ArticleInternational journal of neonatal screening2021
Neonatal Screening in Europe Revisited: An ISNS Perspective on the Current State and Developments Since 2010.
Article in International journal of neonatal screening, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 150 papers, 2 of them syntheses that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
150 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- Preferences, attitudes and views regarding genetic newborn screening (gNBS) for rare diseases: a systematic review of the literature and synthesis from 2009 to 2022.Orphanet journal of rare diseases · 2026Pooled it
- Characterisation and differential diagnosis of neurological complications in adults with phenylketonuria: literature review and expert opinion.Journal of neurology · 2023Pooled it
- Parental experience and information needs following a positive newborn screening test-based neonatal diagnosis of a chronic condition: an integrative review.International journal of nursing studies advances · 2026Review
- Revolutionizing neonatal health: India's journey from assays to advanced genetics.Journal of applied genetics · 2026Review
- Patient- and Caregiver-Reported Experiences of Rare Diseases in Türkiye: A Patient-Organization-Recruited Online Survey.Journal of clinical medicine · 2026Article
- Features and Legal Practice of Dried Blood Spot Card Biobanking in Europe: Balancing Research Potential with Parental and Children's Rights.International journal of neonatal screening · 2026Article
- A thick opt-out for genomic newborn screening, retention, and reuse of genomic data.European journal of human genetics : EJHG · 2026Article
- Perspectives on genomic newborn screening studies: design, implementation, and outcomes.Pediatric research · 2026Review
- Familial hypercholesterolaemia in children and adolescents: a European Atherosclerosis Society consensus statement.European heart journal · 2026Article
- Universal Dried Blood Spot Screening for Congenital Cytomegalovirus: A Slovenian National Implementation Pilot.International journal of neonatal screening · 2026Article
- Dried blood spot quality in newborn inherited metabolic disease screening in Beijing, 2020-2024: a retrospective analysis of incidence, causes, and improvement strategies.BMC pediatrics · 2026Article
- Genomic newborn screening: data retention for research and clinical reuse.European journal of human genetics : EJHG · 2026Article
- Detection of AdenoviralInternational journal of molecular sciences · 2026Article
- Review
- Current Status of Newborn Screening in Southeastern and Central Europe.International journal of neonatal screening · 2026Article
- Public and parent perspectives on genomic sequencing in newborn screening: a scoping review.European journal of human genetics : EJHG · 2026Review
- Quantitative assessment of neonatal health using dried blood spot metabolite profiles and deep learning.Science translational medicine · 2026Article
- Integrating the Genomic Revolution into Newborn Screening: Current Challenges and Future Perspectives.Pediatric reports · 2026Review
- Parent Experience and Attitudes Towards Newborn Bloodspot Screening in Ireland.International journal of neonatal screening · 2026Article
- The Role of Immune Markers in Predicting Infectious Complications in Children with Congenital Heart Defects.Current pediatric reviews · 2026Review
90 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
47 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
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.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.