The national Austrian newborn screening program - eight years experience with mass spectrometry. past, present, and...

the National Austrian Newborn Screening Program for inherited metabolic and endocrinologic disorders was introduced in 1966. The program continuously evolved by expanding the screening panel from phenylketonuria and galactosemia to congenital hypothyroidism, biotinidase deficiency, cystic fibrosis, and congenital adrenal hyperplasia. In 2002, the introduction of tandem mass spectrometry (MS/MS) substantially increased the number of detectable inborn errors of metabolism and now includes disorders of fatty acid oxidation, organic acidurias and various disorders of amino acid metabolism.

in this study we report our eight years experience with MS/MS in Austria and give an overview of the incidence of diseases, organization, updates on methods and current development and future aspects.

a total of 622,489 newborns were screened by MS/MS for more than 20 diseases in Austria between April 2002 and December 2009. Dried blood spot samples were collected and sent to the National Laboratory for Newborn Screening located at the Medical University of Vienna, Vienna, Austria.

The resulting overall prevalence of inherited metabolic disorder identified by MS/MS was 1:2855, including 125 newborns with amino acidemias (1:4,980), 46 with organic acidurias (1:13,532), and 47 with fatty acid oxidation disorders (1:13,244).

the introduction of MS/MS technology in Austria significantly increased the detection of inherited metabolic disorders that were previously not covered. A primary goal is the continuous effort by developing second-tier strategies with the inclusion of more specific markers in order to minimize the risk of false-negatives and to improve the positive predictive value of screening results. Early recognition of these disorders enables diagnosis and treatment before the onset of symptoms.