Screening for Cystic Fibrosis (1991)

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RECOMMENDATIONS

  • These is fair evidence not to perform universal newborn screening for DF by DNA analysis or other tests, based on the poor positive predictive value of the sweat, IRT, and "BM meconium" tests and the fact that the recently discovered genetic mutation characterizes only about 50% of people homozygous for CF and about 70% of carriers. (grade D recommendation)
  • Similarly, there is fair evidence not to screen the general population for heterozygote status. (grade D recommendation)
  • Siblings of children with CF should have a sweat test after 4 to 6 weeks of age. (grade B recommendation)
  • First-degree relatives of children with CF should be screened by DNA analysis for carrier status. (grade B recommendation)
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    NOTES

    Recommendations with regard to screening by DNA analysis are based on very new information and are therefore tentative.