ReviewTranslational pediatrics2014
The evolution of blood-spot newborn screening.
Review in Translational pediatrics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 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
20 citing papers in PubMed, 1 synthesis or guideline pooled it, 29 citations in OpenAlex.
- Prevalence of sight-threatening ocular abnormalities identified by retinal examination in neonates: a systematic review and meta-analysis.BMC pediatrics · 2026Pooled it
- An Investigation of Instability in Dried Blood Spot Samples for Pharmacokinetic Sampling in Phase 3 Trials of Verubecestat.The AAPS journal · 2022Trial
- Progress and Prospects of Newborn Screening in China.International journal of neonatal screening · 2026Review
- An Explorative Qualitative Study of the Role of a Genetic Counsellor to Parents Receiving a Diagnosis After a Positive Newborn Bloodspot Screening.International journal of neonatal screening · 2025Article
- Tandem mass spectrometry in screening for inborn errors of metabolism: comprehensive bibliometric analysis.Frontiers in pediatrics · 2025Review
- Newborn Genomic Sequencing Needs Confirmation but Not Repeating.Children (Basel, Switzerland) · 2024Article
- Counting Conditions on Newborn Bloodspot Screening Panels in Australia and New Zealand.International journal of neonatal screening · 2024Article
- A multicenter prospective study of next-generation sequencing-based newborn screening for monogenic genetic diseases in China.World journal of pediatrics : WJP · 2023Article
- Is Our Newborn Screening Working Well? A Literature Review of Quality Requirements for Newborn Blood Spot Screening (NBS) Infrastructure and Procedures.International journal of neonatal screening · 2023Review
- Defining the Healthy Infant Metabolome: Liquid Chromatography Tandem-Mass Spectrometry Analysis of Dried Blood Spot Extracts from the Prospective Research on Early Determinants of Illness and Children's Health Trajectories Birth Cohort Study.The Journal of pediatrics · 2022Article
- Article
- Informing Parents about Newborn Screening: A European Comparison Study.International journal of neonatal screening · 2021Article
- Review
- Little to Give, Much to Gain-What Can You Do With a Dried Blood Spot?Current environmental health reports · 2020Review
- Newborn screening of mucopolysaccharidoses: past, present, and future.Journal of human genetics · 2020Review
- Animal Model Contributions to Congenital Metabolic Disease.Advances in experimental medicine and biology · 2020Review
- Moral reasons to edit the human genome: picking up from the Nuffield report.Journal of medical ethics · 2019Article
- Application of Next-Generation Sequencing Following Tandem Mass Spectrometry to Expand Newborn Screening for Inborn Errors of Metabolism: A Multicenter Study.Frontiers in genetics · 2019Article
- Multimode smartphone biosensing: the transmission, reflection, and intensity spectral (TRI)-analyzer.Lab on a chip · 2017Article
- Brazilian guidelines for the diagnosis and treatment of cystic fibrosis.Jornal brasileiro de pneumologia : publicacao oficial da Sociedade Brasileira de Pneumologia e TisilogiaArticle
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Over 50 years after the introduction of a blood-spot newborn screening test using the bacterial-inhibition assay (BIA), blood-spot newborn screening has evolved into complex public service scientific programmes. For several decades, many patients with phenylketonuria (PKU), congenital hypothyroidism (CH), cystic fibrosis (CF) and hemoglobinopathy disorders have benefited from early intervention across the world. In the last 20 years, there have been great changes in laboratory techniques and high-throughput data handling meaning that a huge spectrum of disorders can be identified from an increasing population. This coupled with the fact that there are an increasing number of therapies for specific rare disorders mean that health services may become inundated with complex and expensive demands in the future. Some of these issues have been realised in the implementation of multiplex assay such as electrospray tandem mass spectrometry (MSMS) programmes but will be much more exaggerated if genomic sequencing screening becomes a reality. In this context, the core-principles for implementation of newborn screening tests remain as important today as they have in the past when new tests are considered as part of the blood-spot screening programme.
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.