Regional Neonatal Screening Center

The CRDN 's mission is to detect and provide early for 6 serious newborn illnesses .

The national neonatal screening program is aimed at all newborns born in France. It aims to detect babies likely to be affected by certain diseases, the frequency of which is rare in the French population. These are 5 severe diseases affecting children early in the absence of treatment:

• phenylketonuria : deficiency of an enzyme which, in the absence of treatment, leads to severe mental retardation and severe neuropsychiatric complications. With a specific diet from 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 in particular to significant mental retardation as well as growth retardation. Treatment with thyroid hormone will allow the child to develop normally.
• congenital adrenal hyperplasia : abnormal functioning of the adrenal glands which can lead to severe dehydration and disorders of growth and genital development. A hormonal treatment adapted from the neonatal period, will allow to face these disorders and to avoid the consequences.
• sickle cell disease : anomaly of red blood cells leading to anemia, painful attacks by obstruction of small blood vessels and repeated infections. It is important that the child with sickle cell disease is taken care of by a specialized team to prevent these complications.
• cystic fibrosis : anomaly of mucous secretions which are abnormally viscous and lead to severe respiratory disorders and digestive complications. The medical care of the child must be adapted in order to reduce the progression of the disease. Sick children are cared for in the Resource and Competence Center for Cystic Fibrosis .
• MCAD deficiency : a disease that causes the body to have difficulty using fat as a source of energy. In the absence of treatment, it can cause comas that can go as far as the death of the child.

Carrying out this screening therefore makes it possible to know very quickly and almost completely which babies are affected by one of these 5 diseases.

In the event of an abnormal result from the screening, a care pathway is set up: the CRDN informs the referent 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 the maternity wards and neonatology departments and compiles monthly statistics which are the subject of an annual report to the supervisory authorities.

The CRDN are to:

• maintain equal access and completeness of the DNN on French territory,
• ensure the quality of the examinations carried out,
• ensure the implementation of efficient organizations,
• report test results.

In practice, neonatal screening consists of taking drops of blood on a blotter, via a prick in the child's heel. It is most often carried out in the maternity ward and after parental consent. It is free and is produced after 72 hours of life; we can also sometimes accept samples from a minimum of 48 hours of life.

The blotters are sent directly or by post to the neonatal screening laboratory of the CRDN . The assay is carried out in a very short time, which makes it possible to make a definitive diagnosis and to set up the appropriate treatment in the event of an abnormal result.

Because there are management solutions, early detection is a real benefit for patients.