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Newborn screening for cystic fibrosis
M E Merelle1, C M Lees, A F Nagelkerke
1Department of Pediatrics, Free University Hospital, De Boelelaan 1117, Amsterdam, Netherlands, 1007 MB. Marieke.Merelle@azvu.nl
The Cochrane Database of Systematic Reviews
|May 5, 2000
Summary
Newborn screening for cystic fibrosis (CF) shows limited evidence of benefit but also little harm. Further data is needed to confirm effectiveness and guide clinical practice for early CF diagnosis.
Area of Science:
- Medical Research
- Genetics
- Pediatrics
Background:
- Cystic Fibrosis (CF) is a genetic disorder.
- Early diagnosis and treatment are hypothesized to prevent organ damage and improve quality of life.
- Newborn screening aims for presymptomatic diagnosis and early intervention.
Purpose of the Study:
- To evaluate evidence for improved survival and reduced morbidity from neonatal screening for CF.
- To assess adverse effects of neonatal screening programs.
- To determine the effectiveness of early diagnosis and treatment compared to clinical diagnosis.
Main Methods:
- Systematic review of randomized or pseudorandomized controlled trials.
- Searched Cochrane Cystic Fibrosis and Genetic Disorders Trials Register and other sources.
- Included trials comparing neonatal screening with early treatment versus clinical diagnosis with later treatment.
Main Results:
- Two trials involving over 1.1 million neonates met inclusion criteria.
- One study showed reduced risk of low weight and height in screened infants.
- Limited data precluded pooled analysis; evidence for screening benefit was minimal, as was evidence of harm.
Conclusions:
- Few randomized controlled trials exist for neonatal CF screening effectiveness.
- Current data offers little evidence of benefit or harm from neonatal screening.
- More individual patient data is needed for a comprehensive meta-analysis and to confirm screening efficacy.