Neonatal Screening in Europe Revisited: An ISNS Perspective on the Current State and Developments Since 2010
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11110%2F21%3A10428001" target="_blank" >RIV/00216208:11110/21:10428001 - isvavai.cz</a>
Alternative codes found
RIV/00064165:_____/21:10428001
Result on the web
<a href="https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=jTw74blZ3c" target="_blank" >https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=jTw74blZ3c</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.3390/ijns7010015" target="_blank" >10.3390/ijns7010015</a>
Alternative languages
Result language
angličtina
Original language name
Neonatal Screening in Europe Revisited: An ISNS Perspective on the Current State and Developments Since 2010
Original language description
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.
Czech name
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Czech description
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Classification
Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
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OECD FORD branch
30209 - Paediatrics
Result continuities
Project
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Continuities
V - Vyzkumna aktivita podporovana z jinych verejnych zdroju
Others
Publication year
2021
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
International Journal of Neonatal Screening [online]
ISSN
2409-515X
e-ISSN
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Volume of the periodical
7
Issue of the periodical within the volume
1
Country of publishing house
CH - SWITZERLAND
Number of pages
21
Pages from-to
15
UT code for WoS article
000633113100001
EID of the result in the Scopus database
2-s2.0-85105666706