New diseases detected in newborns from 1 September 2025

Some diseases are not visible in a baby within days of birth, but a blood test can detect them. These rare diseases, and most of the time genetic, can have serious consequences if they are not managed soon after birth.

Neonatal screening is offered to the parents of each newborn; it can only be done with their consent. It is covered 100% by the Health Insurance.

This screening, carried out as early as 48 hours after birth, makes it possible to identify sick children and start treatment even before signs of the disease appear; it is a means ofprevent these children from having permanent sequelae, and their allow to develop and grow as best as possible.

From 1^er in september 2025, 3 new diseases will be detected in newborns as part of the national newborn screening program.

• Severe combined immune deficiencies: This disease severely weakens the immune system; it makes you vulnerable to infections, which can then be fatal. This pathology affects about 1 baby out of 63,500 births (according to the French study DEPISTREC, presented in a document from the High Health Authority). It can be treated with a bone marrow transplant.
• Infant spinal muscular atrophy: This progressive neuromuscular disease affects muscles and causes progressive paralysis. It affects about 1 in every 10,000 babies born in Europe. Gene therapies are now available that can significantly improve the course of the disease.
• The acyl-coenzyme A dehydrogenase deficiency of very long chain fatty acids: this inherited disease prevents the body from using certain types of fats normally and converting them into energy. In Europe, this pathology affects on average 1 newborn in 100,000. Proper nutrition from birth improves the health of affected children.

These 3 diseases shall be added to 13 already searched in the newborn screening program.