Review of outcomes of neonatal screening for cystic fibrosis versus non-screening in Europe

J Pediatr. 2005 Sep;147(3 Suppl):S15-20. doi: 10.1016/j.jpeds.2005.08.009.


We reviewed the published results of European prospective cohort and controlled studies and 1 randomized controlled study to assess whether newborn screening (NBS) for cystic fibrosis (CF) leads to an improved prognosis. We used long-term survival, early mortality, nutritional and pulmonary status, and the number of hospital admissions as outcome measures. Effects on reproductive behavior of the parents and relatives were also assessed. In 2 studies, a similar trend for improved long-term survival rate of the screened cohort was observed, whereas in 2 other studies CF NBS appeared to prevent CF-related deaths in infancy and early childhood. Screened patients born in the last 2 decades showed normal growth for height and weight from infancy until late childhood. In most studies, patients who were screened were found to have less lung damage than their non-screened peers. CF NBS significantly reduced the number of affected children who ever required hospitalization. In Brittany, France, a reduction of 15.7% in CF prevalence at birth was attributed to the introduction of a NBS program for CF. We conclude that there is accumulating evidence that CF NBS prevents early CF-related deaths and leads to a substantial and prolonged health gain for patients with CF.

Publication types

  • Review

MeSH terms

  • Adolescent
  • Child
  • Child Mortality
  • Child Nutrition Disorders / etiology
  • Child, Preschool
  • Cohort Studies
  • Cystic Fibrosis / complications
  • Cystic Fibrosis / diagnosis*
  • Cystic Fibrosis / mortality
  • Cystic Fibrosis / therapy
  • Early Diagnosis
  • Europe / epidemiology
  • Evidence-Based Medicine
  • Forced Expiratory Volume
  • Health Status
  • Humans
  • Infant
  • Infant, Newborn
  • Neonatal Screening / organization & administration*
  • Nutritional Status
  • Outcome Assessment, Health Care
  • Patient Admission / statistics & numerical data
  • Prognosis
  • Prospective Studies
  • Randomized Controlled Trials as Topic
  • Survival Rate