RT Journal Article
T1 Neonatal Screening in Europe Revisited: An ISNS Perspective on the Current State and Developments Since 2010.
A1 Loeber, J Gerard
A1 Platis, Dimitris
A1 Zetterström, Rolf H
A1 Almashanu, Shlomo
A1 Boemer, François
A1 Bonham, James R
A1 Borde, Patricia
A1 Brincat, Ian
A1 Cheillan, David
A1 Dekkers, Eugenie
A1 Dimitrov, Dobry
A1 Fingerhut, Ralph
A1 Franzson, Leifur
A1 Groselj, Urh
A1 Hougaard, David
A1 Knapkova, Maria
A1 Kocova, Mirjana
A1 Kotori, Vjosa
A1 Kozich, Viktor
A1 Kremezna, Anastasiia
A1 Kurkijärvi, Riikka
A1 La Marca, Giancarlo
A1 Mikelsaar, Ruth
A1 Milenkovic, Tatjana
A1 Mitkin, Vyacheslav
A1 Moldovanu, Florentina
A1 Ceglarek, Uta
A1 O'Grady, Loretta
A1 Oltarzewski, Mariusz
A1 Pettersen, Rolf D
A1 Ramadza, Danijela
A1 Salimbayeva, Damilya
A1 Samardzic, Mira
A1 Shamsiddinova, Markhabo
A1 Songailiené, Jurgita
A1 Szatmari, Ildiko
A1 Tabatadze, Nazi
A1 Tezel, Basak
A1 Toromanovic, Alma
A1 Tovmasyan, Irina
A1 Usurelu, Natalia
A1 Vevere, Parsla
A1 Vilarinho, Laura
A1 Vogazianos, Marios
A1 Yahyaoui, Raquel
A1 Zeyda, Maximilian
A1 Schielen, Peter C J I
K1 ISNS
K1 International Society for Neonatal Screening
K1 congenital endocrine disorders
K1 congenital metabolic disorders
K1 dried blood spot screening
K1 neonatal screening
K1 newborn screening
K1 public health
K1 rare diseases
AB 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.
YR 2021
FD 2021-03-05
LK http://hdl.handle.net/10668/17502
UL http://hdl.handle.net/10668/17502
LA en
DS RISalud
RD Apr 7, 2025