Neonatal screening in Austria. Current situation, new developments and future perspectives

O. A. Bodamer, D. Möslinger, A. Mühl, Sylvia Stöckler-Ipsiroglu

Research output: Contribution to journalArticle

6 Citations (Scopus)

Abstract

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 languageEnglish
Pages (from-to)539-549
Number of pages11
JournalPadiatrische Praxis
Volume61
Issue number4
StatePublished - Jan 1 2002

Fingerprint

Neonatal Screening
Austria
Newborn Infant
Tandem Mass Spectrometry
Biotinidase Deficiency
Galactosemias
Congenital Hypothyroidism
Congenital Adrenal Hyperplasia
Phenylketonurias
Cystic Fibrosis
Fatty Acids
Amino Acids
Therapeutics

Keywords

  • Genetic disorders
  • Population screening
  • Prevention

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

Cite this

Bodamer, O. A., Möslinger, D., Mühl, A., & Stöckler-Ipsiroglu, S. (2002). Neonatal screening in Austria. Current situation, new developments and future perspectives. Padiatrische Praxis, 61(4), 539-549.

Neonatal screening in Austria. Current situation, new developments and future perspectives. / Bodamer, O. A.; Möslinger, D.; Mühl, A.; Stöckler-Ipsiroglu, Sylvia.

In: Padiatrische Praxis, Vol. 61, No. 4, 01.01.2002, p. 539-549.

Research output: Contribution to journalArticle

Bodamer, OA, Möslinger, D, Mühl, A & Stöckler-Ipsiroglu, S 2002, 'Neonatal screening in Austria. Current situation, new developments and future perspectives', Padiatrische Praxis, vol. 61, no. 4, pp. 539-549.
Bodamer OA, Möslinger D, Mühl A, Stöckler-Ipsiroglu S. Neonatal screening in Austria. Current situation, new developments and future perspectives. Padiatrische Praxis. 2002 Jan 1;61(4):539-549.
Bodamer, O. A. ; Möslinger, D. ; Mühl, A. ; Stöckler-Ipsiroglu, Sylvia. / Neonatal screening in Austria. Current situation, new developments and future perspectives. In: Padiatrische Praxis. 2002 ; Vol. 61, No. 4. pp. 539-549.
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