Tandem Mass Spectrometry in Newborn Screening
نویسندگان
چکیده
منابع مشابه
Newborn screening for sickle cell disease using tandem mass spectrometry.
BACKGROUND Neonatal screening programs for sickle cell disease are now widespread in North American and European countries. Most programs apply isoelectric focusing or HPLC to detect hemoglobin variants. Because tandem mass spectrometry (MS/MS) is being used for screening of inherited metabolic disorders and allows protein identification, it was worth testing for hemoglobinopathy screening. M...
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Major expansion of newborn screening for inherited metabolic disorders is taking place across the US and around the world as newer analytical technology is applied. Historically, each disorder to be screened required a separate test with associated costs and requirement for a portion of the dried-blood-spot specimen from a heel stick. This limitation of the existing tests was partially responsi...
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Emerging technologies like Tandem Mass Spectrometry (TMS) enable multiple tests on a single blood sample and allow the expansion of Newborn Screening (NBS) to include various metabolic diseases. Introducing TMS for NBS raises important social and ethical questions: what are the criteria for adding disorders to screening panels? What evidence justifies expansion of screening? How can equity in N...
متن کاملNewborn screening by tandem mass spectrometry: a new era.
Soon after Guthrie (1) expanded newborn screening by adding galactosemia, maple syrup urine disease (MSUD), and homocystinuria to the original screening for phenylketonuria (PKU), he realized that screening would be more efficient and comprehensive if a single assay could be used to detect several disorders rather than the system of a separate bacterial assay for each disorder that he had devel...
متن کاملTandem mass spectrometry and newborn screening: pilot data and review.
United States legislatures are debating whether to use tandem mass spectrometry to expand the roster of inherited disorders tested in newborn screening programs. The debate is hampered because published financial data comparing charges associated with late vs early diagnosis are not readily available. We provide pilot financial data comparing late diagnosis vs presumptive diagnosis and early ma...
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ژورنال
عنوان ژورنال: The Journal of Perinatal & Neonatal Nursing
سال: 2004
ISSN: 0893-2190
DOI: 10.1097/00005237-200401000-00005