HeathcareNewborns: seven new diseases to be detected in January,...

Newborns: seven new diseases to be detected in January, i.e. 13 in total


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Six to thirteen. From January 2023, screening of all newborns at birth will be extended to seven additional diseases, rare hereditary diseases, the health ministry said on Friday. Thus, the government joins the opinion of the Higher Office of Health (HAS) of 2020.

Neonatal screening aims to detect some rare but serious diseases in all newborns, mostly of genetic origin. The goal is to take care of the child before the first signs appear, to give him the opportunity to develop without consequences and grow as best as possible.

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To date, six rare diseases can be looked for using biological tests on a drop of blood taken from the heel of a newborn and collected on blotting paper, as well as permanent neonatal deafness. Emerging diseases include homocyturia, leucinosis, type 1 tyrosinemia, type 1 glutaric aciduria, isovaleric aciduria, long chain hydroxyacyl-CoA dehydrogenase deficiency, and carnitine uptake deficiency.

Is universal screening for sickle cell anemia coming soon?

In addition, HAS has just published an opinion recommending the extension of screening for sickle cell anemia, which has hitherto been targeted primarily at populations most at risk (from the West Indies, Africa, the Mediterranean and the Indian Ocean). Early treatment of this pathology avoids serious health consequences. The last decade has seen an increase in the number of cases (more than 50% between 2010 and 2020).

Minister of Health François Brown “will organize in the next few 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. release.

A generalization of screening for sickle cell anemia was included in the Social Security Funding Bill by a government amendment. In the past, associations have denounced the delay in France in terms of diagnosing rare diseases at birth. In 2021, the national program made it possible to examine 1,165 children suffering from one of the six rare diseases currently being studied, that is, the incidence of one patient per 641 examined children.

Source: Le Parisien

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