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00925njm 22002777a 4500 dc Loeber, J Gerard author Platis, Dimitris author Zetterström, Rolf H author Almashanu, Shlomo author Boemer, François author Bonham, James R author Borde, Patricia author Brincat, Ian author Cheillan, David author Dekkers, Eugenie author Dimitrov, Dobry author Fingerhut, Ralph author Franzson, Leifur author Groselj, Urh author Hougaard, David author Knapkova, Maria author Kocova, Mirjana author Kotori, Vjosa author Kozich, Viktor author Kremezna, Anastasiia author Kurkijärvi, Riikka author La Marca, Giancarlo author Mikelsaar, Ruth author Milenkovic, Tatjana author Mitkin, Vyacheslav author Moldovanu, Florentina author Ceglarek, Uta author O'Grady, Loretta author Oltarzewski, Mariusz author Pettersen, Rolf D author Ramadza, Danijela author Salimbayeva, Damilya author Samardzic, Mira author Shamsiddinova, Markhabo author Songailiené, Jurgita author Szatmari, Ildiko author Tabatadze, Nazi author Tezel, Basak author Toromanovic, Alma author Tovmasyan, Irina author Usurelu, Natalia author Vevere, Parsla author Vilarinho, Laura author Vogazianos, Marios author Yahyaoui, Raquel author Zeyda, Maximilian author Schielen, Peter C J I author 2021-03-05 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. 10.3390/ijns7010015 2409-515X International journal of neonatal screening http://hdl.handle.net/10668/17502 33808002 http://hdl.handle.net/20.500.12105/18280 ISNS International Society for Neonatal Screening congenital endocrine disorders congenital metabolic disorders dried blood spot screening neonatal screening newborn screening public health rare diseases Neonatal Screening in Europe Revisited: An ISNS Perspective on the Current State and Developments Since 2010.