Newborn Screening by Tandem Mass Spectrometry

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Newborn screening by tandem mass spectrometry: gaining experience.

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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Newborn screening by tandem mass spectrometry: ethical and social issues.

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...

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Newborn 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...

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Newborn screening by tandem mass spectrometry (MS-MS)

Newborn screening for selected inherited metabolic disorders is a well-established public health measure in most developed countries [1/. The purpose is to identify and properly diagnose individuals in the neonatal period to enable early medical intervention to prevent or significantly reduce clinical symptoms such as mental retardation. Some of the basic criteria for determining which inherite...

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ژورنال

عنوان ژورنال: Clinical Chemistry

سال: 2001

ISSN: 0009-9147,1530-8561

DOI: 10.1093/clinchem/47.11.1937