Each year, nearly 700,000 babies are born in France. From their first hours, blood test, free and highly recommended, makes it possible to identify certain silent but serious pathologies. This Monday, September 1, marks a major development: three new diseases are added to the list, bringing sixteen the number of pathologies sought among newborns.
A screening extended to three rare and serious diseases
The Ministry of Health has confirmed that neonatal screening will now include infantile spinal amyotrophy (SMA), severe combined immune deficits (DICS) and acyl-coenzyme deficit dehydrogenase of very long chain fatty acids (VLCAD).
- SMA, the most frequent of the three, affects approximately 1 in 7,000 baby. This scalable neuromuscular disease can lead to paralysis and, in its severe forms, a death before 2 years. Early treatment radically changes the prognosis;
- Dics, much rarer (1 in 30,000), seriously weaken the immune system. A bone marrow transplant before 2 months can save the child;
- The VLCAD, detected in approximately 1 in 100,000 infants, requires a suitable diet from birth to avoid serious cardiac and hepatic complications.
The test remains simple: a few drops of blood taken from the baby’s heel within 48 to 72 hours after birth.
A major advance, but a delay in the face of other countries
This enlargement, announced last May, was long awaited by associations like AFM-Télethon, which speaks of a “major advance for families”. It follows successful experiments in certain French regions.
However, France, a long pioneer in the matter, has lost ground: 16 diseases are now detected, against 40 in Italy or even more in other European countries. The associations therefore demand a more ambitious program to make up for this delay.
Why is this screening crucial?
The national neonatal screening program has existed since 1972 and has already taken charge of 40,000 children before the appearance of symptoms. These tests can differentiate between normal life and severe handicap, even death. In the event of a suspicious result, parents are quickly contacted to confirm the diagnosis and set up suitable treatment.