ArticleInternational journal of neonatal screening2020
Two-Tiered Newborn Screening with Post-Analytical Tools for Pompe Disease and Mucopolysaccharidosis Type I Results in Performance Improvement and Future Direction.
Article 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 22 papers.
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Who cites it
22 citing papers in PubMed, 33 citations in OpenAlex.
- Beyond Detection: Comparing State-Based Newborn Screening Methods for Effective Mucopolysaccharidosis I Diagnosis.International journal of neonatal screening · 2026Article
- Global variations in diagnostic methods and epidemiological estimates in Pompe disease: findings from a scoping review.Orphanet journal of rare diseases · 2025Article
- Newborn screening and rapid genomic diagnosis of neuromuscular diseases.Journal of neuromuscular diseases · 2025Review
- A study to identify individuals at risk to be affected by late-onset Pompe disease who had previously been given a non-specific or tentative diagnosis for their muscle weakness (Pompe PURSUE).Orphanet journal of rare diseases · 2025Article
- Current Status of Newborn Bloodspot Screening Worldwide 2024: A Comprehensive Review of Recent Activities (2020-2023).International journal of neonatal screening · 2024Review
- Application of tandem mass spectrometry in the screening and diagnosis of mucopolysaccharidoses.Orphanet journal of rare diseases · 2024Review
- The Importance of Early Treatment of Inherited Neuromuscular Conditions.Journal of neuromuscular diseases · 2024Review
- Light and Shadows in Newborn Screening for Lysosomal Storage Disorders: Eight Years of Experience in Northeast Italy.International journal of neonatal screening · 2023Article
- A Comprehensive Update on Late-Onset Pompe Disease.Biomolecules · 2023Review
- Harmonization of Newborn Screening Results for Pompe Disease and Mucopolysaccharidosis Type I.International journal of neonatal screening · 2023Article
- Newborn screening for Pompe disease in Italy: Long-term results and future challenges.Molecular genetics and metabolism reports · 2022Article
- A rapid and non-invasive proteomic analysis using DBS and buccal swab for multiplexed second-tier screening of Pompe disease and Mucopolysaccharidosis type I.Molecular genetics and metabolism · 2022Article
- Newborn screening research sponsored by the NIH: From diagnostic paradigms to precision therapeutics.American journal of medical genetics. Part C, Seminars in medical genetics · 2022Article
- Population-Based Screening of Newborns: Findings From the NBS Expansion Study (Part One).Frontiers in genetics · 2022Article
- The future of newborn screening for lysosomal disorders.Neuroscience letters · 2021Article
- Diagnosis of Mucopolysaccharidoses and Mucolipidosis by Assaying Multiplex Enzymes and Glycosaminoglycans.Diagnostics (Basel, Switzerland) · 2021Article
- Carrier frequency and predicted genetic prevalence of Pompe disease based on a general population database.Molecular genetics and metabolism reports · 2021Article
- Neonatal and carrier screening for rare diseases: how innovation challenges screening criteria worldwide.Journal of community genetics · 2021Article
- Neonatal Screening for MPS Disorders in Latin America: A Survey of Pilot Initiatives.International journal of neonatal screening · 2020Review
- Report of Five Years of Experience in Neonatal Screening for Mucopolysaccharidosis Type I and Review of the Literature.International journal of neonatal screening · 2020Article
Corrections and comments
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Authors and funding
6 authors at 2 institutions in 1 country.
Funding
Abstract
We conducted a pilot newborn screening (NBS) study for Pompe disease (PD) and mucopolysaccharidosis type I (MPS I) in the multiethnic population of Georgia. We screened 59,332 infants using a two-tier strategy of flow injection tandem mass spectrometry (FIA-MSMS) enzyme assays. The first tier of testing was a 2-plex assay measuring PD and MPS I enzyme activity, followed by a second-tier test with additional enzymes to improve specificity. Interpretation of results was performed using post-analytical tools created using Collaborative Laboratory Integrated Reports (CLIR). We identified a single case of infantile onset PD, two cases of late onset PD, and one pseudodeficiency. The positive predictive value (PPV) for PD screening during the study was 66.7%. No cases of MPS I were identified during the study period, but there were 2 confirmed cases of pseudodeficiency and 6 cases lost to follow up. The two-tier screening strategy was successful in reducing false positive results and allowed for the identification and early treatment of a case of infantile PD but the frequency of pseudodeficiency in MPS I is problematic. Molecular testing is required and should be covered by the screening program to avoid delays in case resolution.
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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.