Fifty years of newborn screening
- 14 January 2015
- journal article
- review article
- Published by Wiley in Journal of Paediatrics and Child Health
- Vol. 51 (1), 103-107
- https://doi.org/10.1111/jpc.12817
Abstract
Newborn screening has evolved fast following recent advances in diagnosis and treatment of disease, particularly the development of multiplex testing and applications of molecular testing. Formal evidence of benefit from newborn screening has been largely lacking, due to the rarity of individual disorders. There are wide international differences in the choice of disorders screened, and ethical issues in both screening and not screening are apparent. More evidence is needed about benefit and harm of screening for specific disorders and renewed discussion about the basic aims of newborn screening must be undertaken.Keywords
This publication has 21 references indexed in Scilit:
- A Markov model to analyze cost-effectiveness of screening for severe combined immunodeficiency (SCID)Molecular Genetics and Metabolism, 2011
- A Multiplex Immunoassay Using the Guthrie Specimen to Detect T-Cell Deficiencies Including Severe Combined Immunodeficiency DiseaseClinical Chemistry, 2010
- Expanded Newborn Screening: Outcome in Screened and Unscreened Patients at Age 6 YearsPublished by American Academy of Pediatrics (AAP) ,2009
- The long-term outcomes of presymptomatic infants transplanted for Krabbe disease: Report of the workshop held on July 11 and 12, 2008, Holiday Valley, New YorkGenetics in Medicine, 2009
- Introducing new screens: Why are we all doing different things?Journal of Inherited Metabolic Disease, 2007
- Cystic fibrosis: Benefits and clinical outcomeJournal of Inherited Metabolic Disease, 2007
- Use of Tandem Mass Spectrometry for Multianalyte Screening of Dried Blood Specimens from NewbornsClinical Chemistry, 2003
- Early Diagnosis of Cystic Fibrosis Through Neonatal Screening Prevents Severe Malnutrition and Improves Long-Term GrowthPediatrics, 2001
- Neonatal screening for sickle cell diseaseEmergencias, 2000
- Preliminary report on a mass screening program for neonatal hypothyroidismThe Journal of Pediatrics, 1975