Carrier testing

 

  1. The purpose of CF carrier testing is for couples to identify if they are both carriers and therefore have a
    1 in 4 chance of having a baby with CF. In this situation, it is important that carrier testing be performed
    prior to pregnancy, where possible.
  2. If a couple know they are both carriers prior to pregnancy, they are able to consider reproductive options,
    such as having prenatal diagnosis or pre-implantation genetic diagnosis, or to prepare themselves and their obstetric team for the possibility of having a child with CF (see Testing and pregnancy).
  3. Routine carrier testing detects the most common mutations. The panel of mutations that are commonly
    screened for varies amongst the Australian States/Territories. See Contacts, support and testing for
    contact details.
  4. The frequency of particular mutations varies between populations; therefore, knowledge of ethnicity assists carrier testing.
  5. Results are usually available in three to four weeks.
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Who should be offered carrier testing?

 

  1. All 1° relatives of an individual with CF and, if positive, other relatives (see Table 1 for risk of being a carrier).
  2. Partners of individuals with CF.
  3. Partners of carriers for a CFTR mutation.
  4. Couples in close consanguineous relationships, particularly in ethnic groups where the CF carrier rate is high (eg Northern European, Ashkenazi Jewish).
  5. Men who are infertile due to, or suspected to be due to CBAVD, and their partners if they are planning a family.
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Carrier testing in the general population

  1. CF carrier screening is now available in all states in Australia even where there is no family history of CF.
  2. There is currently no Medicare rebate available and there are out-of-pocket costs for the tests, which may be performed by a self-administered cheek brush test.
  3. Information regarding CF screening is available from Genetics Services.
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