Neonatal screening

Neonatal screening makes it possible to detect the potential presence of congenital diseases long before symptoms appear. These hereditary metabolic diseases may have real effects on long-term patient health: developmental delays, chronic pain and, in extreme cases, death. Although these diseases are often incurable, they are not untreatable and can be detected with a single blood sample. If started in time, treatments make normal development possible and prevent severe and permanent consequences in children.

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