Screening at birth in all newborns must be extended to seven additional diseases, "rare hereditary" conditions, recommends the High Health Authority (HAS) in a notice published on Monday. Neonatal screening aims to "search all newborns for certain rare but serious diseases, most of which are of genetic origin," emphasizes the HAS.
The objective is to 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 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.
Expand to seven new diseases
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 advocates 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. HAS has not yet selected the 17 other pathologies but will reassess some of them within 3 years.
Samples after birth
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 wards 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 24 diseases, Belgium more than a dozen" while France tests only five at birth, remarked Nathalie Triclin, president of the Alliance of rare diseases.
The cost (8.6 million euros per year, or 11 euros per newborn) does not explain this delay, rather "indicative of the poor organization of the French system", according to her. The five diseases currently screened are phenylketonuria, congenital hypothyroidism, cystic fibrosis, congenital adrenal hyperplasia and, for children at risk, sickle cell anemia.
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