Screening at birth in all newborns should be extended to seven additional diseases, "rare hereditary" conditions, recommends the High Health Authority (HAS) in a notice published Monday. This screening aims to "search in all newborns for certain rare but serious diseases, mostly of genetic origin", underlines the HAS. Objective: act "before the onset of symptoms" in order to "avoid or limit the negative consequences of these diseases on the health of children".
Five diseases currently being researched
Five diseases are currently being researched by biological tests carried out using a drop of blood taken from the heel of the newborn and collected on blotting paper. The deficit in MCAD, a rare disease characterized by an inability of the body to use fat as a source of energy, "will be integrated into the program in 2020", recalls the HAS. She recommended this systematic screening in 2011 "to prevent easily preventable deaths" with "simple dietary rules".
This advisory body of the public authorities, now recommends expanding the national program to seven new "rare hereditary" diseases which are part of a group of 24 "innate metabolic errors (ADE)" which it has evaluated. This addition is part of a technique ("tandem mass spectrometry") which makes it possible to quickly and simultaneously detect from a single blood sample more than thirty ADEs. The HAS has not yet selected the 17 other pathologies but will reassess some of them within three years.
France behind according to associations
The inclusion of new pathologies in the screening program will require an evolution in the organization of the 13 centers of expertise but also of maternity wards, notes the HAS. In particular, maternity hospitals must ensure that the samples are taken between 48 and 72 hours after birth, and that the blotters are sent to the laboratory "within a maximum of 24 hours".
The associations had denounced the delay of France in terms of diagnosis at the birth of rare diseases, last February on the occasion of the international day dedicated to these diseases. "Sweden, Austria screen for 24 diseases, Belgium more than a dozen (11 in Flanders, 13 in Wallonia)" while France only screens for five at birth (in addition to the deafness introduced more recently ), remarked Nathalie Triclin, president of the Alliance of rare diseases.