During the two or three days following the birth of a child, screening is offered at the maternity ward to all young parents.

This "Guthrie test" comes in the form of a blotter that will collect a drop of blood taken from the infant's heel.

A hearing screening is carried out at the same time.

The test, the results of which are generally known within ten days, is not compulsory but strongly recommended.

Created in 1972, this free national program makes it possible to detect certain rare diseases in newborns, such as cystic fibrosis or congenital hypothyroidism, before the appearance of the first signs.

Since January 1, 2023, following the recommendations of the High Authority for Health (HAS), screening has been extended to seven additional diseases, rare hereditary conditions affecting metabolism.

"Each year, one of these diseases will be screened on 50 to 60 newborns, who will join the 1,100 babies saved by screening", rejoiced at a recent press conference Michel Polak, head of the Regional Center for Neonatal Screening. from Ile-de-France based at the Necker-Enfants Malades Hospital AP-HP.

Early support

For a disease to be added to the program, several criteria must be met: there must be a treatment, it must be considered a public health problem and, finally, the test must be easy to perform.

“It is important to screen for diseases that can be treated because parents will never see that their child is sick,” explains Michel Polak, shortly before World Rare Disease Day on February 28.

Seven new diseases are included in a national birth screening program © FRED DUFOUR / AFP/Archives

In the case of the seven newly added diseases, medications or diets can be put in place early enough to prevent the newborn from developing symptoms and complications.

Recent technological developments have helped France to catch up on neonatal screening.

"The acquisition of tandem mass spectrometers, machines allowing the analysis on the same blood task of many diseases at once, was decisive", notes Jean-Baptiste Arnoux, pediatrician coordinator of the screening working group at the within the G2M rare diseases sector.

"But technology is not enough, for a long time we lacked political will".

Following the recommendations of the HAS, screening for sickle cell disease should be extended to all births, whereas until now it was reserved for families most at risk of transmitting the disease: people of African origin , Caribbean or Mediterranean.

Early management of this pathology, the number of cases of which has increased by more than 50% in ten years, will make it possible to avoid serious health repercussions.

Launch window

And neonatal screening could still open up to other conditions: five additional metabolic diseases will indeed be discussed in 2023.

Two regions – the Grand-Est and New Aquitaine – have also been experimenting since the fall with screening for a genetic disease, spinal muscular atrophy, which strikes around a hundred babies each year in France.

In its most serious form (about half of the cases), it kills the affected child in less than two years, who quickly becomes the victim of difficulty eating or breathing.

However, for a few years, treatments have existed but they are much more effective if they are taken before the disease declares itself.

Unlike many countries such as Belgium and Germany, France has long been opposed to "genetic" screening at birth, with many elected officials stirring fears around a threat of "eugenics".

But things changed with the bioethics law of 2021.

"If detected very early, this disease offers a very short window of opportunity during which gene therapy works", underlines Arnold Munnich, president of the Imagine foundation (institute for research on genetic diseases).

"This condition should be at the top of the diseases detected very early", he pleads.

© 2023 AFP