Question 14621 — health professions

Summary

Mr. Paul Christophe draws the attention of the Minister of Solidarity and Health to the need to strengthen neonatal diagnosis. Long a pioneer in neonatal screening, France is now significantly behind since only five rare diseases are currently systematically detected at birth by a biological examination (phenylketonuria, congenital hypothyroidism, congenital adrenal hyperplasia, sickle cell anemia and cystic fibrosis). Despite technical progress and scientific advances, France has been slow to equip its screening laboratories. Neighboring European countries have taken a significant lead in this area; Sweden now screens 24, Germany 22 and Spain or Portugal 25. This neonatal screening aims to prevent or minimize the manifestations of congenital diseases, most often hereditary, both rare and serious. The extension of screening would make it possible to reduce diagnostic wandering, make definitive diagnoses, and put in place appropriate care pathways. Nearly thirty-five metabolic diseases could thus be detected. Consequently, he would like to know if the Government intends to extend neonatal screening to other rare diseases and how it can financially support establishments. in the acquisition of cutting-edge equipment.

Machine translation from French. The official text remains authoritative.

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