In 1972, France pioneered nationwide newborn screening for phenylketonuria, a rare metabolic disease responsible for mental retardation that can be prevented by proper diet. The goal of screening is to offer children early treatment to limit the impact of their disease.
Many countries have had newborn screening programs for 50 years, but France has really lost its lead. only seven pathologies are currently being investigated. A situation that will change from January 2023, the Ministry of Health announced as part of the celebration of the fiftieth anniversary of this exhibition. Seven additional rare metabolic diseases will be sought in infants. A long-awaited breakthrough by patient associations.
The blotter technique may seem a little archaic, but it is easy to implement and effective
Mr. Emmanuel Roush, Head of the National Newborn Screening Coordination Center
The Newborn Screening Program (DNN) now allows parents to look for biological markers in their newborns’ blood…
Source: Le Figaro