ArticleInternational journal of neonatal screening2024
Portuguese Neonatal Screening Program: A Cohort Study of 18 Years Using MS/MS.
Article 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 6 papers.
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Who cites it
6 citing papers in PubMed, 7 citations in OpenAlex.
- Two Years of Expanded Newborn Screening in Russia: High-Throughput Detection of Inherited Metabolic Disorders by Tandem Mass Spectrometry with Next-Generation Sequencing Confirmation.International journal of neonatal screening · 2026Article
- A 25-Year Retrospective on Bavaria's Newborn Screening Programme: Achievements, Challenges and Long-Term Follow-Up.International journal of neonatal screening · 2025Article
- Medium-Chain Acyl-CoA Dehydrogenase Deficiency (MCADD) Newborn Screening in Italy: Five Years' Experience from a Nationwide Program.International journal of neonatal screening · 2025Article
- Urgent need for newborn targeted sequencing screening technology in Shandong Province, China.World journal of pediatrics : WJP · 2025Article
- Early-Onset Inherited Metabolic Diseases: When Clinical Symptoms Precede Newborn Screening-Insights from Emilia-Romagna (Italy).Children (Basel, Switzerland) · 2025Article
- Current Status of Newborn Bloodspot Screening Worldwide 2024: A Comprehensive Review of Recent Activities (2020-2023).International journal of neonatal screening · 2024Review
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Authors and funding
7 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The Portuguese Neonatal Screening Program (PNSP) conducts nationwide screening for rare diseases, covering nearly 100% of neonates and screening for 28 disorders, including 24 inborn errors of metabolism (IEMs). The study's purpose is to assess the epidemiology of the screened metabolic diseases and to evaluate the impact of second-tier testing (2TT) within the PNSP. From 2004 to 2022, 1,764,830 neonates underwent screening using tandem mass spectrometry (MS/MS) to analyze amino acids and acylcarnitines in dried blood spot samples. 2TT was applied when necessary. Neonates with profiles indicating an IEM were reported to a reference treatment center, and subsequent biochemical and molecular studies were conducted for diagnostic confirmation. Among the screened neonates, 677 patients of IEM were identified, yielding an estimated birth prevalence of 1:2607 neonates. The introduction of 2TT significantly reduced false positives for various disorders, and 59 maternal cases were also detected. This study underscores the transformative role of MS/MS in neonatal screening, emphasizing the positive impact of 2TT in enhancing sensitivity, specificity, and positive predictive value. Our data highlight the efficiency and robustness of neonatal screening for IEM in Portugal, contributing to early and life-changing diagnoses.
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Registered trials
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