Handbook of Genetic Counseling/Cystic Fibrosis Carrier Screening-1

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Cystic Fibrosis Carrier Screening

Disease Characteristics[edit]

  • Autosomal recessive (use visual aide to describe)
  • Build up of mucus in lungs and pancreas
  • Failure to thrive
  • Diarrhea
  • Pneumonia
  • Small intestine obstruction
  • Pulmonary disease
  • Pancreatic disease
  • Male infertility
  • Survival rate= aprox. average of 35 years
  • Cognitive function is typically not impaired

Incidence rates[edit]

  • 1/3300 live births - Caucasian
  • 1/15300 - African American
  • 1/32000- Asian

Carrier frequencies[edit]

  • 1/26 in the Ashkenazi Jewish Population
  • 1/25 N. and S. European
  • 1/46 Hispanic
  • 1/60 African American
  • 1/90 Asian American

Who should be tested[edit]

  • Individuals with a family history and their partners
  • Couples planning pregnancy from the high risk ethnic backgrounds
  • Gamete donors
  • Spouses of a known carrier
  • NIH recommended in April 1999 that all pregnant couples get offered this test and all planning pregnancies

Types of testing[edit]

  • DNA - PCR using DF508 and 7 other mutations (use visual aide to describe)
    • Done by a multiple of centers
    • $235.00
    • Turnaround time is 7-10 days
    • Carrier test detection rate
      • 80-90% (depends on center)
    • Blood sample
      • 10-15cc
      • lavender EDTA
  • DNA chip - 86 mutations
  • Linkage - extremely rare mutations in a family

Notes[edit]

The information in this outline was last updated in 2002.