The National Austrian Newborn Screening Program – Eight years experience with mass spectrometry. Past, present, and future goals

  title={The National Austrian Newborn Screening Program – Eight years experience with mass spectrometry. Past, present, and future goals},
  author={David C Kasper and Rene Ratschmann and Thomas F. Metz and Thomas P. Mechtler and Dorothea M{\"o}slinger and Vassiliki Konstantopoulou and Chike Bellarmine Item and Arnold Pollak and Kurt R. Herkner},
  journal={Wiener klinische Wochenschrift},
ZusammenfassungHINTERGRUND: Im Jahre 1966 wurde das österreichweite Neugeborenen Screening Programm zur Erkennung von angeborenen Stoffwechselerkrankungen und endokrinen Störungen eingeführt. Die Liste der gescreenten Erkrankungen wurde sukzessive erweitert und umfasst neben der Phenylketonurie und Galaktosämie, auch angeborene Hypothyreose, Biotinidasedefizienz, Cystische Fibrose und Adrenogenitales Syndrom. Im Jahre 2002 wurde die Tandem Massenspektrometrie (MS/MS) eingeführt. Somit konnte… 
Österreichisches Neugeborenen-Screening – Früherkennung von Vitamin-B12-Mangel im Fokus
Das österreichische Neugeborenen-Screening ist seit mehr als 50 Jahren eine sehr erfolgreiche Errungenschaft der Präventivmedizin und wird kontinuierlich an die Entwicklungen von Diagnostika,
100 years of inherited metabolic disorders in Austria—A national registry of minimal birth prevalence, diagnosis, and clinical outcome of inborn errors of metabolism in Austria between 1921 and 2021
The registry research aimed to update the data of the “Registry for Inherited Metabolic Disorders” started between 1985 and 1995 with retrospectively retrieved data on patients with IMDs according to the Society for the Study of Inborn Errors of Metabolism International Classification of Diseases 11 (SSIEM ICD11) catalogue.
Austrian Newborn Screening Program: a perspective of five decades
This review highlights the development of the Austrian screening program, and pinpoint future disorders and challenges, and introduces tandem mass spectrometry, which substantially increased the number of detectable rare diseases.
Cost-effectiveness analysis of universal newborn screening for medium chain acyl-CoA dehydrogenase deficiency in France
It is concluded that the expansion of the French newborn screening programme to include Medium chain acyl-CoA dehydrogenase deficiency (MCADD) would appear to be cost-effective.
Newborn Screening and Diagnosis of Inborn Errors of Metabolism: A 5-year Study in An Eastern Chinese Population.
Expanded Newborn Screening for Inborn Errors of Metabolism by Tandem Mass Spectrometry in Suzhou, China: Disease Spectrum, Prevalence, Genetic Characteristics in a Chinese Population
Almost 90 reported mutations and 51 novel mutations in 25 IMEs-associated genes were detected in 138 patients with one of 22 IEMs, and these mutational hotspots could be potential candidates for gene screening and these novel mutations expanded the mutational spectrum of I EMs.
Genetic characteristics and follow-up of patients with fatty acid β-oxidation disorders through expanded newborn screening in a Northern Chinese population
It is indicated that FAODs are relatively common in Tianjin and may even cause infant death in certain cases and the elucidated disease spectrum and genetic backgrounds elucidated in this study may contribute to the treatment and prenatal genetic counseling ofFAODs.


National academy of clinical biochemistry laboratory medicine practice guidelines: follow-up testing for metabolic disease identified by expanded newborn screening using tandem mass spectrometry; executive summary.
Guidelines are provided for optimal follow-up testing for positive newborn screens using tandem mass spectrometry based on guidelines adopted from criteria derived from the US Preventive Services Task Force and on the strength of recommendations and the quality of the evidence.
Expanded newborn screening for inborn errors of metabolism by electrospray ionization-tandem mass spectrometry: results, outcome, and implications.
The screening by MS/MS for up to 23 additional disorders has approximately doubled the detection rate compared with that achieved by the conventional methods used in Germany.
Progress in expanded newborn screening for metabolic conditions by LC-MS/MS in Tuscany: Update on methods to reduce false tests
Adjustments to cut-off values, the introduction of a second-tier test for propionic acidaemia and for methylmalonic aciduria, the inclusion of succinylacetone in the panel of metabolites, and protocols for premature infants and for newborns on parenteral nutrition or transfused resulted in a reduction in recalls.
Screening newborns for inborn errors of metabolism by tandem mass spectrometry.
More cases of inborn errors of metabolism are diagnosed by screening with tandem mass spectrometry than are diagnosed clinically, and which patients with disorders diagnosed by such screening would have become symptomatic if screening had not been performed.
Use of tandem mass spectrometry for multianalyte screening of dried blood specimens from newborns.
Multianalyte technologies such as MS/MS are suitable for newborn screening and other mass screening programs because they improve the detection of many diseases in the current screening panel while enabling expansion to disorders that are now recognized as important and need to be identified in pediatric medicine.
The changing face of newborn screening: diagnosis of inborn errors of metabolism by tandem mass spectrometry.
  • P. Jones, M. Bennett
  • Medicine
    Clinica chimica acta; international journal of clinical chemistry
  • 2002
Direct multiplex assay of lysosomal enzymes in dried blood spots for newborn screening.
A multiplex screening method for all five lysosomal enzymes that uses newborn-screening cards containing dried blood spots as the enzyme source that can be readily automated, and the anticipated reagent and supply costs are well within the budget limits of newborn- Screening centers.
Implementation of newborn screening for Krabbe disease: population study and cutoff determination.