4.7 Letter

Exploring the feasibility of using long-term stored newborn dried blood spots to identify metabolic features for congenital heart disease screening

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Current State and Innovations in Newborn Screening: Continuing to Do Good and Avoid Harm

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Summary: In 1963, Robert Guthrie developed a bacterial inhibition assay to measure phenylalanine in dried blood spots, which enabled the detection of phenylketonuria through whole-population screening in the USA. Newborn screening (NBS) has become an integral part of public health in developed countries, incorporating technological advances that allow for the detection of over 60 disorders. Methodological advances, proteomic and metabolomic techniques, and statistical algorithms have greatly improved the specificity and sensitivity of NBS.

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