for cystic fibrosis: the motion against; voices in the wilderness. Paediatr Respir Rev 2008 ; 9 : 295–300. [CrossRef] [PubMed] [Google Scholar]
  4. Tridello G, Castellani C, Meneghelli I, et al. Early diagnosis from newborn screening maximises survival in severe cystic fibrosis. ERJ Open Res 2018; 4. [Google Scholar]
  5. Farrell PM, Kosorok MR, Rock MJ, et al. Early diagnosis of cystic fibrosis through neonatal screening prevents severe malnutrition and improves long-term growth. Wisconsin cystic fibrosis neonatal screening study group. Pediatrics 2001 ; 107 : 1–13. [CrossRef] [PubMed] [Google Scholar]
  6. Chatfield S, Owen G, Ryley HC, et al. Neonatal screening for cystic fibrosis in Wales and the West Midlands: clinical assessment after five years of screening. Arch Dis Child 1991 ; 66 : 29–33. [CrossRef] [PubMed] [Google Scholar]
  7. Mérelle ME, Schouten JP, Gerritsen J, Dankert-Roelse JE. Influence of neonatal screening and centralized treatment on long-term clinical outcome and survival of CF patients. Eur Respir J 2001 ; 18 : 306–315. [CrossRef] [PubMed] [Google Scholar]
  8. Mastella G, Zanolla L, Castellani C, et al. Neonatal screening for cystic fibrosis: long-term clinical balance. Pancreatology 2001 ; 1 : 531–537. [CrossRef] [PubMed] [Google Scholar]
  9. Siret D, Bretaudeau G, Branger B, et al. Comparing the clinical evolution of cystic fibrosis screened neonatally to that of cystic fibrosis diagnosed from clinical symptoms: a 10-year retrospective study in a French region (Brittany). Pediatr Pulmonol 2003 ; 35 : 342–349. [CrossRef] [PubMed] [Google Scholar]
  10. Wang SS, O’Leary LA, Fitzsimmons SC, Khoury MJ. The impact of early cystic fibrosis diagnosis on pulmonary function in children. J Pediatr 2002 ; 141 : 804–810. [CrossRef] [PubMed] [Google Scholar]
  11. Lai HJ, Cheng Y, Cho Het al. Association between initial disease presentation, lung disease outcomes, and survival in patients with cystic fibrosis. Am J Epidemiol 2004 ; 159 : 537–546. [CrossRef] [PubMed] [Google Scholar]
  12. Grosse SD, Boyle CA, Botkin JR, et al. Newborn screening for cystic fibrosis: evaluation of benefits and risks and recommendations for state newborn screening programs. MMWR Recomm Rep 2004 ; 53 : 1–36. [PubMed] [Google Scholar]
  13. Castellani C, Southern KW, Brownlee K, et al. European best practice guidelines for cystic fibrosis neonatal screening. J Cyst Fibros 2009 ; 8 : 153–173. [CrossRef] [PubMed] [Google Scholar]
  14. Barben J, Castellani C, Dankert-Roelse J, et al. The expansion and performance of national newborn screening programmes for cystic fibrosis in Europe. J Cyst Fibros 2017 ; 16 : 207–213. [CrossRef] [PubMed] [Google Scholar]
  15. Claustres M, Guittard C, Bozon D, et al. Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in France. Hum Mutat 2000 ; 16 : 143–156. [CrossRef] [PubMed] [Google Scholar]
  16. Nguyen-Khoa T, Borgard JP, Marchand M, et al. Analytical quality of assays and comparison of procedures for the sweat test. Ann Biol Clin 2012 ; 70 : 5–12. [Google Scholar]
  17. Castellani C, Duff AJA, Bell SC, et al. ECFS best practice guidelines: the 2018 revision. J Cyst Fibros 2018 ; 17 : 153–178. [CrossRef] [PubMed] [Google Scholar]
  18. Farrell PM, White TB, Howenstine MS, et al. Diagnosis of cystic fibrosis in screened populations. J Pediatr 2017; 181S : S33–44e2. [CrossRef] [PubMed] [Google Scholar]
  19. Munck A, Delmas D, Audrezet MP, et al. Optimization of the French cystic fibrosis newborn screening programme by a centralized tracking process. J Med Screen 2018 ; 25 : 6–12. [CrossRef] [PubMed] [Google Scholar]
  20. Thauvin-Robinet C, Munck A, Huet F, et al. The very low penetrance of cystic fibrosis for the R117H mutation: a reappraisal for genetic counselling and newborn screening. J Med Genet 2009 ; 46 : 752–758. [CrossRef] [PubMed] [Google Scholar]
  21. Smyth AR, Bell SC, Bojcin S, et al. European cystic fibrosis society standards of care: best practice guidelines. J Cyst Fibros 2014 ; 13(suppl 1): S23–S42. [CrossRef] [PubMed] [Google Scholar]
  22. Audrézet MP, Munck A. Newborn screening for CF in France: an exemplary national experience. Arch Pediatr 2020; 27 (suppl 1) : eS35-40. [CrossRef] [PubMed] [Google Scholar]
  23. Audrezet MP, Munck A, Scotet V, et al. Comprehensive CFTR gene analysis of the French cystic fibrosis screened newborn cohort: implications for diagnosis, genetic counseling, and mutation-specific therapy. Genet Med 2015 ; 17 : 108–116. [CrossRef] [PubMed] [Google Scholar]
  24. Castellani C, Massie J. Emerging issues in cystic fibrosis newborn screening. Curr Opin Pulm Med 2010 ; 16 : 584–590. [CrossRef] [PubMed] [Google Scholar]
  25. Roussey M, Beucher J, Leray E. Effect of false positive results in CF newborn screening on parental stress. Pediatr Pulmonol 2008 ; 31(suppl): 450–451. [Google Scholar]
  26. Munck A, Houssin E, Roussey M. The importance of sweat testing for older siblings of patients with cystic fibrosis identified by newborn screening. J Pediatr 2009 ; 155 : 928–930. [CrossRef] [PubMed] [Google Scholar]
  27. Munck A, Mayell SJ, Winters V, et al. Cystic fibrosis screen positive, inconclusive diagnosis (CFSPID): a new designation and management recommendations for infants with an inconclusive diagnosis following newborn screening. J Cyst Fibros 2015 ; 14 : 706–713. [CrossRef] [PubMed] [Google Scholar]
  28. Southern KW, Barben J, Gartner S, et al. Inconclusive diagnosis after a positive newborn bloodspot screening result for cystic fibrosis - Clarification of the harmonised international definition. J Cyst Fibros 2019 ; 18 : 778–780. [CrossRef] [PubMed] [Google Scholar]
  29. Ren CL, Fink AK, Petren K, et al. Outcomes of infants with indeterminate diagnosis detected by cystic fibrosis newborn screening. Pediatrics 2015 ; 135 : e1386–e1392. [CrossRef] [PubMed] [Google Scholar]
  30. Ooi CY, Castellani C, Keenan K, et al. Inconclusive diagnosis of cystic fibrosis after newborn screening. Pediatrics 2015 ; 135 : e1377–e1385. [CrossRef] [PubMed] [Google Scholar]
  31. Munck A, Bourmaud A, Bellon G, et al. Phenotype of children with inconclusive cystic fibrosis diagnosis after newborn screening. Pediatr Pulmonol 2020; 55 : 918–28. [CrossRef] [PubMed] [Google Scholar]
  32. Sermet-Gaudelus I, Brouard J, Audrezet MP, et al. Guidelines for the clinical management and follow-up of infants with inconclusive cystic fibrosis diagnosis through newborn screening. Arch Pediatr 2017 ; 24 : e1–14. [CrossRef] [PubMed] [Google Scholar]
  33. Barben J, Castellani C, Munck A, et al. 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 2020; S1569–1993 : 30909–7. [Google Scholar]
  34. Claustres M, Theze C, des Georges M, et al. CFTR-France, a national relational patient database for sharing genetic and phenotypic data associated with rare CFTR variants. Hum Mutat 2017; 38 : 1297–315. [CrossRef] [PubMed] [Google Scholar]
  35. Ramsey BW, Davies J, McElvaney NG, et al. A CFTR potentiator in patients with cystic fibrosis and the G551D mutation. N Engl J Med 2011 ; 365 : 1663–1672. [CrossRef] [PubMed] [Google Scholar]
  36. Munck A, Cheillan D, Girodon E, et al. Newborn screening for cystic fibrosis in France: practical aspects and perspectives. Perf Pediatr 2019 ; 2 : 63–71. [Google Scholar]
  37. Protocole National de Diagnostic et de Soins (PNDS). https://www.has-sante.fr/jcms/c_1340879/fr/protocoles-nationaux-de-diagnostic-et-de-soins-pnds. [Google Scholar]
  38. Sarles J, Giorgi R, Berthézène P, et al. Neonatal screening for cystic fibrosis: comparing the performances of IRT/DNA and IRT/PAP. J Cyst Fibros 2014 ; 13 : 384–390. [CrossRef] [PubMed] [Google Scholar]
  39. Dijk FN, Fitzgerald DA. The impact of newborn screening and earlier intervention on the clinical course of cystic fibrosis. Paediatr Respir Rev 2012 ; 13 : 220–225. [CrossRef] [PubMed] [Google Scholar]
  40. Coffey MJ, Whitaker V, Gentin N, et al. Differences in outcomes between early and late diagnosis of cystic fibrosis in the newborn screening era. J Pediatr 2017; 181 : 137–45e1. [CrossRef] [PubMed] [Google Scholar]
  41. Sims EJ, Mugford M, Clark A, et al. Economic implications of newborn screening for cystic fibrosis: a cost of illness retrospective cohort study. Lancet 2007 ; 369 : 1187–1195. [CrossRef] [PubMed] [Google Scholar]

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