Neonatal Screening in Europe Revisited: An ISNS Perspective on the Current State and Developments Since 2010
Status PubMed-not-MEDLINE Language English Country Switzerland Media electronic
Document type Journal Article
PubMed
33808002
PubMed Central
PMC8006225
DOI
10.3390/ijns7010015
PII: ijns7010015
Knihovny.cz E-resources
- Keywords
- ISNS, International Society for Neonatal Screening, congenital endocrine disorders, congenital metabolic disorders, dried blood spot screening, neonatal screening, newborn screening, public health, rare diseases,
- Publication type
- Journal Article MeSH
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 Medical Genetics 08661 Vilnius Lithuania
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 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
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