Newborn blood spot screening: New opportunities, old problems
@article{Pollitt2009NewbornBS,
title={Newborn blood spot screening: New opportunities, old problems},
author={Rodney J. Pollitt},
journal={Journal of Inherited Metabolic Disease},
year={2009},
volume={32},
pages={395-399}
}SummaryNewborn screening is evolving very rapidly. Geographical coverage is expanding, particularly for common disorders such as congenital hypothyroidism. New technologies, particularly tandem mass spectrometry and high throughput mutation analysis, have increased greatly the range of disorders which could be covered. However, these new possibilities are being exploiting at very different rates in different countries. This is due in part to the different ways in which generally-accepted…
24 Citations
Newborn screening.
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This review focuses on Australasian NBS practices and testing for primary hypothyroidism and cystic fibrosis, which was the prototype disorder for newborn screening (NBS), and multiplex testing for approximately 25 inborn errors of metabolism using tandem mass spectrometry.
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The potential of newborn blood‐spot screening is expanding rapidly with the development of new analytical techniques and treatment methods. At the same time, some existing programmes, particularly…
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This review covers some of the basic theory of expanded MS/MS and follow-up confirmatory tests applied for NBS of IEM, a coordinated comprehensive system consisting of education, screening, follow- up of abnormal test results, confirmatory testing, diagnosis, treatment, and evaluation of periodic outcome and efficiency.
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- MedicineEuropean Journal of Human Genetics
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There are a wave of issues facing NBS programs that policy makers must take into account when developing policy processes, and issues pertinent to NBS policy making are explored through the lens of the policy cycle.
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- Medicine
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This is a commentary on a Cochrane review, published in this issue of EBCH, first published as: Southern KW, Merelle ME, Dankert-Roelse JE, Nagelkerke A. Newborn screening for cystic fibrosis.…
References
SHOWING 1-10 OF 49 REFERENCES
Newborn screening for cystic fibrosis: Techniques and strategies
- MedicineJournal of Inherited Metabolic Disease
- 2007
SummaryNewborn screening for cystic fibrosis has been carried out for over 25 years, and clinical and cost benefits have been documented. There is still much variation in the methods and strategies…
The consequences of extended newborn screening programmes: Do we know who needs treatment?
- MedicineJournal of Inherited Metabolic Disease
- 2008
Particular problems are seen with disorders that were previously thought very rare but are now found frequently by newborn screening, and in the present state of knowledge should clearly not be included in routine newborn screening panels.
International perspectives on newborn screening
- MedicineJournal of Inherited Metabolic Disease
- 2006
Alternative, less categorical, approaches are needed: the disorders concerned are not homogeneous entities and there may be advantages to screening other than reducing morbidity or mortality.
Medical Backup Needed for Newborn Metabolic Screening Programs
- Medicine
- 1980
While the technology of screening continues to expand, the development of medical backup services has lagged and the reasons for this are explored and recommendations for change are made.
Newborn screening for methylmalonic acidurias—Optimization by statistical parameter combination
- Medicine, BiologyJournal of Inherited Metabolic Disease
- 2008
The results of a new statistical approach to identify parameter combinations that allow for 100% sensitivity as well as increased specificity for newborn screening for disorders of propionate metabolism are reported.
Neonatal screening: from the ‘Guthrie age’ to the ‘genetic age’
- MedicineJournal of Inherited Metabolic Disease
- 2007
The purpose of this paper is to present some of the major problems that screening programmes will face in the near future.
Newborn bloodspot screening in the UK – past, present and future
- MedicineAnnals of clinical biochemistry
- 2008
The UK has lagged behind many other European countries in the application of tandem mass spectrometry (MS-MS) though, following a major pilot study, screening for medium-chain acyl-CoA dehydrogenase deficiency is now in the process of introduction.
Organization of a Regional Newborn Screening Laboratory
- Medicine
- 1980
Any newborn screening program and laboratory should be organized in such a manner as to allow for continuous expansion of tests as new methods for detection and treatment are developed.
Expanded newborn screening in Europe 2007
- MedicineJournal of Inherited Metabolic Disease
- 2007
An overview of the current status of expanded newborn screening programmes in Europe and the reasons for the differences observed appear arbitrary and contrary to the optimal benefit of this important preventive health measure are presented.
International cooperation in the expansion of a newborn screening programme in Lebanon: a possible model for other programmes
- MedicineJournal of Inherited Metabolic Disease
- 2008
SummaryTandem mass spectrometry (MS/MS) is rapidly gaining support, even in less-developed nations, as the method of choice for the newborn screening of metabolic disorders, although difficulties in…