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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- 2010
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.
New technologies extend the scope of newborn blood‐spot screening, but old problems remain unresolved
- MedicineActa paediatrica
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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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- MedicineJournal of Inherited Metabolic Disease
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- MedicineClinical chemistry and laboratory medicine
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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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Research into different perspectives on genetic information in health care finds that genetic information on an effective immune response against pathogens in the female reproductive organ may allow the diagnosis of infertility to be made more accurately.
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- MedicineEuropean Journal of Human Genetics
- 2017
The analyses presented in this article highlight that despite programs' commonalities, no one 'DBS decision-making solution' exists and provides an objective starting point for structured decision- making approaches for DBS programs.
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- Medicine, BiologyJournal of pharmacological and toxicological methods
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Policy Making in Newborn Screening Needs a Structured and Transparent Approach
- Medicine, Political ScienceFront. Public Health
- 2017
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.
Commentary on ‘Newborn screening for cystic fibrosis’, with a response from the review authors
- Medicine
- 2009
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.…
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