A1 Refereed original research article in a scientific journal
Neonatal Screening in Europe Revisited: An ISNS Perspective on the Current State and Developments Since 2010
Authors: LoeberJ. Gerard, Platis Dimitris, Zetterström Rolf H., Almashanu Shlomo, Boemer François, Bonham James R., Borde Patricia, Brincat Ian, Cheillan David, Dekkers Eugenie, Dimitrov Dobry, Fingerhut Ralph, Franzson Leifur, Groselj Urh, Hougaard David, Knapkova Maria, Kocova Mirjana, Kotori Vjosa, Kozich Viktor, Kremezna Anastasiia, Kurkijärvi Riikka, La Marca Giancarlo, Mikelsaar Ruth, Milenkovic Tatjana, Mitkin Vyacheslav, Moldovanu Florentina, Ceglarek Uta, O’Grady Loretta, Oltarzewski Mariusz, Pettersen Rolf D., Ramadza Danijela, Salimbayeva Damilya, Samardzic Mira, Shamsiddinova Markhabo, Songailiené Jurgita, Szatmari Ildiko, Tabatadze Nazi, Tezel Basak, Toromanovic Alma, Tovmasyan Irina, Usurelu Natalia, Vevere Parsla, Vilarinho Laura, Vogazianos Marios, Yahyaoui Raquel, Zeyda Maximilian, Schielen Peter C.J.I.
Publisher: MDPI
Publication year: 2021
Journal: International Journal of Neonatal Screening
Journal name in source: INTERNATIONAL JOURNAL OF NEONATAL SCREENING
Journal acronym: INT J NEONAT SCREEN
Article number: ARTN 15
Volume: 7
Issue: 1
Number of pages: 21
eISSN: 2409-515X
DOI: https://doi.org/10.3390/ijns7010015
Self-archived copy’s web address: https://research.utu.fi/converis/portal/Publication/53907474
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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