Newborn screening currently checks all newborns in France for 16 rare conditions. It involves collecting a few drops of blood from the heel between the third and fifth days of life. Since September 1, 2025, three additional conditions have been added to the national program. Here is what this screening covers, how it is carried out, and what parents need to know.
What is newborn screening?
This is a free national public health program offered to every newborn. Its principle is simple: to identify, before any symptoms appear, rare but serious conditions for which early treatment changes the prognosis.
The program has existed since 1972, when screening for phenylketonuria was made universal. It has been expanded in stages since then. Its organization is governed by an order dated February 28, 2018, which sets out the list of conditions screened for and the role of each participant.
The French National Authority for Health is involved upstream. It scientifically evaluates each proposal for an addition, produces information materials for families, and monitors international developments in screening.
Newborn screening does not replace the clinical examination at the maternity unit or follow-up appointments during the first few months. It complements these appointments by looking for conditions that no physical examination can detect at this stage.
How is the heel-prick test performed?
A few drops of blood are taken from the baby’s heel and placed on filter paper. The sample is collected between the third and fifth days of life, most often at the maternity unit. It takes less than a minute.
This timing is not arbitrary. Some markers cannot be interpreted until after several days of feeding. A sample collected too early could produce uninterpretable results.
If you leave the maternity unit early, the sample collection is arranged at home or during a consultation. It should not be postponed: this is the main point families need to be mindful of when they go home before the third day. Our list of essentials for returning home covers this pivotal period.
The procedure is brief but real. Skin-to-skin contact, sucking, or breastfeeding during the sample collection reduces the infant’s discomfort. These simple measures are routinely offered in maternity units and can be requested.
The test is offered, not mandatory. Parents are informed and may decline it. The cost is fully covered.
What are the 16 conditions screened for?
The current list covers metabolic, endocrine, hematological, immune, and neuromuscular diseases.
- Phenylketonuria
- Congenital hypothyroidism
- Congenital adrenal hyperplasia
- Cystic fibrosis
- Sickle cell disease
- MCAD deficiency
- Homocystinuria
- Maple syrup urine disease
- Tyrosinemia type 1
- Isovaleric acidemia
- Glutaric aciduria type 1
- LCHAD deficiency
- Carnitine uptake deficiency
- Severe combined immunodeficiency
- VLCAD deficiency
- Spinal muscular atrophy
Sickle cell disease screening requires clarification. Long reserved for newborns considered at risk, it received a favorable opinion from HAS for universal screening in November 2022. It now concerns all newborns.
Why these diseases and not others?
A disease is not included in a screening program simply because it is serious. It is included when several conditions are met at the same time.
- A reliable test exists that can be applied on a large scale using a simple sample.
- The disease is silent at first, even though lesions are already developing.
- Early treatment is available and genuinely changes the course of the disease.
- The expected benefits outweigh the drawbacks of results requiring confirmation.
That is why the list changes. The arrival of effective treatments for spinal muscular atrophy has changed the situation for this disease. Other conditions are still being evaluated, including biotinidase deficiency and galactosemia, whose assessment was published in July 2024.
What changed on September 1, 2025
Three diseases were added on this date, increasing the program from 13 to 16 conditions.
Spinal muscular atrophy
This neuromuscular disease of genetic origin affects the neurons that control the muscles. Treatments are now available, and their effectiveness depends directly on how early they are administered. This is why it has been added to the screening program.
Severe combined immunodeficiency
It exposes infants to serious infections from their first months of life. When identified early, it allows immediate protective measures and, in some cases, a transplant.
VLCAD deficiency
This metabolic disease prevents the body from properly using fats as an energy source. It can cause severe hypoglycemia as well as heart and muscle damage. Dietary adjustments prevent these complications.
The testing process itself has not changed. The same sample, on the same filter paper, is used to screen for all 16 diseases.
What happens after the sample is collected?
The principle is “no news is good news.” Families are contacted again only if a result requires follow-up. If you hear nothing, it means that nothing abnormal was detected.
A recall does not mean that the child is ill either. Screening is deliberately sensitive, which produces results that need to be confirmed. A second sample or a specialist examination then determines the diagnosis.
This approach to early identification can also be found in other follow-up programs, such as identifying neurodevelopmental disorders before age three.
What about hearing-loss screening?
It does exist, but it is separate. Screening for permanent congenital hearing loss is based on a short, painless hearing test carried out at the maternity unit. It does not involve the blood spot card and is not part of the 16 diseases listed above.
The two processes complement each other in the first few days. They use neither the same technical method nor the same confirmation pathway.
What this changes for parents
In practical terms, there is little to arrange: the sample is collected automatically at the maternity unit. However, three points warrant attention.
- Make sure the sample was collected before discharge, especially in the event of early discharge.
- Keep the contact details provided to the maternity unit up to date, so that you can be contacted again if necessary.
- Do not confuse screening with diagnosis: a requested check is not confirmation of a disease.
This first examination is part of the follow-up schedule for the first few months, alongside mandatory checkups and infant vaccination. It concerns all births recorded in France each year; our article on birth rates according to INSEE provides the figures.
The very first days thus bring together several preventive measures: blood screening, a hearing test, safe sleep guidelines, and the first checkup. This is also when the child's daily environment takes shape, as described in our feature on the first 1,000 days.
Sources
- French National Authority for Health, “Neonatal screening: HAS involved in the national program,” page updated September 19, 2025.
- French National Authority for Health, “Neonatal screening: which diseases should be screened for?”
- Auvergne-Rhône-Alpes Regional Health Agency, “Neonatal screening: three new diseases screened for as of September 1, 2025.”
- Order of 28 February 2018 on the organization of the national neonatal screening program recommended for the general population.
