Neonatal Screening in Europe Revisited: An ISNS Perspective on the Current State and Developments Since 2010
Kocova Mirjana; Oltarzewski Mariusz; Vogazianos Marios; Vevere Parsla; Groselj Urh; Schielen Peter C.J.I.; Moldovanu Florentina; Mikelsaar Ruth; Fingerhut Ralph; Bonham James R.; Kozich Viktor; Ramadza Danijela; Platis Dimitris; Kotori Vjosa; O’Grady Loretta; Szatmari Ildiko; Almashanu Shlomo; Yahyaoui Raquel; Kurkijärvi Riikka; Zeyda Maximilian; Kremezna Anastasiia; Pettersen Rolf D.; Tovmasyan Irina; Dekkers Eugenie; Samardzic Mira; Toromanovic Alma; Boemer François; Zetterström Rolf H.; Vilarinho Laura; Brincat Ian; Songailiené Jurgita; Mitkin Vyacheslav; Franzson Leifur; Dimitrov Dobry; Cheillan David; Tezel Basak; Hougaard David; LoeberJ. Gerard; Ceglarek Uta; La Marca Giancarlo; Salimbayeva Damilya; Usurelu Natalia; Knapkova Maria; Tabatadze Nazi; Shamsiddinova Markhabo; Milenkovic Tatjana; Borde Patricia
Neonatal Screening in Europe Revisited: An ISNS Perspective on the Current State and Developments Since 2010
Kocova Mirjana
Oltarzewski Mariusz
Vogazianos Marios
Vevere Parsla
Groselj Urh
Schielen Peter C.J.I.
Moldovanu Florentina
Mikelsaar Ruth
Fingerhut Ralph
Bonham James R.
Kozich Viktor
Ramadza Danijela
Platis Dimitris
Kotori Vjosa
O’Grady Loretta
Szatmari Ildiko
Almashanu Shlomo
Yahyaoui Raquel
Kurkijärvi Riikka
Zeyda Maximilian
Kremezna Anastasiia
Pettersen Rolf D.
Tovmasyan Irina
Dekkers Eugenie
Samardzic Mira
Toromanovic Alma
Boemer François
Zetterström Rolf H.
Vilarinho Laura
Brincat Ian
Songailiené Jurgita
Mitkin Vyacheslav
Franzson Leifur
Dimitrov Dobry
Cheillan David
Tezel Basak
Hougaard David
LoeberJ. Gerard
Ceglarek Uta
La Marca Giancarlo
Salimbayeva Damilya
Usurelu Natalia
Knapkova Maria
Tabatadze Nazi
Shamsiddinova Markhabo
Milenkovic Tatjana
Borde Patricia
MDPI
Julkaisun pysyvä osoite on:
https://urn.fi/URN:NBN:fi-fe2021093048053
https://urn.fi/URN:NBN:fi-fe2021093048053
Tiivistelmä
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.
Kokoelmat
- Rinnakkaistallenteet [19207]