Question 5230 — health

Summary

Mr. Patrick Mignola draws the attention of the Minister of Solidarity and Health to France's delay in neonatal screening. Today, France only detects five rare diseases at birth, while other countries, such as the Netherlands or Spain, already detect more than 20. The current national neonatal screening program is aimed at all newborns born in France, and aims to detect babies susceptible to to be affected by certain diseases. These are 5 severe diseases whose frequency is rare in the French population, and which affect children early in the absence of treatment: phenylketonuria, congenital hypothyroidism, congenital adrenal hyperplasia, sickle cell disease, as well as cystic fibrosis. In fifty years, 33 million newborns have been screened, which has made it possible to identify and treat nearly 30,000 of them. Today, the technique has become widely sophisticated and makes it possible to screen for up to several dozen metabolic diseases, such as MCAD deficiency which affects one in 15,000 children. A reform in the organization of this screening has already been announced for 2018. The reorganization of the program should therefore take place soon, and should make it possible to move from associative management to hospital management under the aegis of regional agencies (ARS). He is therefore asking for it so that this reform is also an opportunity to expand screening to other pathologies, as recommended by the High Authority for Health.

Machine translation from French. The official text remains authoritative.

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