ReviewInternational journal of neonatal screening2022
Towards Achieving Equity and Innovation in Newborn Screening across Europe.
Review in International journal of neonatal screening, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers, 1 of them a synthesis 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
28 citing papers in PubMed, 1 synthesis or guideline pooled it, 34 citations in OpenAlex.
- 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
- Clinical and biochemical footprints of inherited metabolic disorders: XIX. Hypoglycemia.Molecular genetics and metabolism · 2026Review
- Universal Dried Blood Spot Screening for Congenital Cytomegalovirus: A Slovenian National Implementation Pilot.International journal of neonatal screening · 2026Article
- European Reference Networks - a flagship activity of the EU in the field of rare and complex diseases: from 2017 to 2025.Orphanet journal of rare diseases · 2026Review
- Current Status of Newborn Screening in Southeastern and Central Europe.International journal of neonatal screening · 2026Article
- Integrating the Genomic Revolution into Newborn Screening: Current Challenges and Future Perspectives.Pediatric reports · 2026Review
- Newborn screening for fatty acid oxidation disorders: epidemiological and genetic findings in Southeastern China.BMC pediatrics · 2025Article
- The new newborn screening.Nature medicine · 2025Article
- International Survey on Phenylketonuria Newborn Screening.International journal of neonatal screening · 2025Article
- Non-Uptake of Newborn Screening in Planned Homebirth Is Associated with Preventive Health Practices for Infants: A Retrospective Case-Control Study.International journal of neonatal screening · 2025Article
- Sudden Death of a Four-Day-Old Newborn Due to Mitochondrial Trifunctional Protein/Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiencies and a Systematic Literature Review of Early Deaths of Neonates with Fatty Acid Oxidation Disorders.International journal of neonatal screening · 2025Review
- Combined biochemical profiling and DNA sequencing in the expanded newborn screening for inherited metabolic diseases: the experience in an Italian reference center.Orphanet journal of rare diseases · 2025Article
- Wilson and Jungner Revisited: Are Screening Criteria Fit for the 21st Century?International journal of neonatal screening · 2024Review
- The Multi-Omic Approach to Newborn Screening: Opportunities and Challenges.International journal of neonatal screening · 2024Review
- Current Status of Newborn Bloodspot Screening Worldwide 2024: A Comprehensive Review of Recent Activities (2020-2023).International journal of neonatal screening · 2024Review
- Prospective cohort study of genomic newborn screening: BabyScreen+ pilot study protocol.BMJ open · 2024Article
- Perception of genomic newborn screening among peripartum mothers.European journal of human genetics : EJHG · 2024Article
- Up-to-date quality survey and evaluation of neonatal screening programs in China.BMC pediatrics · 2024Article
- Newborn Genetic Screening-Still a Role for Sanger Sequencing in the Era of NGS.International journal of neonatal screening · 2023Article
- Prospects for Expansion of Universal Newborn Screening in Bulgaria: A Survey among Medical Professionals.International journal of neonatal screening · 2023Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
17 authors at 11 institutions in 8 countries.
Funding
Abstract
Although individual rare disorders are uncommon, it is estimated that, together, 6000+ known rare diseases affect more than 30 million people in Europe, and present a substantial public health burden. Together with the psychosocial burden on affected families, rare disorders frequently, if untreated, result in a low quality of life, disability and even premature death. Newborn screening (NBS) has the potential to detect a number of rare conditions in asymptomatic children, providing the possibility of early treatment and a significantly improved long-term outcome. Despite these clear benefits, the availability and conduct of NBS programmes varies considerably across Europe and, with the increasing potential of genomic testing, it is likely that these differences may become even more pronounced. To help improve the equity of provision of NBS and ensure that all children can be offered high-quality screening regardless of race, nationality and socio-economic status, a technical meeting, endorsed by the Slovenian Presidency of the Council of the European Union, was held in October 2021. In this article, we present experiences from individual EU countries, stakeholder initiatives and the meeting's final conclusions, which can help countries attempting to establish new NBS programmes or expand existing provision.
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.