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Neonatal Screening in Europe Revisited: An ISNS Perspective on the Current State and Developments Since 2010

J. G. Loeber 1 D. Platis 2 R. H. Zetterström 3 S. Almashanu 4 F. Boemer 5 J. R. Bonham 6 P. Borde 7 I. Brincat 8 D. Cheillan 9 E. Dekkers 10 D. Dimitrov 11 R. Fingerhut 12 L. Franzson 13 U. Groselj 14 D. Hougaard 15 M. Knapková 16, 17 M. Kocova 18 V. Kotori 19 V. Kozich 20 A. Kremezna 21 R. Kurkijärvi 22 G. La Marca 23 R. Mikelsaar 24 T. Milenkovic 25 V. Mitkin 26 F. Moldovanu 27 U. Ceglarek 28 L. O'Grady 29 M. Oltarzewski 30 R. D. Pettersen 31 D. Ramadza 32 D. Salimbayeva 33 M. Samardzic 34 M. Shamsiddinova 35 J. Songailiene 36 I. Szatmari 37 N. Tabatadze 38 B. Tezel 39 A. Toromanovic 40 I. Tovmasyan 41 N. Usurelu 42 P. Vevere 43 L. Vilarinho 44 M. Vogazianos 45 R. Yahyaoui 46 M. Zeyda 47 Pcji Schielen 1
Abstract : Neonatal screening (NBS) was initiated in Europe during the 1960s with the screening for phenylketonuria. The panel of screened disorders ("conditions") then gradually expanded, with a boost in the late 1990s with the introduction of tandem mass spectrometry (MS/MS), making it possible to screen for 40-50 conditions using a single blood spot. The most recent additions to screening programmes (screening for cystic fibrosis, severe combined immunodeficiency and spinal muscular atrophy) were assisted by or realised through the introduction of molecular technologies. For this survey, we collected data from 51 European countries. We report the developments between 2010 and 2020 and highlight the achievements reached with the progress made in this period. We also identify areas where further progress can be made, mainly by exchanging knowledge and learning from experiences in neighbouring countries. Between 2010 and 2020, most NBS programmes in geographical Europe matured considerably, both in terms of methodology (modernised) and with regard to the panel of conditions screened (expanded). These developments indicate that more collaboration in Europe through European organisations is gaining momentum. We can only accomplish the timely detection of newborn infants potentially suffering from one of the many rare diseases and take appropriate action by working together.
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Submitted on : Wednesday, September 8, 2021 - 7:40:09 AM
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J. G. Loeber, D. Platis, R. H. Zetterström, S. Almashanu, F. Boemer, et al.. Neonatal Screening in Europe Revisited: An ISNS Perspective on the Current State and Developments Since 2010. International Journal of Neonatal Screening, MDPI, 2021, 7 (1), pp.15. ⟨10.3390/ijns7010015⟩. ⟨inserm-03337431⟩



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