Newborn Screening in France Expands to Detect three Additional Life-Threatening Diseases
Paris, France – September 1, 2025 – France is significantly expanding its newborn screening program, adding three critical conditions to the list of diseases detected in the first days of life. As of today, all newborns in France will be screened for infantile spinal muscular atrophy (SMA), severe combined immune deficiencies (SCID), and acyl-coenzyme dehydrogenase deficiency of very long chain fatty acids (VLCAD), in addition to the existing screening for 13 other diseases.
This expansion represents a major step forward in early diagnosis and treatment for these often devastating conditions. Previously, screening was offered for 13 diseases, but the addition of these three will allow for earlier intervention, perhaps mitigating severe health consequences and improving quality of life for affected children.
What are these new conditions?
Infantile Spinal Muscular Atrophy (SMA): A genetic disease affecting motor neurons, leading to muscle weakness and atrophy. Early diagnosis and treatment wiht gene therapy or other emerging therapies can dramatically improve outcomes.
Severe Combined Immune Deficiencies (SCID): Often referred to as “bubble boy disease,” SCID represents a group of rare disorders characterized by a severely compromised immune system. Early diagnosis allows for bone marrow transplantation or gene therapy,offering the potential for a functional immune system.
* acyl-coenzyme Dehydrogenase Deficiency of Very Long Chain Fatty Acids (VLCAD): A metabolic disorder that prevents the body from properly breaking down certain fats. Early detection and dietary management can prevent life-threatening metabolic crises.
The expanded screening program underscores France’s commitment to preventative healthcare and utilizing advancements in genetic testing to improve pediatric outcomes.While the screening is currently offered free of charge, the long-term impact on healthcare resources and the potential for increased demand on specialist services will be closely monitored.
[Image of a newborn being examined, with caption: “Until now, in France, in the two or three days of life of a child, screening was offered free for 13 diseases. Sixteen pathologies will now be detected.” – CHRISTOPHE ARCHAMBAULT / AFP]
Source: Le Figaro with AFP
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