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Journal of Inherited Metabolic Disease

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01.12.2010 | Research Report

Four years of expanded newborn screening in Portugal with tandem mass spectrometry

verfasst von: Laura Vilarinho, Hugo Rocha, Carmen Sousa, Ana Marcão, Helena Fonseca, Mário Bogas, Rui Vaz Osório

Erschienen in: Journal of Inherited Metabolic Disease | Sonderheft 3/2010

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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.

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Portuguese Neonatal Screening Homepage: http://www.diagnosticoprecoce.org

International Society for Neonatal Screening: http://www.isns-neoscreening.org

Titel: Four years of expanded newborn screening in Portugal with tandem mass spectrometry
verfasst von: Laura Vilarinho
Hugo Rocha
Carmen Sousa
Ana Marcão
Helena Fonseca
Mário Bogas
Rui Vaz Osório
Publikationsdatum: 01.12.2010
Verlag: Springer Netherlands
Erschienen in: Journal of Inherited Metabolic Disease / Ausgabe Sonderheft 3/2010
Print ISSN: 0141-8955
Elektronische ISSN: 1573-2665
DOI: https://doi.org/10.1007/s10545-010-9048-z

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Abstract

Introduction

Material and methods

Results

Conclusions

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