ArticleJournal of inherited metabolic disease2010
Four years of expanded newborn screening in Portugal with tandem mass spectrometry.
Article in Journal of inherited metabolic disease, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 48 papers, 3 of them syntheses that pooled it.
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Who cites it
48 citing papers in PubMed, 3 syntheses or guidelines pooled it, 96 citations in OpenAlex.
- Birth prevalence of phenylalanine hydroxylase deficiency: a systematic literature review and meta-analysis.Orphanet journal of rare diseases · 2021Pooled it
- Systematic literature review and meta-analysis on the epidemiology of methylmalonic acidemia (MMA) with a focus on MMA caused by methylmalonyl-CoA mutase (mut) deficiency.Orphanet journal of rare diseases · 2019Pooled it
- Systematic literature review and meta-analysis on the epidemiology of propionic acidemia.Orphanet journal of rare diseases · 2019Pooled it
- Brain morphometry and cognition in late-onset glutaric aciduria type 1: scoping review and novel insights from a case report.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2026Article
- Newborn screening for inherited metabolic disorders in central China: a retrospective study of 153,956 infants using non-derivatized tandem mass spectrometry.Scientific reports · 2025Article
- Tandem mass spectrometry in screening for inborn errors of metabolism: comprehensive bibliometric analysis.Frontiers in pediatrics · 2025Review
- A newborn Screening Programme for Inborn errors of metabolism in Galicia: 22 years of evaluation and follow-up.Orphanet journal of rare diseases · 2024Article
- Portuguese Neonatal Screening Program: A Cohort Study of 18 Years Using MS/MS.International journal of neonatal screening · 2024Article
- Case report: Two siblings with very late onset of holocarboxylase synthase deficiency and a mini-review.Frontiers in genetics · 2024Article
- Incidence and genetic variants of inborn errors of metabolism identified through newborn screening: A 7-year study in eastern coastal areas of China.Molecular genetics & genomic medicine · 2023Article
- Newborn Screening of Primary Carnitine Deficiency: An Overview of Worldwide Practices and Pitfalls to Define an Algorithm before Expansion of Newborn Screening in France.International journal of neonatal screening · 2023Review
- Mitochondrial Fatty Acid β-Oxidation Disorders: From Disease to Lipidomic Studies-A Critical Review.International journal of molecular sciences · 2022Review
- A Simple Flow Injection Analysis-Tandem Mass Spectrometry Method to Reduce False Positives of C5-Acylcarnitines Due to Pivaloylcarnitine Using Reference Ions.Children (Basel, Switzerland) · 2022Article
- Diagnosis of inborn errors of metabolism within the expanded newborn screening in the Madrid region.JIMD reports · 2022Article
- Article
- Screening and follow-up results of fatty acid oxidative metabolism disorders in 608 818 newborns in Jining, Shandong province.Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences · 2021Article
- Neonatal cholestasis: development of a diagnostic decision algorithm from multivariate predictive models.European journal of pediatrics · 2021Article
- Phenylketonuria in Portugal: Genotype-phenotype correlations using molecular, biochemical, and haplotypic analyses.Molecular genetics & genomic medicine · 2021Article
- Spectrum Analysis of Inherited Metabolic Disorders for Expanded Newborn Screening in a Central Chinese Population.Frontiers in genetics · 2021Article
- [Evaluation and perspective of 20 years of neonatal screening in Galicia. Program results.]Revista espanola de salud publica · 2020Article
Corrections and comments
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Authors and funding
7 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
introductionThe Portuguese Neonatal Screening Programme (PNSP) was started in 1979 for phenylketonuria (2,590,700 newborns screened; prevalence 1:11,031) and, shortly after, for congenital hypothyroidism (2,558,455 newborns screened; prevalence 1:3,174). In 2004, expanded neonatal screening was implemented in the National Laboratory. The programme is not mandatory and has 99.8% coverage of the country (including Madeira and the Azores islands). MATERIAL AND
methodsIn the past 4 years, 316,243 neonates were screened with the use of tandem mass spectrometry (MS/MS) to test for selected amino acids and acylcarnitines.
resultsDuring this time, 132 patients were identified with 24 different inherited metabolic diseases (classic forms and variants). To date, the global frequency for all disorders integrated into the PNSP is estimated to be 1:1,380, with 1:2,396 for metabolic disorders. A total of 379 tests (0.12%) were classified as having false positive results, yielding an overall specificity of 99.9%. Despite the low frequency of several disorders, the positive predictive value of the overall MS/MS screening was found to be 26%, reflecting high diagnostic specificity of the method. Diagnostic sensitivity of extended screening for the different groups of disorders was 100%. Eight cases of maternal disorders [three glutaric aciduria type I, one carnitine transporter defect, and four 3-methylcrotonyl coenzyme A (CoA) carboxylase deficiency] were also detected through newborn screening.
conclusionsOur data support the advantage of a centralised laboratory for screening an elevated number of samples and making decisions if relying on a clinical network able to provide fast treatment and a good outcome in the screened cases.
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