A new disease can be diagnosed at birth

Today, neonatal screening concerns five serious diseases: cystic fibrosis, congenital hypothyroidism, phenylketonuria, congenital adrenal hyperplasia and sickle cell disease. From the first trimester of 2020, a medical test at birth will make it possible to diagnose a sixth pathology: MCAD deficiency. The Minister of Health, Agnès Buzyn, made the announcement at the beginning of November, on the occasion of the 6^and edition of RARE Meetings 2019, organized in Paris by the Rare Diseases Foundation.

What is MCAD deficiency?

MCAD deficiency is a genetic disease, which manifests between three and 24 months after birth. The body is unable to use certain fats as a source of energy. MCAD deficiency can cause lethargy, vomiting, and in the absence of medical intervention, this disease can be fatal to the child. In 2011, the High Authority for Health (HAS) recommended screening for the disease, because “it makes it possible to prevent easily avoidable deaths in young children”. “Medical care, which is very effective, consists of observing simple dietary rules”, underlined the High Authority for Health.

Still no genetic tests at birth

France is lagging behind other countries such as Belgium, Sweden and Austria, where more than ten serious illnesses are screened at birth. In addition, the High Authority for Health is working on another subject: the possibility of neonatal genetic examinations. In October, during the examination of the bioethics bill in the National Assembly, the deputies in favor of the establishment of these examinations at birth were not followed. A decision denounced by patient associations. “The impossibility of carrying out targeted genetic tests at birth is clearly a loss of opportunity for babies born today”, lamented the AFM-Téléthon. Indeed, a disease such as spinal muscular atrophy is seeing the arrival of new effective treatments. However, the earlier they are given, the more effective they are.