Neonatal screening in europe revisited: An ISNS perspective on the current state and developments since 2010
Loeber J.G. Platis D. Zetterström R.H. Almashanu S. Boemer F. Bonham J.R. Borde P. Brincat I. Cheillan D. Dekkers E. Dimitrov D. Fingerhut R. Franzson L. Groselj U. Hougaard D. Knapkova M. Kocova M. Kotori V. Kozich V. Kremezna A. Kurkijärvi R. Marca G.L. Mikelsaar R. Milenkovic T. Mitkin V. Moldovanu F. Ceglarek U. O’Grady L. Oltarzewski M. Pettersen R.D. Ramadza D. Salimbayeva D. Samardzic M. Shamsiddinova M. Songailiené J. Szatmari I. Tabatadze N. Tezel B. Toromanovic A. Tovmasyan I. Usurelu N. Vevere P. Vilarinho L. Vogazianos M. Yahyaoui R. Zeyda M. Schielen P.C.J.I.
March 2021MDPI
International Journal of Neonatal Screening
2021#7Issue 1
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.
Congenital endocrine disorders , Congenital metabolic disorders , Dried blood spot screening , International society for neonatal screening , ISNS , Neonatal screening , Newborn screening , Public health , Rare diseases
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International Society for Neonatal Screening (ISNS) Office, Bilthoven, 3721CK, Netherlands
Department of Newborn Screening, Institute of Child Health, Athens, 11527, Greece
Centre for Inherited Metabolic Diseases, Karolinska University Hospital, Department of Molecular Medicine and Surgery, Karolinska Institute, Stockholm, SE-17 76, Sweden
Newborn Screening Laboratories, Tel-HaShomer, Ramat Gan, 52621, Israel
CHU-Domaine du Sart Tilman, Liège, 4000, Belgium
Sheffield Children’s NHS Foundation Trust, Sheffield, S10 2TH, United Kingdom
Laboratoire National de Santé, Dudelange, 3555, Luxembourg
Mater Dei Hospital, Tal-Qroqq Msida, Msida, MSD2090, Malta
Groupement Hospitalier Est, Bron, 69500, France
Centre for Population Research, National Institue for Public Health and the Environment (RIVM), Bilthoven, 3720BA, Netherlands
National Genetic Laboratory, Hospital Maichin Dom, Sofia, 1431, Bulgaria
Neonatal Screening Laboratory, Children’s Hospital, Zürich, CH-8032, Switzerland
Department Genetics & Molecular Medicine, Landspitali, Reykjavik, 108, Iceland
University Children’s Hospital, Ljubljana, 1000, Slovenia
Staten Serum Institute, Copenhagen, 2300, Denmark
Newborn Screening Centre, Banska Bystrica, 97401, Slovakia
Medical Faculty, Skopje, 1000, North Macedonia
University Clinical Centre, Pristina, 10000, Serbia
Department of Pediatrics and Inherited Metabolic Disorders, Charles University, First Faculty of Medicine and General University Hospital, Prague, 12808, Czech Republic
Clinical and Diagnostic Center “Pharmbiotest”, LLC, Rubizhne, 93000, Ukraine
Newborn Screening Centre, Turku University Hospital, Turku, 20521, Finland
Meyer Hospital, Florence, 50139, Italy
Medical Faculty, University of Tartu, Tart, 50411, Estonia
Mother and Child Health Care Institute of Serbia, Belgrade, 11070, Serbia
Neonatal Screening Center, Moscow, 115580, Russian Federation
National Institute for Mother and Child Health, Bucharest, 050474, Romania
University Clinic, Leipzig, 04103, Germany
Newborn Blood Spot Screening Laboratory, Dublin 1, Ireland
Institute of Mother and Child, Warsaw, 01-211, Poland
Norwegian National Unit for Newborn Screening, Oslo, 0424, Norway
University Hospital Medical Centre Zagreb, Zagreb, 10000, Croatia
Republican Scientific Centre for Gynaecology and Perinatology, Almaty, 050020, Kazakhstan
Institute for Sick Children, Podgorica, 81000, Montenegro
Republican Center Mother and Child Screening, Tashkent, 100164, Uzbekistan
Centre for Medical Genetics, Vilnius, 08661, Lithuania
Children’s Clinic, Budapest, 1083, Hungary
NeugoGenetic and Metabolic Center, Tbilisi, 0194, Georgia
Child and Adolescent Health Department, Ankara, 06430, Turkey
Department of Pediatrics, University Clinical Centre, Tuzla, 75000, Bosnia and Herzegovina
Arbes Health Care Centre, Yerevan, 0014, Armenia
National Centre Health and Reproductive & Medical Genetics, Chisinau, 2062, Moldova
Children’s University Hospital, Riga, 1004, Latvia
National Institute of Health, Porto, 4000-055, Portugal
Center for Preventive Paediatrics, Limassol, 3022, Cyprus
Málaga Regional University Hospital, Institute of Biomedical Research IBIMA, Málaga, 29011, Spain
Department of Pediatrics and Adolescent Medicine, Vienna, 1090, Austria
International Society for Neonatal Screening (ISNS) Office
Department of Newborn Screening
Centre for Inherited Metabolic Diseases
Newborn Screening Laboratories
CHU-Domaine du Sart Tilman
Sheffield Children’s NHS Foundation Trust
Laboratoire National de Santé
Mater Dei Hospital
Groupement Hospitalier Est
Centre for Population Research
National Genetic Laboratory
Neonatal Screening Laboratory
Department Genetics & Molecular Medicine
University Children’s Hospital
Staten Serum Institute
Newborn Screening Centre
Medical Faculty
University Clinical Centre
Department of Pediatrics and Inherited Metabolic Disorders
Clinical and Diagnostic Center “Pharmbiotest”
Newborn Screening Centre
Meyer Hospital
Medical Faculty
Mother and Child Health Care Institute of Serbia
Neonatal Screening Center
National Institute for Mother and Child Health
University Clinic
Newborn Blood Spot Screening Laboratory
Institute of Mother and Child
Norwegian National Unit for Newborn Screening
University Hospital Medical Centre Zagreb
Republican Scientific Centre for Gynaecology and Perinatology
Institute for Sick Children
Republican Center Mother and Child Screening
Centre for Medical Genetics
Children’s Clinic
NeugoGenetic and Metabolic Center
Child and Adolescent Health Department
Department of Pediatrics
Arbes Health Care Centre
National Centre Health and Reproductive & Medical Genetics
Children’s University Hospital
National Institute of Health
Center for Preventive Paediatrics
Málaga Regional University Hospital
Department of Pediatrics and Adolescent Medicine
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