title: Review of outcomes of neonatal screening for cystic fibrosis versus non-screening in Europe.
abstract: 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.
authors.affiliation: Department of Pediatrics, Pediatric Pulmonology, Vrije Universiteit Medical Centre, Amsterdam, the Netherlands.
authors.forename: Jeannette E
authors.initials: JE
authors.lastname: Dankert-Roelse
authors.forename: Marieke E
authors.initials: ME
authors.lastname: Mérelle
mesh_terms: D000293:Adolescent; D002648:Child; D046688:Child Mortality; D015362:Child Nutrition Disorders / Q000209:etiology; D002675:Child, Preschool; D015331:Cohort Studies; D003550:Cystic Fibrosis / Q000150:complications / Q000175:diagnosis* / Q000401:mortality / Q000628:therapy; D042241:Early Diagnosis; D005060:Europe / Q000453:epidemiology; D019317:Evidence-Based Medicine; D005541:Forced Expiratory Volume; D006304:Health Status; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D015997:Neonatal Screening / Q000458:organization & administration*; D009752:Nutritional Status; D017063:Outcome Assessment, Health Care; D010343:Patient Admission / Q000706:statistics & numerical data; D011379:Prognosis; D011446:Prospective Studies; D016032:Randomized Controlled Trials as Topic; D015996:Survival Rate