Three new serious diseases will be detected, including spinal amyotrophy, at birth since Monday, a long -standing development by patient associations, while France remains late in this area compared to other countries.
“As of September 1, 2025, all newborns in France benefit from an evaluation extended to three new rare and serious diseases,” said the Ministry of Health on Monday, September 1.
Until now, in France, in the two or three days of a child, a detection was offered, not mandatory but highly recommended, for free for 13 diseases, a few drops of blood taken from the baby’s heel and picked up in a blotter. Sixteen pathologies will now be detected, specifies the Ministry of Health that greets “the mobilization of regional detection centers”. “The integration of these pathologies represents an important advance that required significant preparatory work,” continues the ministry.
Associations want to go further
The three new diseases are Children’s Spinal Amarotrophy (SMA), serious immune deficits (DIC) and the Acil-Coenzyme deficit dehydrogenase of very long chain fatty acid (VLCAD).
The SMA is the most frequent, touching a baby in 7,000. It is a very serious genetic disease, which is characterized by an irreversible neuromuscular degeneration. In his most severe forms, he kills the child before his two years, quickly victim of difficulty eating or breathing, but early management can drastically limit the consequences.
The other two diseases are even rare: one in 30,000 for DICS, which seriously weakens the baby’s immune system and can be treated by a bone marrow transplant in the first two months of life, and one in every 100,000 for the VLCAD, which requires giving a very suitable diet from birth.
This detection expansion, announced last May, was strongly desired by associations to combat rare diseases. AFM-Téléthon praised an “important advance for families at the end of August”, remembering that he has followed a successful experiment in recent years in Granest and Nueva Aquitaine.
However, associations believe that detection could go further in France. It has been a long time in advance, for 50 years, 40,000 children have been treated thanks to detection, but now it is less ambitious than other countries, such as Italy, which detects about forty diseases at birth.
Source: BFM TV
