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

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...

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Autores principales: Loeber, J. 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8006225/
https://www.ncbi.nlm.nih.gov/pubmed/33808002
http://dx.doi.org/10.3390/ijns7010015
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author Loeber, J. 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.
author_facet Loeber, J. 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.
author_sort Loeber, J. Gerard
collection PubMed
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.
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spelling pubmed-80062252021-03-30 Neonatal Screening in Europe Revisited: An ISNS Perspective on the Current State and Developments Since 2010 Loeber, J. 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. Int J Neonatal Screen Article 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. MDPI 2021-03-05 /pmc/articles/PMC8006225/ /pubmed/33808002 http://dx.doi.org/10.3390/ijns7010015 Text en © 2021 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/).
spellingShingle Article
Loeber, J. 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.
Neonatal Screening in Europe Revisited: An ISNS Perspective on the Current State and Developments Since 2010
title Neonatal Screening in Europe Revisited: An ISNS Perspective on the Current State and Developments Since 2010
title_full Neonatal Screening in Europe Revisited: An ISNS Perspective on the Current State and Developments Since 2010
title_fullStr Neonatal Screening in Europe Revisited: An ISNS Perspective on the Current State and Developments Since 2010
title_full_unstemmed Neonatal Screening in Europe Revisited: An ISNS Perspective on the Current State and Developments Since 2010
title_short Neonatal Screening in Europe Revisited: An ISNS Perspective on the Current State and Developments Since 2010
title_sort neonatal screening in europe revisited: an isns perspective on the current state and developments since 2010
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8006225/
https://www.ncbi.nlm.nih.gov/pubmed/33808002
http://dx.doi.org/10.3390/ijns7010015
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