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

International Journal of Neonatal Screening

Irina Tovmasyan¹  François Boemer²  Marios Vogazianos³  Rolf H. Zetterström⁴  Jurgita Songailiené⁵  Eugenie Dekkers⁶  Basak Tezel⁷  Parsla Vevere⁸  Ildiko Szatmari⁹  Anastasiia Kremezna^1,10  Dimitris Platis^1,11  Maximilian Zeyda^1,12  Alma Toromanovic^1,13  Leifur Franzson^1,14  Viktor Kozich^1,15  David Cheillan^1,16  Mira Samardzic^1,17  Mariusz Oltarzewski^1,18  Peter C.J.I. Schielen^1,19  J. Gerard Loeber^1,19  Patricia Borde^2,20  Ian Brincat^2,21  Mirjana Kocova^2,22  Ruth Mikelsaar^2,23  Giancarlo La Marca^2,24  Tatjana Milenkovic^2,25  Raquel Yahyaoui^2,26  Natalia Usurelu^2,27  Dobry Dimitrov^2,28  Florentina Moldovanu^2,29  Laura Vilarinho^3,30  Vyacheslav Mitkin^3,31  Ralph Fingerhut^3,32  Nazi Tabatadze^3,33  Maria Knapkova^3,34  Riikka Kurkijärvi^3,35  Shlomo Almashanu^3,36  Loretta O’Grady^3,37  Rolf D. Pettersen^3,38  Markhabo Shamsiddinova^3,39  Damilya Salimbayeva^4,40  James R. Bonham^4,41  David Hougaard^4,42  Urh Groselj^4,43  Uta Ceglarek^4,44  Vjosa Kotori^4,45  Danijela Ramadza^4,46 

[1] Arbes Health Care Centre, Yerevan 0014, Armenia;CHU-Domaine du Sart Tilman, 4000 Liège, Belgium;Center for Preventive Paediatrics, 3022 Limassol, Cyprus;Centre for Inherited Metabolic Diseases, Karolinska University Hospital and Department of Molecular Medicine and Surgery, Karolinska Institute, SE-17 76 Stockholm, Sweden;Centre for Medical Genetics, 08661 Vilnius, Lithuania;Centre for Population Research, Natl. Inst. for Public Health and the Environment (RIVM), Bilthoven 3720BA, The Netherlands;Child and Adolescent Health Department, 06430 Ankara, Turkey;Children's University Hospital, Riga 1004, Latvia;Children’s Clinic, 1083 Budapest, Hungary;Clinical and Diagnostic Center "Pharmbiotest", LLC 93000 Rubizhne, Ukraine;Department of Newborn Screening, Institute of Child Health, Athens 11527, Greece;Department of Pediatrics and Adolescent Medicine, 1090 Vienna, Austria;Department of Pediatrics, University Clinical Centre, Tuzla 75000, Bosnia and Herzegovina;Dept Genetics & Molecular Medicine, Landspitali, 108 Reykjavik, Iceland;Dept of Pediatrics and Inherited Metabolic Disorders, Charles University-First Faculty of Medicine and General University Hospital, Prague 12808, Czech Republic;Groupement Hospitalier Est, 69500 Bron, France;Institute for Sick Children, 81000 Podgorica, Montenegro;Institute of Mother and Child, 01-211 Warsaw, Poland;International Society for Neonatal Screening (ISNS) Office, 3721CK Bilthoven, The Netherlands;Laboratoire National de Santé, 3555 Dudelange, Luxembourg;Mater Dei Hospital, Tal-Qroqq Msida, MSD2090 Msida, Malta;Medical Faculty, 1000 Skopje, North Macedonia;Medical Faculty, University of Tartu, 50411 Tart, Estonia;Meyer Hospital, Florence 50139, Italy;Mother and Child Health Care Institute of Serbia, Belgrade 11070, Serbia;Málaga Regional University Hospital. Institute of Biomedical Research IBIMA, 29011 Málaga, Spain;National Centre Health and Reproductive & Medical Genetics, Chisinau 2062, Moldova;National Genetic Laboratory, Hospital Maichin Dom, 1431 Sofia, Bulgaria;National Institute for Mother and Child Health, 050474 Bucharest, Romania;National Institute of Health, Porto 4000-055, Portugal;Neonatal Screening Center, Moscow 115580, Russia;Neonatal Screening Laboratory, Children’s Hospital, CH-8032 Zürich, Switzerland;NeugoGenetic and Metabolic Center, Tbilisi 0194, Georgia;Newborn Screening Centre, Banska Bystrica 97401, Slovakia;Newborn Screening Centre, Turku University Hospital, 20521 Turku, Finland;Newborn Screening Laboratories, Tel-HaShomer, 52621 Ramat Gan, Israel;Newborn blood spot screening laboratory, Dublin 1, Ireland;Norwegian National Unit for Newborn Screening, Oslo 0424, Norway;Republican Center Mother and Child Screening, Tashkent 100164, Uzbekistan;Republican Scientific Centre for Gynaecology and Perinatology, Almaty 050020, Kazakhstan;Sheffield Children's NHS Foundation Trust, S10 2TH Sheffield, UK;Staten Serum Institute, 2300 Copenhagen, Denmark;University Children's Hospital, 1000 Ljubljana, Slovenia;University Clinic, 04103 Leipzig, Germany;University Clinical Centre, 10000 Pristina, Kosovo;University Hospital Medical Centre Zagreb, 10000 Zagreb, Croatia;

关键词: neonatal screening;    newborn screening;    congenital metabolic disorders;    rare diseases;    dried blood spot screening;    congenital endocrine disorders;   

DOI  :  10.3390/ijns7010015

来源: DOAJ

【 摘 要 】

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.

【 授权许可】

Unknown