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A drop of blood to predict rare diseases

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A drop of blood to predict rare diseases

A small drop of blood, taken from the heel of a newborn, is enough to identify over 40 hereditary metabolic diseases and intervene promptly, when necessary, with the most appropriate treatments.

Neonatal screening is an examination that is performed on all newborns, at 48-72 hours of life, before being discharged from the nursery. It is a preventive medicine program: the survey is carried out on the entire neonatal population. In addition to being a mandatory test since 1992, it is also a right for all newborns. Initially, only 3 diseases were evaluated: phenylketonuria, congenital hypothyroidism and cystic fibrosis. But since 2016 (Law n.167/2016) the screening has been extended, throughout the national territory, to more than 40 different metabolic pathologies. It is called “Extended Neonatal Screening” (ENS).

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