Starting in January 2023, birth screening tests for all newborns, which currently refer to six diseases, will be expanded to seven additional diseases, rare hereditary conditions, the Health Ministry announced on Friday.
The government thus joins an opinion of the High Health Authority (HAS), which dates from 2020.
Neonatal screening aims to screen all newborns for certain rare but serious diseases, mostly of genetic origin. Objective: take care of the baby before the first signs appear, allow it to develop without sequelae and grow as well as possible.
An opinion to generalize screening for sickle cell disease
Up to now, six rare diseases can be searched for, through biological tests from a drop of blood taken from the newborn’s heel and collected on blotting paper, as well as permanent neonatal deafness.
The new diseases in question are homocysturia, leucinosis, type 1 tyrosinemia, type 1 glutaric aciduria, isovaleric aciduria, long-chain hydroxyacyl COA dehydrogenase deficiency, and carnitine malabsorption.
Par ailleurs, the HAS vient de publier un avis recommandante la généralisation du dépistage de la drépanocytosis, jusqu’alors ciblé in priority sur les populations les most à risque (originaires des Antilles, d’Afrique, du pourtour de la Méditerranée et de l’ Indian Ocean).
Early management of this pathology can avoid serious health repercussions. An increase in the number of cases has been observed in the last decade (more than 50% increase between 2010 and 2020).
Implementation “as soon as possible”
Health Minister François Braun “will organize, starting in the coming months, the preparatory work for the concrete implementation of this screening” so that it is systematically offered to all newborns in France as soon as possible, according to the press release. .
Widespread screening for sickle cell disease has been included in the Social Security funding bill by government amendment. The associations had denounced in the past France’s delay in the diagnosis at birth of rare diseases.
In 2021, the national program made it possible to screen 1,165 children suffering from any of the six rare diseases that are currently being sought, that is, an incidence of one patient for every 641 children screened.
Adding new pathologies to the detection program will require a change in the organization of the experience centers but also of the maternity wards, the HAS pointed out in 2020.
Source: BFM TV
