Neonatal screening: three diseases added to the list from September 1, 2025

Consequently,

Neonatal screening: three diseases added:

In France. Meanwhile, an additional step is taken in the prevention of pathologies at birth: from September 1, 2025, three rare diseases will be sought at all newborn, in addition to the screening already in place. However, This development. Therefore, acted by an order published in the Official Journal on April 30, 2025 after the opinion of the High Authority for Health.

It extends the updating of the program initiated in recent years. Nevertheless, the generalization of the sickle cell anemia intervened on November 1, 2024.

Neonatal screening 2025: DICS, SMA, VLCAD: What are we talking about? – Neonatal screening: three diseases added

Three pathologies join the national system:

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  • DICS (severe combined immune deficits)

It implies a major weakening of immune defenses, with a vital infectious risk. Its incidence is estimated around 1 in 30,000 births and requires an early marrow transplant.

  • SMA neonatal screening: three diseases added (Infantile spinal amyotrophy)

It is an evolutionary neuromuscular involvement. It affects one in 7,000.

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  • VLCAD (ACYL-COA dehydrogenase deficit of very long chain fatty acids)

VLCAD is a hereditary disorder of oxidation of fatty acids. It affects approximately one in 100,000 births and must be taken care of quickly to avoid serious complications.

With this extension, 16 pathologies will be detected by medical biology exams at birth. This base is added to the screening of neonatal permanent deafness, in place since 2012.

Guthrie test: fast. 100 % supported

Neonatal screening remains organized around a sample of a few drops of blood in the heel or by hand, made between 48 and 72 hours of life and deposited on blotting paper (Guthrie test). The examination is systematically offered. carried out with the parents’ agreement and without the advance of costs: health neonatal screening: three diseases added insurance ensures 100 %coverage.

In terms of results. the principle remains unchanged: an alert is made only in the event of an anomaly in order to quickly chain confirmation assessments and specialized care. This organization aims to start treatments and preventive measures before the appearance of symptoms, as for years for phenylcetonuria.

In addition. a national framework and regional centers coordinate this network so that each birth in France, overseas inclusive, benefits from the same level of prevention. By adding DICS. SMA and VLCAD, France consolidates an ultra-rececoce prevention that changes the course of severe diseases, on the level of the first days of life of infants.

Further reading: A non-vaccinated 2 year old baby dies of measles, the first victim of the epidemicA paraplegic farmer who has never gone upResearchers pierce the mystery of this syndromeunderstand symptoms and avoid bitesAn emergency center for headaches in Paris, puffed with hope for the patients.

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