There will be fourteen rare diseases screened at birth from January 2023, compared to seven currently.
IN 1972, France was a pioneer by instituting nationwide neonatal screening for phenylketonuria, a rare metabolic disease responsible for severe mental retardation, preventable with a suitable diet. The purpose of screening is to be able to offer early treatment for children, in order to limit the impact of their disease.
For 50 years, many countries have had neonatal screening programs, but France has indeed lost its leadership: currently, only seven pathologies are screened. A situation that will change from January 2023, announced the Ministry of Health on the sidelines of the celebration of the fiftieth anniversary of this screening. Seven additional rare metabolic diseases will be sought in newborns. A breakthrough long awaited by patient associations.
The blotter technique may seem a little archaic, but it’s easy to implement and effective
Pr Emmanuel Rusch, head of the National Center for the Coordination of Neonatal Screening
The Newborn Screening Program (DNN) now offers parents the opportunity to look for biological markers in the blood of babies…