ReviewInternational journal of neonatal screening2024
Current Status of Newborn Bloodspot Screening Worldwide 2024: A Comprehensive Review of Recent Activities (2020-2023).
Review in International journal of neonatal screening, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 95 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
95 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Evaluation of Newborn Screening for Diseases Using C5-OH as a Marker: Systematic Review of the Literature and Evaluation of 17 Years of C5-OH Screening in the Netherlands.Journal of inherited metabolic disease · 2025Pooled it
- Trial
- Laboratory diagnostics in personalised medicine - 36th Symposium of the Croatian society of medical biochemistry and laboratory medicine.Biochemia medica · 2026Review
- Universal newborn screening for G6PD deficiency and severe hyperbilirubinemia at a tertiary center in Jerusalem.Journal of perinatology : official journal of the California Perinatal Association · 2026Article
- Prevalence and penetrance of heritable retinoblastoma in two adult population cohorts: implications for genomic newborn screening.European journal of human genetics : EJHG · 2026Article
- Co-Designing a Provincial Newborn Screening Implementation Framework in Pakistan Using a Sequential Blended Workshop Model.International journal of neonatal screening · 2026Article
- Classical Homocystinuria Incidentally Diagnosed Following a Normal Newborn Screening Result.International journal of neonatal screening · 2026Article
- Revolutionizing neonatal health: India's journey from assays to advanced genetics.Journal of applied genetics · 2026Review
- Potential for Genomics to Help Guide Preventive Strategies in Psychiatry.JAMA psychiatry · 2026Article
- Optimizing Informed Consent for Australian Newborn Bloodspot Screening and Research: Consensus Workshop Insights and Recommendations.International journal of neonatal screening · 2026Article
- Bridging Gaps in Newborn Screening: A Comparative Study of Point-of-Care Testing Versus Traditional Reference Laboratory Method for Congenital Hypothyroidism.Journal of the ASEAN Federation of Endocrine Societies · 2026Article
- Who and how we engage: A systemic mapping of stakeholder perspectives on genomic newborn screening.European journal of human genetics : EJHG · 2026Article
- Prevalence, Disease Onset and Clinical Outcome in Arginase 1 Deficiency: Cross-Border Surveillance in Germany, Austria, and Switzerland.Journal of inherited metabolic disease · 2026Article
- Unveiling clinical and genetic landscapes of MMA and CBS: insights from whole exome sequencing in a tertiary care setting.Pediatric research · 2026Article
- Neonatal Acute Liver Failure due to Citrin Deficiency (NALFCD).JIMD reports · 2026Article
- Genomic sequencing and the urgency of early diagnosis in inborn errors of metabolism.Pediatric research · 2026Article
- How parents decide whether to have genomic newborn screening: experiences from BabyScreen.European journal of human genetics : EJHG · 2026Article
- Ethical, Legal, and Social Implications of Newborn Screening in Africa: A Scoping Review.International journal of neonatal screening · 2026Review
- Next-generation newborn screening: feasibility of combined genetic and biochemical testing for 95 treatable inherited metabolic disorders.Metabolomics : Official journal of the Metabolomic Society · 2026Review
- Propionic acidemia in Mexico: Clinical and genotypic spectrum.Molecular genetics and metabolism reports · 2026Article
35 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
8 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Newborn bloodspot screening (NBS) began in the early 1960s based on the work of Dr. Robert "Bob" Guthrie in Buffalo, NY, USA. His development of a screening test for phenylketonuria on blood absorbed onto a special filter paper and transported to a remote testing laboratory began it all. Expansion of NBS to large numbers of asymptomatic congenital conditions flourishes in many settings while it has not yet been realized in others. The need for NBS as an efficient and effective public health prevention strategy that contributes to lowered morbidity and mortality wherever it is sustained is well known in the medical field but not necessarily by political policy makers. Acknowledging the value of national NBS reports published in 2007, the authors collaborated to create a worldwide NBS update in 2015. In a continuing attempt to review the progress of NBS globally, and to move towards a more harmonized and equitable screening system, we have updated our 2015 report with information available at the beginning of 2024. Reports on sub-Saharan Africa and the Caribbean, missing in 2015, have been included. Tables popular in the previous report have been updated with an eye towards harmonized comparisons. To emphasize areas needing attention globally, we have used regional tables containing similar listings of conditions screened, numbers of screening laboratories, and time at which specimen collection is recommended. Discussions are limited to bloodspot screening.
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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.