Nationwide newborn-screening for congenital metabolic and endocrinologic disorders has been implemented in Austria since the late sixties. Newborn-screening is carried out in dry blood spot filter paper samples by the National Screening Laboratory at the University Children's Hospital Vienna. Since 1966, 2,9 million newborns have been screened and more than 1000 children with various treatable disorders have been identified. Presently, screening is provided for 6 disorders including phenylketonuria, congenital hypothyroidism, galactosemia, biotinidase deficiency, congenital adrenal hyperplasia and cystic fibrosis. The spectrum of disorders that is identified will be expanded following the implementation of tandem-mass spectrometry to include disorders of fatty acid oxidation, organic acidurias and various disorders of amino acid metabolism. Starting in 2002 23 different disorders will be identified through the neonatal screening program. Until now, blood samples for screening are taken on day 4-6 of life. Following implementation of tandem-mass spectrometry blood samples should be taken ideally at 48 hours of life. In case of early hospital discharge, the sample is taken at discharge. A second screening is recommended within the first 2 weeks of life. Quality assurance and standardized concepts for diagnosis, treatment and continuous evaluation are prerequisites for the optimal benefit of newborn screening strategies in the future.
|Original language||English (US)|
|Number of pages||11|
|State||Published - Jan 1 2002|
- Genetic disorders
- Population screening
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health