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What is tandem mass spectrometry in newborn screening?

User Eslam
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Final answer:

Tandem mass spectrometry (MS/MS) is a powerful technique used in newborn screening to identify genetic disorders by detecting specific biomarkers in infants' blood. It provides a rapid and reliable method for early detection of various conditions that necessitate early treatment to prevent serious health issues.

Step-by-step explanation:

Tandem mass spectrometry, commonly referred to as MS/MS, is an advanced analytical technique used to determine the structure of molecules, quantify substances, and identify compounds within a sample. In the context of newborn screening, it's a vital technology that detects and measures very low concentrations of certain metabolites or proteins in blood samples. These biomarkers can indicate the presence of genetic disorders that, if left untreated, could lead to developmental issues, severe illness or even death. The process involves the selection of a particular ion of interest, its fragmentation into smaller ions, and the subsequent analysis of these fragments to deduce structural information or concentration.

Newborn screening programs that use MS/MS are critical in ensuring that life-threatening or debilitating conditions are identified and treated as early as possible. Babies are screened for a range of conditions based on mandated tests with some variation in the number of disorders tested between states. Although some propose that whole-genome sequencing should become mandatory for newborns, tandem mass spectrometry currently provides a rapid and reliable method for screening without the complexity and ethical concerns associated with analyzing a baby's entire genetic code.

User Rehno Lindeque
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