A small sting on the heel and a few drops of blood. Until then, neonatal screening, carried out in the first days of life of newborns, made it possible to detect six rare diseases, as well as permanent deafness, detected during another test. From Sunday 1is January 2023, seven new pathologies will be added. Purpose ? “Take care of the baby even before the appearance of the first signs (of the disease, Editor’s note) », recalled, on November 18 in a press release, the Ministry of Health and Prevention, on the occasion of the 50th anniversary of the national neonatal screening program.
This act is indeed far from new. In France, its generalization dates back to 1972. Since then, neonatal screening has been offered free of charge to parents, on the third day of their child’s life. It is not mandatory, but highly recommended. Because : “It allows children with an illness to be taken care of at an early stage. This can sometimes radically change their life course,” assures Fabienne Kochert, pediatrician in Orléans (Loiret). In 2021, 1,165 sick newborns were screened in this way, according to the government. That is an incidence of one sick child for 641 screened.
serious complications
Currently, once the parents’ consent has been obtained, five diseases are systematically sought, such as cystic fibrosis, MCAD deficiency, which can lead to comas leading to death, phenylketonuria or congenital hypothyroidism, both of which can cause Mental retardation. Screening for sickle cell disease, the cause of persistent anemia or vascular complications, is only offered to populations exposed to this disease, mainly in overseas territories. Its detection should soon be generalized to all children, after an opinion from the High Authority for Health (HAS).
From January 1, homocystinuria, leucinosis, tyrosinemia type 1, isovaleric aciduria and glutaric aciduria type 1, as well as carnitine uptake deficiency and LCHAD deficiency will also be screened from birth. . These rare diseases are little known, but their complications are very serious. Some may indeed “cause growth delays, neurodevelopmental disorders, liver or kidney damage”, says Fabienne Kochert.
37 million children screened
But then, why limit this test to seven new diseases? Neonatal screening is of interest only if it “brings something to the child and his family”, emphasizes the pediatrician. This is why only diseases accompanied by a treatment or therapeutic measures can be sought early. Indeed, screening must necessarily be “beneficial for the child, in terms of quality of life”adds Ségolène Aymé, medical geneticist, emeritus research director at Inserm. “We cannot put families in anguish, without being able to change the course of things”, she adds.
Before extending screening to new rare diseases, ” we have to (also) be certain of being able to offer effective follow-up to sick childrenadds the specialist. There is an organizational cost to take into account. » Just like the effectiveness of screenings, the results of which are “sometimes imperfect”. There are therefore many precautionary measures. The fact remains that, since 1972, more than 37 million children have been screened in France in this way and nearly 30,000 have been able to be taken care of quickly.