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Portuguese Neonatal Screening Program: A Cohort Study of 18 Years Using MS/MS

2024-03-20Journal article Open access
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dc.contributor.authorGonçalves, Maria Miguel
dc.contributor.authorMarcão, Ana
dc.contributor.authorSousa, Carmen
dc.contributor.authorNogueira, Célia
dc.contributor.authorFonseca, Helena
dc.contributor.authorRocha, Hugo
dc.contributor.authorVilarinho, Laura
dc.contributor.editorScarpa, Maurizio
dc.date.accessioned2025-03-07T12:29:03Z
dc.date.available2025-03-07T12:29:03Z
dc.date.issued2024-03-20
dc.descriptionThis article belongs to the Special Issue Neonatal Screening in Europe: On the Brink of a New Era.
dc.description.abstractThe 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.eng
dc.identifier.citationInt J Neonatal Screen. 2024 Mar 20;10(1):25. doi: 10.3390/ijns10010025
dc.identifier.doi10.3390/ijns10010025
dc.identifier.issn2409-515X
dc.identifier.pmid38535129
dc.identifier.urihttp://hdl.handle.net/10400.18/10420
dc.language.isoeng
dc.peerreviewedyes
dc.publisherMDPI
dc.relation.hasversionhttps://www.mdpi.com/2409-515X/10/1/25
dc.relation.ispartofInternational Journal of Neonatal Screening
dc.rights.uriN/A
dc.subjectNewborn Screening
dc.subjectPortuguese Neonatal Screening Program
dc.subjectInborn Errors of Metabolism (IEM)
dc.subjectSecond-tier Testing (2TT)
dc.subjectGenetic Diseases
dc.subjectDoenças Genéticas
dc.subjectPortugal
dc.titlePortuguese Neonatal Screening Program: A Cohort Study of 18 Years Using MS/MSeng
dc.typejournal article
dspace.entity.typePublication
oaire.citation.issue1
oaire.citation.startPage25
oaire.citation.titleInternational Journal of Neonatal Screening
oaire.citation.volume10
oaire.versionhttp://purl.org/coar/version/c_970fb48d4fbd8a85

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