Regional Neonatal Screening Center

The CRDN 's mission is to detect and provide early 6 serious diseases of the newborn.

The national neonatal screening program is for all newborns in France. It aims to detect babies who may be affected by certain diseases that are rare in the French population. These are five serious diseases that affect children early in life if left untreated:

• Phenylketonuria (PKU) : a deficiency of an enzyme which, if left untreated, leads to severe intellectual disability and serious neuropsychiatric complications. With a specific diet starting in the first weeks of life, the child's development will be normal.
• Congenital hypothyroidism : insufficient secretion of thyroid hormones by the thyroid gland, which can lead to significant intellectual disability and growth retardation. Treatment with thyroid hormone will allow the child to develop normally.
• Congenital adrenal hyperplasia : an abnormality in the functioning of the adrenal glands that can lead to severe dehydration and growth and genital development disorders. Appropriate hormonal treatment, starting in the neonatal period, can address these disorders and prevent their consequences.
• Sickle cell disease : an abnormality of red blood cells leading to anemia, painful crises due to blockages in small blood vessels, and recurrent infections. It is important that children with sickle cell disease be cared for by a specialized team to prevent these complications.
• Cystic fibrosis : an abnormality of mucous secretions, which are abnormally viscous, leading to severe respiratory problems and digestive complications. The child's medical care must be tailored to slow the progression of the disease. Children with cystic fibrosis are cared for at the Cystic Fibrosis Resource and Competence Center.
• deficiency MCAD : a disease that causes the body to have difficulty using fat as an energy source. Without treatment, it can lead to comas and even death in children.

This screening therefore makes it possible to know very quickly and almost exhaustively which babies are affected by one of these 5 diseases.

In the event of an abnormal result from the screening, a care pathway is put in place: the CRDN informs the referring pediatrician of the disease who contacts the parents, confirms the diagnosis, and takes charge of the child for treatment.

The CRDN coordinates the implementation of this program and verifies its completeness. It communicates its results monthly to maternity and neonatal units and compiles monthly statistics which are the subject of an annual report to the supervisory authorities.

The CRDN 's commitments are:

• to maintain equal access and the completeness of the DNN (Digital National Database) on French territory,
• to ensure the quality of the examinations performed,
• to ensure the implementation of efficient organizations,
• communicate the screening results.

In practice, newborn screening involves collecting drops of blood onto filter paper via a heel prick. It is most often performed at the maternity ward with parental consent. It is free of charge and is carried out at 72 hours of age; samples may sometimes be taken as early as 48 hours.

The filter papers are sent directly or by mail to the CRDN 's neonatal screening reference laboratory . The analysis is carried out very quickly, allowing for a definitive diagnosis and the implementation of appropriate treatment in the event of an abnormal result.

Because treatment solutions exist, early detection is a real benefit for patients.