Newborn screening: new advances from September 2025

Newborn screening is a small gesture that makes a big difference. It's been around in France since 1972 and has already saved the lives of thousands of children. Specifically, between the second and third day of life, a midwife or nurse takes a few drops of blood from your baby's heel. These drops, placed on a blotting paper, are then sent to the Regional Newborn Screening Center for analysis.

In the vast majority of cases, everything is normal and you don't hear anything else about the test. But if an abnormality is detected, we get back in touch very quickly: first to confirm the result, then to put the necessary care in place. It is thanks to this screening that we can diagnose certain rare diseases very early, often before symptoms even appear, and give children the best chance of living a healthy life.

Since September 1 ^, 2025, we have reached a very important milestone: for the first time, we are using molecular biology genetic tests, called PCR . This allows us to detect three serious diseases from birth that, until now, sometimes escaped detection.

The first is Severe Combined Immune Deficiency (SCID). This is a rare disease, affecting about one in 63,500 births, in which the baby has virtually no immune defenses. Without treatment, infections are rapidly fatal. But if the disease is detected early, a bone marrow or stem cell transplant, performed before the age of two months, can save the child's life. And in the future, gene therapy could offer even more hope.

The second is Spinal Muscular Atrophy (SMA). It affects approximately one in 10,000 to 12,000 births. It is a genetic disease that causes progressive muscle weakness and, in its severe forms, can lead to early death. Here again, early detection makes all the difference: today, we have several treatments that, when administered quickly, slow or prevent the onset of symptoms. Management also relies on comprehensive support with physiotherapy, respiratory care, and nutritional monitoring.

Finally, the third disease is VLCAD deficiency. This is a rare metabolic disorder that prevents the body from using certain fats as an energy source. It can cause hypoglycemia, liver damage, heart problems, or muscle attacks. The first signs often appear between birth and two years of age, particularly during fasting or infection. It affects approximately one in 100,000 births in Europe. Treatment here mainly relies on a suitable diet, avoidance of fasting, and lifelong medical monitoring.

These new screening tests represent a real step forward for public health. They are made possible thanks to the evolution of bioethics laws, which guarantee both access to these innovations and the protection of families' health data.

Today, the Regional Neonatal Screening Center , which is part of the Caen Normandy University Hospital, is the place where all the samples from babies in our region arrive. Every year, we analyze several tens of thousands of samples.

This summer, we took a new step: the CRDN equipped itself with a cutting-edge genomics platform and welcomed specialized staff, with the support of the Regional Health Agency . This has allowed us, since September, to also carry out genetic analyses and to integrate new diseases into neonatal screening.

But I also want to reiterate one essential point: everything we do is based on respect for parents. Newborn screening is always done with their consent. For genetic testing, written authorization is required. Health data is processed in a strictly secure manner, as required by bioethics laws. And of course, families retain the right to information at all times and the ability to withdraw if they wish.