Literature DB >> 22451084

[Newborn screening as a predictive genetic test: principles and challenges].

Johannes Zschocke1.   

Abstract

Universal newborn screening for a range of mostly inherited metabolic and endocrine disorders, started in mid-1960ies, is a success story of preventive medicine. New technological advances particularly in the last 10-15 years have led to an expansion of newborn screening in many countries. This has allowed introduction of sometimes life-saving preventive measures in more children, but it has also become more obvious that screening may not be prudent for all conditions in which it is technically feasible. The present article provides criteria that have been used or discussed for the inclusion of "new" disorders in newborn screening programs, and highlights exemplary metabolic disorders that illustrate imminent challenges. In order to secure long-term acceptance of universal newborn screening within the society, its aims and contents should be determined through a transparent decision finding process. This may best be achieved through the establishment of a representative newborn screening advisory board.

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Mesh:

Year:  2012        PMID: 22451084     DOI: 10.1007/s10354-012-0062-7

Source DB:  PubMed          Journal:  Wien Med Wochenschr        ISSN: 0043-5341


  23 in total

1.  3-Methylglutaconic aciduria type I: clinical heterogeneity as a neurometabolic disease.

Authors:  Y Shoji; T Takahashi; Y Sawaishi; A Ishida; M Matsumori; Y Shoji; M Enoki; H Watanabe; G Takada
Journal:  J Inherit Metab Dis       Date:  1999-02       Impact factor: 4.982

Review 2.  New technologies extend the scope of newborn blood-spot screening, but old problems remain unresolved.

Authors:  Rodney J Pollitt
Journal:  Acta Paediatr       Date:  2010-12       Impact factor: 2.299

3.  Newborn screening: toward a uniform screening panel and system--executive summary.

Authors: 
Journal:  Pediatrics       Date:  2006-05       Impact factor: 7.124

4.  Newborn screening for Krabbe disease: the New York State model.

Authors:  Patricia K Duffner; Michele Caggana; Joseph J Orsini; David A Wenger; Marc C Patterson; Carl J Crosley; Joanne Kurtzberg; Georgianne L Arnold; Maria L Escolar; Darius J Adams; Mary R Andriola; Alan M Aron; Emma Ciafaloni; Alexandra Djukic; Richard W Erbe; Patricia Galvin-Parton; Laura E Helton; Edwin H Kolodny; Barry E Kosofsky; David F Kronn; Jennifer M Kwon; Paul A Levy; Jill Miller-Horn; Thomas P Naidich; Joan E Pellegrino; James M Provenzale; Stanley J Rothman; Melissa P Wasserstein
Journal:  Pediatr Neurol       Date:  2009-04       Impact factor: 3.372

5.  The lure of treatment: expanded newborn screening and the curious case of histidinemia.

Authors:  Jeffrey P Brosco; Lee M Sanders; Robin Dharia; Ghislaine Guez; Chris Feudtner
Journal:  Pediatrics       Date:  2010-02-15       Impact factor: 7.124

Review 6.  Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: a global perspective.

Authors:  William J Rhead
Journal:  J Inherit Metab Dis       Date:  2006 Apr-Jun       Impact factor: 4.982

7.  Spectrum of medium-chain acyl-CoA dehydrogenase deficiency detected by newborn screening.

Authors:  Ho-Wen Hsu; Thomas H Zytkovicz; Anne Marie Comeau; Arnold W Strauss; Deborah Marsden; Vivian E Shih; George F Grady; Roger B Eaton
Journal:  Pediatrics       Date:  2008-05       Impact factor: 7.124

Review 8.  Clinical aspects of short-chain acyl-CoA dehydrogenase deficiency.

Authors:  Bianca T van Maldegem; Ronald J A Wanders; Frits A Wijburg
Journal:  J Inherit Metab Dis       Date:  2010-04-29       Impact factor: 4.982

9.  Decreasing uptake of predictive testing for Huntington's disease in a German centre: 12 years' experience (1993-2004).

Authors:  Christiane Bernhardt; Anne-Marie Schwan; Peter Kraus; Joerg Thomas Epplen; Erdmute Kunstmann
Journal:  Eur J Hum Genet       Date:  2008-09-10       Impact factor: 4.246

10.  Newborn screening: toward a uniform screening panel and system.

Authors: 
Journal:  Genet Med       Date:  2006-05       Impact factor: 8.822

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