Free Access
Med Sci (Paris)
Volume 37, Number 5, Mai 2021
La révolution médicale du dépistage néonatal – Une aventure médicale scientifique et sociétale
Page(s) 441 - 456
Section La révolution médicale du dépistage néonatal – Une aventure médicale scientifique et sociétale
Published online 18 May 2021
  1. Woolf LI, Adams J. The early history of PKU. Int J Neonatal Screen 2020; 6 : 59–62. [Google Scholar]
  2. GuthrieR, SusiAA simple phenylalanine method for detecting phenylketonuria in large populations of newborn infants. Pediatrics 1963 ; 32 : 338–343. [PubMed] [Google Scholar]
  3. DussaultJH, LabergeCThyroxine (T4) determination by radioimmunological method in dried blood eluate: new diagnostic method of neonatal hypothyroidism?. Union Med Can 1973 ; 102 : 2062–2064. [PubMed] [Google Scholar]
  4. MillingtonDS, KodoN, NorwoodDL, RoeCRTandem mass spectrometry: a new method for acylcarnitine profiling with potential for neonatal screening for inborn errors of metabolism. J Inherit Metab Dis 1990 ; 13 : 321–324. [PubMed] [Google Scholar]
  5. RashedMS, OzandPT, HarrisonMEet al. Electrospray tandem mass spectrometry in the diagnosis of organic acidemias. Rapid Comm Mass Spectrometry 1994 ; 8 : 129–133. [Google Scholar]
  6. Schulze A, Lindner M, Kohlmuller D. et al. Expanded newborn screening for inborn errors of metabolism by electrospray ionization-tandem mass spectrometry: results, outcome, and implications. Pediatrics 2003; 111 : 1399–406. [PubMed] [Google Scholar]
  7. WilsonJM, JungnerYGPrinciples and practice of mass screening for disease. Bull WHO 1968 ; 65 : 281–393. [Google Scholar]
  8. International Society for Neonatal Screening - Region Europe. [Google Scholar]
  9. List of European countries by population. [Google Scholar]
  10. World Bank Data - Birth rate. [Google Scholar]
  11. Burgard P, Cornel MC, Di Filippo F, et al. Short executive summary of the report on the practices of newborn screening for rare disorders in member states of the European Union, candidate and potential candidate, and EFTA countries (2011). [Google Scholar]
  12. Cornel MC, Rigter T, Weinreich S, et al. Newborn screening in Europe; expert opinion document (2011)., Eur J Hum Genet 2014; 22: 12–7. [Google Scholar]
  13. LoeberJGEuropean Union should actively stimulate and harmonise neonatal screening initiatives. Int J Neonatal Screen 2018 ; 4 : 32. [PubMed] [Google Scholar]
  14. LoeberJGNeonatal screening in Europe: situation in 2004. Int J Neonatal Screen 2007 ; 30 : 430–438. [Google Scholar]
  15. Loeber JG, Burgard P, Cornel MC, et al. Newborn screening programmes in Europe; arguments and efforts regarding harmonization. Part 1. From blood spot to screening result. J Inher Metab Dis 2012; 35 : 603–11. [Google Scholar]
  16. Burgard P, Rupp K, Lindner M, et al. Newborn screening programmes in Europe; arguments and efforts regarding harmonization. Part 2. From screening laboratory results to treatment, follow-up and quality assurance. J Inher Metab Dis 2012; 35 : 613–25. [Google Scholar]
  17. TherrellBL, PadillaCD, LoeberJGet al. Current status of newborn screening worldwide 2015. Semin Perinatol 2015 ; 39 : 171–187. [PubMed] [Google Scholar]
  18. GroseljU, TansekMZ, SmonAet al. Newborn screening in southeastern Europe. Mol Genet Metab 2014 ; 113 : 42–45. [PubMed] [Google Scholar]
  19. EstrellaJ, WilckenB, CarpenterKet al. Expanded newborn screening in New South Wales: missed cases. J Inher Metab Dis 2014 ; 37 : 881–887. [Google Scholar]
  20. BonehA, AndresenBS, GregersenNet al. VLCAD deficiency: pitfalls in newborn screening and confirmation of diagnosis by mutation analysis. Mol Genet Metab 2006 ; 88 : 166–170. [PubMed] [Google Scholar]
  21. SchymikI, LiebigM, MuellerMet al. Pitfalls of neonatal screening for very-long-chain acyl-CoA dehydrogenase deficiency using tandem mass spectrometry. J Pediatr 2006 ; 149 : 128–130. [PubMed] [Google Scholar]
  22. Tangeraas T, Sæves I, Klingenberg C, et al. Performance of expanded newborn screening in norway supported by post-analytical bioinformatics tools and rapid second-tier DNA analyses. Int J Neonatal Screen 2020; 6 : 51. [PubMed] [Google Scholar]
  23. Van Rijt WJ, Schielen PCJI, Özer Y, et al. Instability of acylcarnitines in stored dried blood spots: the impact on retrospective analysis of biomarkers for inborn errors of metabolism. Int J Neonatal Screen 2020; 6 : 83–95. [Google Scholar]
  24. General Data Protection Regulation (GDPR) 2016. [Google Scholar]
  25. CLIR - Collaborative laboratory integrated reports. [Google Scholar]
  26. McHughD, CameronCA, AbdenurJEet al. Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: a worldwide collaborative project. Genet Med 2011 ; 13 : 230–254. [CrossRef] [PubMed] [Google Scholar]
  27. MarquardtG, CurrierR, McHughDMet al. Enhanced interpretation of newborn screening results without analyte cutoff values. Genet Med 2012 ; 14 : 648–655. [PubMed] [Google Scholar]
  28. Minter BaergMM, StowaySD, HartJet al. Precision newborn screening for lysosomal disorders. Genet Med 2018 ; 20 : 847–854. [PubMed] [Google Scholar]
  29. LantingCI, van TijnDA, LoeberJGet al. Clinical effectiveness and cost-effectiveness of the use of the thyroxine/thyroxine-binding globulin ratio to detect congenital hypothyroidism of thyroidal and central origin in a neonatal screening program. Pediatrics 2005 ; 116 : 168–173. [PubMed] [Google Scholar]
  30. Stroek K, Heijboer AC, Bouva MJ, et al. Critical evaluation of the newborn screening for congenital hypothyroidism in the Netherlands. Eur J Endocrinol 2020; 183 : 265–73. [PubMed] [Google Scholar]
  31. SeverinF, BorryP, CornelMCet al. Points to consider for prioritizing clinical genetic testing services: a European consensus process oriented at accountability for reasonableness. Eur J Hum Genet 2015 ; 23 : 729–735. [PubMed] [Google Scholar]
  32. International Society for Neonatal Screening - Databank Disorders. [Google Scholar]

Current usage metrics show cumulative count of Article Views (full-text article views including HTML views, PDF and ePub downloads, according to the available data) and Abstracts Views on Vision4Press platform.

Data correspond to usage on the plateform after 2015. The current usage metrics is available 48-96 hours after online publication and is updated daily on week days.

Initial download of the metrics may take a while.