Over 40 years of neonatal screening in France: key epidemiological data for several rare diseases.

Neonatal screening officially began in France in 1972. It is organized by the French Association for the Screening and Prevention of Childhood Disabilities (AFDPHE) and operates under the supervision of the Ministry of Health and the CnamTS (National Health Insurance Fund for Salaried Workers). Its main features are: - the gradual implementation of a national prevention program offered to all newborns for five diseases: phenylketonuria (PKU) in 1972, congenital hypothyroidism (CH) in 1978, sickle cell disease in the overseas territories in 1985 and in mainland France, on a targeted basis, in 1995, congenital adrenal hyperplasia (CAH) in 1995, and cystic fibrosis in 2002; - a mandatory link between screening and treatment, as screening is only justified if it ensures an immediate and lasting individual benefit for the affected person; - conclusive results with 99.98% coverage of newborns and care for patients provided by regional referral teams; - centralization of results, enabling epidemiological monitoring of the incidence of each screened disease; - a constant commitment to keeping pace with medical and technological advances (molecular biology, tandem mass spectrometry) to extend this type of prevention to other diseases, while remaining consistent with the screening criteria published in 1970 by the World Health Organization (WHO). Thus, for over 40 years, 33 million newborns have been screened in France and 19,380 diagnosed. In 2013, this corresponded to 1 in 1,900 births for all five screened diseases: 1 in 18,435 for PKU, 1 in 2,870 for HC, 1 in 23,044 for HCS, 1 in 419 for sickle cell disease in the overseas territories and 1 in 793 in mainland France, and 1 in 7,753 for cystic fibrosis.

Author(s): Roussey M, Delmas D

Publishing year: 2015

Pages: 230-8

Weekly Epidemiological Bulletin, 2015, n° 15-16, p. 230-8

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