Cystic fibrosis

 

  1. Northern European ancestry: 1 in 25 are carriers
  2. 95% of new cases of CF will be detected by newborn screening
  3. Refer to a paediatrician/respiratory physician for sweat test where there is clinical suspicion of CF regardless of the newborn screening result
  4. All 1° relatives of an affected child should be referred to Genetics Services for cascade testing
  5. Only the common mutations for cystic fibrosis are tested in carrier screening
  6. Prenatal genetic diagnosis is available for CF.
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