Pilot study of the acceptability of cystic fibrosis carrier testing during routine antenatal consultations in general...

In 1989, the gene for cystic fibrosis was cloned and it became possible to detect carriers of the gene among the general population, including pregnant women.

The aim of the pilot study was to assess the acceptability of integrating cystic fibrosis carrier testing into antenatal care by general practitioners at the first booking appointment.

Between 1 September 1991 and 31 August 1992, inclusive, all patients receiving routine antenatal care in a two-partner training practice in south Manchester were offered carrier testing for cystic fibrosis using a computer protocol for antenatal care developed by the practice. A questionnaire including a Spielberger state-trait anxiety inventory was sent to patients 2 weeks after they received the results of their carrier test, and interviews with the patients in their home were carried out 4 weeks and one year after they received the result.

All but one patient (75 out of 76) booking before 14 weeks of pregnancy accepted the offer of cystic fibrosis carrier testing, and 96% (72 out of 75) felt that they had made the right decision and that they had enough time for discussion with their general practitioner before testing.

Cystic fibrosis carrier testing can be successfully integrated into the antenatal booking appointment in general practice and is acceptable to patients. This is a model for other genetic screening opportunities resulting from advances in medical genetics.