Neonatal screening for sickle cell disease in metropolitan France

Following the experimental program initiated in Martinique and Guadeloupe since 1983, a neonatal screening for sickle cell disease was extended to metropolitan France in 1990. It is presently applied to at risk newborns based on the parents ethnic origin, and associated with the screening for phenylketonuria, hypothyroidism and congenital adrenal hyperplaxia, in three regions. The laboratory method is reliable with a very limited number of false positive of false negative results. The cost effectiveness ratio appears very reasonable. All the children detected so far are correctly managed and have a normal development. This screening should be extended to the rest of France in the coming years.