Three new pathologies will be detected among newborns in France from September 1.
As of September 1, the neonatal screening program is enriched to detect three new rare diseases among babies, the Ministry of Health announced in a statement.
Among these new stated ills are:
- Severe combined immune deficits (DICS), which seriously weaken the baby’s immune system, making them vulnerable to potentially fatal infections. This disease, affecting approximately one baby in 63,500 births, can be treated by a bone marrow transplant. If this intervention is carried out during the first three months of life, it can save the infant.
- Infantile spinal amyotrophy (SMA), an evolutionary neuromuscular disease affecting muscles of approximately one in 10,000 in Europe. Thanks to new gene therapies, the prognosis of affected children can be considerably improved.
- The acyl-coenzyme deficit has dehydrogenase of very long chain fatty acids (VLCAD) concerning a newborn in 100,000. This genetic condition prevents the body from metabolizing certain types of lipids, requiring a change in diet from the first days of life to optimize the health of children who suffer from it.
14 diseases before
Screening takes place in maternity or at home by a simple blood sample on Buvard, made between two and three days after birth. Systematically proposed with the parents’ agreement, it is entirely free.
Since 2018, this program has gradually expanded, from five to 13 diseases detected in 2022, to which you added sickle cell anemia, a hereditary genetic disease that affects red blood cells in November 2024.
Since 2012, screening for neonatal permanent deafness has completed the list of medical biology exams already practiced, which includes phenylcetonuria, congenital hypothyroidism, congenital hyperplasia of the adrenals, cystic fibrosis, leucinosis, homocystinuria and tyrosinemia.
Health insurance supports 100% these examinations which, although not compulsory, are “highly recommended” in order to prevent or limit the serious complications linked to these diseases, by allowing a rapid diagnosis and the early implementation of suitable treatments.
The results are only communicated to parents in the event of an anomaly detected.