ReviewInternational journal of neonatal screening2020
Development of Strategies to Decrease False Positive Results in Newborn Screening.
Review in International journal of neonatal screening, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 38 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
38 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Psychosocial issues of neonatal screening in the context of its major expansion: a scoping review.Frontiers in psychology · 2025Pooled it
- Preliminary Data of the First Year of Newborn Screening for Metachromatic Leukodystrophy (MLD) in Lombardy.International journal of neonatal screening · 2026Article
- Emerging Quantitative Targeted Metabolomics Approaches for Future Inborn Errors of Metabolism Screening.Diagnostics (Basel, Switzerland) · 2026Review
- Exploring the impact on intrafamilial support systems when newborn screening programmes contact parents with an initial screen positive result.European journal of human genetics : EJHG · 2026Review
- Benchmarking genetic birth prevalence estimates against newborn screening data.American journal of human genetics · 2026Article
- Incorporating Next-Generation Sequencing in Newborn Screening for Organic Acidemias.International journal of neonatal screening · 2026Article
- Benefits and pitfalls in newborn screening for carnitine uptake deficiency: a 4-year single-center experience.Orphanet journal of rare diseases · 2025Article
- Caregivers' Emotional Responses Triggered by a False-Positive VLCADD in Newborn Screening in Oita Prefecture.International journal of neonatal screening · 2025Article
- Propionyl Carnitine Metabolic Profile: Optimizing the Newborn Screening Strategy Through Customized Cut-Offs.Metabolites · 2025Article
- Newborn Screening for Gaucher Disease: The New Jersey Experience.International journal of neonatal screening · 2025Article
- Expanded Newborn Screening in Italy: The First Report of Lombardy Region.International journal of neonatal screening · 2025Article
- Digital-Tier Strategy Improves Newborn Screening for Glutaric Aciduria Type 1.International journal of neonatal screening · 2024Article
- Evaluation of Neonatal Screening Programs for Tyrosinemia Type 1 Worldwide.International journal of neonatal screening · 2024Article
- Current Status of Newborn Bloodspot Screening Worldwide 2024: A Comprehensive Review of Recent Activities (2020-2023).International journal of neonatal screening · 2024Review
- Psychosocial Impact of False-Positive Newborn Screening Results: A Scoping Review.Children (Basel, Switzerland) · 2024Article
- Next-generation sequencing based newborn screening and comparative analysis with MS/MS.BMC pediatrics · 2024Article
- Future of Dutch NGS-Based Newborn Screening: Exploring the Technical Possibilities and Assessment of a Variant Classification Strategy.International journal of neonatal screening · 2024Article
- Determination of Ideal Factors for Early Adoption and Standardization of Metagenomic Next-generation Sequencing for Respiratory System Infections.Current pharmaceutical biotechnology · 2024Article
- Butyrylcarnitine Elevation in Newborn Screening: Reducing False Positives and Distinguishing between Two Rare Diseases through the Evaluation of New Ratios.Biomedicines · 2023Article
- A False-Negative Newborn Screen for Tyrosinemia Type 1-Need for Re-Evaluation of Newborn Screening with Succinylacetone.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
4 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The expansion of national newborn screening (NBS) programmes has provided significant benefits in the diagnosis and early treatment of several rare, heritable conditions, preventing adverse health outcomes for most affected infants. New technological developments have enabled the implementation of testing panel covering over 50 disorders. Consequently, the increment of false positive rate has led to a high number of healthy infants recalled for expensive and often invasive additional testing, opening a debate about the harm-benefit ratio of the expanded newborn screening. The false-positive rate represents a challenge for healthcare providers working in NBS systems. Here, we give an overview on the most commonly used strategies for decreasing the adverse effects due to inconclusive screening results. The focus is on NBS performance improvement through the implementation of analytical methods, the application of new and more informative biomarkers, and by using post-analytical interpretive tools. These strategies, used as part of the NBS process, can to enhance the positive predictive value of the test and reduce the parental anxiety and healthcare costs related to the unnecessary tests and procedures.
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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.