Cystic fibrosis newborn screening enables diagnosis of elder siblings of recalled infants--additional benefit.

Abstract

The different clinical manifestations of cystic fibrosis, with variable intensity and timing, often delay the diagnosis of this genetic autosomal recessive disorder. Many countries have introduced newborn screening for cystic fibrosis to facilitate diagnosis prior to the development of the disease. The advantages and harms of such screening programmes are regularly reassessed. In the five families presented in this article the elder siblings of screened infants were diagnosed thanks to CF NBS. This is an example of a benefit for children not even directly covered by the screening programme, adding another CF NBS advantage to the balance.