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J Perinat Med. 2014 Mar;42(2):151-8. doi: 10.1515/jpm-2013-0113.

Austrian Newborn Screening Program: a perspective of five decades.


In 1966, the National Austrian Newborn Screening Program for inherited metabolic and endocrine disorders was initiated. In the last five decades, around four million babies were screened and in more than 2600 babies, various inborn errors of metabolism and endocrine disorders were detected. This health-preventive program was continuously expanded from phenylketonuria and galactosemia to congenital hypothyroidism, biotinidase deficiency, cystic fibrosis, and congenital adrenal hyperplasia. In 2002, the introduction of tandem mass spectrometry substantially increased the number of detectable rare diseases, and now includes disorders of fatty acid oxidation, organic acidurias, and various disorders of amino acid metabolism. In this review, we highlight the development of the Austrian screening program, and pinpoint future disorders and challenges.

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