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Please use this identifier to cite or link to this item: http://hdl.handle.net/10400.18/175

Title: Four years of expanded newborn screening in Portugal with tandem mass spectrometry
Authors: Vilarinho, Laura
Rocha, Hugo
Sousa, Carmen
Marcão, Ana
Fonseca, Helena
Bogas, Mário
Osório, Rui Vaz
Keywords: Doenças Genéticas
Issue Date: 23-Feb-2010
Publisher: Springer
Citation: J Inherit Metab Dis. 2010 Feb 23. doi:10.1007/s10545-010-9048-z. [Epub ahead of print]
Abstract: INTRODUCTION: The 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 METHODS: In 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. RESULTS: During 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. CONCLUSIONS: Our 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.
Peer Reviewed: yes
URI: http://hdl.handle.net/10400.18/175
Publisher version: http://www.springerlink.com/content/68732705661765k6/
Appears in Collections:DGH - Artigos em revistas internacionais

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