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Licensed Unlicensed Requires Authentication Published by De Gruyter November 13, 2013

Austrian Newborn Screening Program: a perspective of five decades

  • Arnold Pollak and David C. Kasper EMAIL logo

Abstract

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.


Corresponding author: Assoc.-Prof. David C. Kasper, PhD, Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, Währinger Gürtel 18-20, 1090 Vienna, Austria, Tel.: +43-1-40400-2756, Fax: +43-1-40400-3200, E-mail:

Acknowledgments

We are grateful for the work being done by all staff members of the secretary and laboratory of the Austrian Newborn Screening Program, as well as all physicians, midwives, nurses, dietitians, laboratories, and many more involved in newborn screening and their continuous enthusiastic support. We thank the families who entrusted us with the care of their infants, and all patient advocacies groups, and the Working Groups of the Austrian Society of Pediatrics and Adolescent Medicine. We thank the Federal Ministry of Health, Ministry of Science, Austrian Social Security Organizations as well as the Medical University of Vienna for financial and logistic support of the nationwide program.

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The authors stated that there are no conflicts of interest regarding the publication of this article.

Received: 2013-5-23
Accepted: 2013-10-9
Published Online: 2013-11-13
Published in Print: 2014-3-1

©2014 by Walter de Gruyter Berlin Boston

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