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Re: Neonatal Screening for Cystic Fibrosis

Dear Editor

I am writing in response to the Neonatal Screening brief on Cystic Fibrosis (CF)[1] reproduced from the Journal of Medical Screening[2]. I strongly dispute the conclusion that there is ‘insufficient evidence that neonatal screening for cystic fibrosis is worthwhile’. It cites the Cochrane review as a source of evidence, however neither the article or the Cochrane review take into account a recent key publication by Scotet et al[3]. They assessed the impact on screening for CF on prenatal diagnosis over 10 years in Brittany, France. 34% of the families identified by neonatal screening opted for subsequent prenatal diagnosis. All those with an affected fetus opted for therapeutic abortion. It has been calculated that it would cost $68 000 to prevent the birth of one baby with CF through prenatal diagnosis compared to an estimated cost of $600 000 over a lifetime spent on medical care[4]. I agree that evidence for screening from randomised double blind placebo controlled trials using surrogate end points are either lacking or inconclusive. However, it is important to bear in mind that parents should be given a choice for therapeutic abortion and the evidence is that screening does alter parental reproductive behaviour and this alone merits the introduction of neonatal screening. Further, the cost-benefit for prenatal screening is conclusive. It is pleasing to see that the Public Health Minister has recently announced that neonatal screening will soon be available in the UK.

References. (1) Screening Brief- Neonatal screening for cystic fibrosis. Arch Dis Child 2001;84:449.

(2) Neonatal screening for cystic fibrosis. J Med Screen 2001;8:51.

(3) Scotet, de Braekeleer, Roussey et al. Neonatal screening for cystic fibrosis in Brittany,France: assessment over 10 years’ experience and impact on prenatal diagnosis. Lancet 2000;356:789-794.