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

JG. Loeber, D. Platis, RH. Zetterström, S. Almashanu, F. Boemer, JR. Bonham, P. Borde, I. Brincat, D. Cheillan, E. Dekkers, D. Dimitrov, R. Fingerhut, L. Franzson, U. Groselj, D. Hougaard, M. Knapkova, M. Kocova, V. Kotori, V. Kozich, A....

. 2021 ; 7 (1) : . [pub] 20210305

Language English Country Switzerland

Document type Journal Article

Persistent link   https://www.medvik.cz/link/bmc21018219

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.

Arbes Health Care Centre Yerevan 0014 Armenia

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 National Institue for Public Health and the Environment 3720BA Bilthoven The Netherlands

Child and Adolescent Health Department 06430 Ankara Turkey

Children's Clinic 1083 Budapest Hungary

Children's University Hospital 1004 Riga Latvia

CHU Domaine du Sart Tilman 4000 Liège Belgium

Clinical and Diagnostic Center Pharmbiotest LLC 93000 Rubizhne Ukraine

Department Genetics and Molecular Medicine Landspitali Reykjavik 108 Iceland

Department of Newborn Screening Institute of Child Health 11527 Athens Greece

Department of Pediatrics and Adolescent Medicine 1090 Vienna Austria

Department of Pediatrics and Inherited Metabolic Disorders Charles University 1st Faculty of Medicine and General University Hospital Prague 12808 Czech Republic

Department of Pediatrics University Clinical Centre Tuzla 75000 Bosnia and Herzegovina

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 Office 3721CK Bilthoven The Netherlands

Laboratoire National de Santé 3555 Dudelange Luxembourg

Málaga Regional University Hospital Institute of Biomedical Research IBIMA 29011 Málaga Spain

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 50139 Florence Italy

Mother and Child Health Care Institute of Serbia Belgrade 11070 Serbia

National Centre Health and Reproductive and Medical Genetics 2062 Chisinau Moldova

National Genetic Laboratory Hospital Maichin Dom 1431 Sofia Bulgaria

National Institute for Mother and Child Health 050474 Bucharest Romania

National Institute of Health 4000 055 Porto Portugal

Neonatal Screening Center 115580 Moscow Russia

Neonatal Screening Laboratory Children's Hospital CH 8032 Zürich Switzerland

NeugoGenetic and Metabolic Center Tbilisi 0194 Georgia

Newborn Blood Spot Screening Laboratory Dublin 1 Ireland

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

Norwegian National Unit for Newborn Screening 0424 Oslo 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 Sheffield S10 2TH UK

Staten Serum Institute 2300 Copenhagen Denmark

University Children's Hospital 1000 Ljubljana Slovenia

University Clinic 04103 Leipzig Germany

University Clinical Centre Pristina 10000 Kosovo

University Hospital Medical Centre Zagreb 10000 Zagreb Croatia

References provided by Crossref.org

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$a Salimbayeva, Damilya $u Republican Scientific Centre for Gynaecology and Perinatology, Almaty 050020, Kazakhstan
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$a Samardzic, Mira $u Institute for Sick Children, 81000 Podgorica, Montenegro
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