Introducing new screens: Why are we all doing different things?
- 6 July 2007
- journal article
- Published by Wiley in Journal of Inherited Metabolic Disease
- Vol. 30 (4), 423-429
- https://doi.org/10.1007/s10545-007-0647-2
Abstract
The disease panels covered by newborn blood spot screening vary greatly from country to country. There are different interpretations of the Wilson and Jungner principles and of underlying data in the scientific literature, and great disparities between the value judgements applied in screening and in routine clinical practice.This publication has 25 references indexed in Scilit:
- Neonatal screening in Europe; the situation in 2004Journal of Inherited Metabolic Disease, 2007
- Principles and performance: assessing the evidenceActa Paediatrica, 2007
- Executive SummaryGenetics in Medicine, 2006
- Newborn Screening Technology: Proceed With CautionPEDIATRICS, 2006
- Direct multiplex assay of enzymes in dried blood spots by tandem mass spectrometry for the newborn screening of lysosomal storage disordersJournal of Inherited Metabolic Disease, 2006
- ‘Classical’ organic acidurias, propionic aciduria, methylmalonic aciduria and isovaleric aciduria: Long‐term outcome and effects of expanded newborn screening using tandem mass spectrometryJournal of Inherited Metabolic Disease, 2006
- International perspectives on newborn screeningJournal of Inherited Metabolic Disease, 2006
- Screening for lysosomal storage disorders—A clinical perspectiveJournal of Inherited Metabolic Disease, 2005
- Clinical Effectiveness and Cost-Effectiveness of the Use of the Thyroxine/Thyroxine-Binding Globulin Ratio to Detect Congenital Hypothyroidism of Thyroidal and Central Origin in a Neonatal Screening ProgramPEDIATRICS, 2005
- Normal acylcarnitine levels during confirmation of abnormal newborn screening in long‐chain fatty acid oxidation defectsJournal of Inherited Metabolic Disease, 2004