To the Editor: This question was recently posed by Massie and colleagues in an editorial in the Journal.1 We have experience in providing cystic fibrosis (CF) carrier testing in pregnancy and in those planning pregnancy. In 1998, we ran a 12-month pilot program, the Double Testing Program, offering ΔF508 carrier testing to couples attending the John Hunter Hospital, Newcastle, NSW, for nuchal translucency screening. Of 491 participants, 84% chose CF carrier testing; 23 carrier–non-carrier couples were identified, and no carrier–carrier couples. A postnatal questionnaire compared knowledge of CF, anxiety levels and perceptions of the service between non-carrier couples and couples in which one partner was a carrier.2 Both groups were very satisfied with the service, with no increased levels of anxiety.

The second initiative has been to offer CF carrier testing to clients attending the “drop-in” clinic at Hunter Genetics, Newcastle. This clinic has been available for 10 years and provides genetic counselling for clients referred by their general practitioners for pre-pregnancy or pregnancy counselling. Over the past 3 years, there have been 560 occasions of service with CF carrier testing in 499 individuals. Indications for testing include pregnancy screening or a family history of CF. With couples, both are tested for ΔF508, and, if one partner is identified as a carrier, the other partner is tested for 28 other mutations. The area health service, Hunter New England Health, meets the cost of the service and testing — $100 per couple for the ΔF508 test, and $250 for the full mutation screen. Of the 499 individuals, 65 (13%) were found to be CF carriers; after excluding those with a family history of CF, the carrier rate was 5.8%. Twenty carrier–non-carrier couples and one carrier–carrier couple with a family history of CF were identified.

Benefits included enabling the carrier–carrier couple to know their 1 in 4 risk of having a child with CF. Most women who have a child with CF want to avoid having further affected children, and most who have a subsequent pregnancy choose prenatal diagnosis.3 Cascade testing can be offered to carrier families. Non-carrier couples can be reassured that they have a low risk.

The uptake of CF couple screening is low, given that there are over 3500 births annually at the John Hunter Hospital. The main obstacles are lack of awareness and costs. CF tests are not covered by public health funding or by private health insurance, and this issue needs urgent attention. We believe that GPs are best placed to offer CF couple testing. Testing could be incorporated into routine first trimester pregnancy care. We can provide a distance CF learning package, pamphlets and informed consent material to those interested.