Newborn screening: new advances from September 2025

Newborn screening is a small step that makes a big difference. In France, it has existed 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 filter paper, are then sent to the Regional Newborn Screening Center for analysis.

In the vast majority of cases, everything is normal and you won't hear anything more 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 even before symptoms appear, and give children the best chance of living healthy lives.

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 screen for three serious diseases at birth that, until now, sometimes went undetected.

The first is Severe Combined Immunodeficiency (SCID). It's 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 tomorrow, 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 premature death. Here again, early detection makes all the difference: today, we have several treatments that, when administered early, slow down or prevent the onset of symptoms. Management also relies on comprehensive support, including physiotherapy, respiratory care, and nutritional monitoring.

Finally, the third condition 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 seizures. The first signs often appear between birth and two years of age, particularly during periods of fasting or infection. It affects approximately one in 100,000 births in Europe. Treatment primarily involves a suitable diet, avoiding fasting, and lifelong medical monitoring.

These new screenings represent a real step forward for public health. They are made possible by 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 where all samples from babies in our region arrive. Every year, we analyze tens of thousands of samples.

This summer, we reached a new milestone: the CRDN acquired a state-of-the-art genomics platform and welcomed specialized staff, with the support of the Regional Health Agency . Since September, this has allowed us to also perform genetic analyses and integrate new diseases into neonatal screening.

But I also want to emphasize 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 any time and the option to withdraw if they wish.