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THE VALUE OF CYSTIC FIBROSIS SCREENING (p 789)

August 30, 2000

Research published in this week's issue of THE LANCET concludes that screening babies for cystic fibrosis provides the opportunity for more reliable prenatal diagnosis of the disease.

The value of screening for the currently incurable disease cystic fibrosis has been the subject of debate over the past few years. Virginie Scotet and colleagues assessed the results of 10 years of screening in Brittany, France, and analysed its effect on parents' use of prenatal diagnosis for subsequent pregnancies.

Between 1989 and 1998, 118 children with cystic fibrosis were identified in Brittany, giving a cumulative incidence of one per 2913 births. 34 different mutations in the cystic fibrosis transmembrane conductance regulator gene were identified. The mean cost of the programme, estimated for 1998, was US$232 per screened child, and US$6825 per child with cystic fibrosis. 39 (34%) of 114 couples with an affected child decided to undergo prenatal diagnosis of at least one subsequent pregnancy. 18 affected fetuses were identified via this process, all of which were electively aborted.

Claude Férec (one of the investigators) comments: "We have shown the feasibility of neonatal screening for cystic fibrosis in Brittany. Through the detection of a large range of mutations, neonatal screening provides the opportunity for more reliable prenatal diagnosis and cascade screening. The neonatal screening programme described in our study could provide a good model for other countries intending to initiate such a scheme".

Contact: Dr Claude Ferec, Centre de Biogenetique, UBO CHU EFS-Bretagne, 46 rue Felix Le Dantec, BP 454, 29275 Brest, Cedex, France; T) +33 2 98 43 05 55; F) +33 2 98 44 50 64; E) Claude.Ferec@univ-brest.fr





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