Why screen for cystic fibrosis? A clinician's view

Cystic fibrosis (CF) is relatively common, serious, and causes progressive lung damage. Clinical diagnosis may be delayed until lung damage has occurr ed, and infection may start as early as six weeks of life. A well organised screening programme should identify the great majority of affected infants within the first three weeks after birth, which leaves a small time window during which effective preventive treatment and surveillance may be instit uted. Active treatment, whether for screened or unscreened infants, improve s clinical status and lone-term survival of CF patients. It is anticipated that new treatments will become available within the next few years, and th ese will clearly give maximal benefit to young infants if instituted before lung damage is evident. In addition to any hypothetical effects on morbidi ty and survival, pre-symptomatic diagnosis greatly improves the doctor-pare nt relationship. Economic arguments may be distorted, but, at best, screeni ng is cost-beneficial, and, at worst, it is cost-neutral. The overwhelming majority of CF professionals and parents universally support neonatal scree ning, so the onus is therefore on those who oppose screening to prove that their approach offers a superior strategy.