Background: In the UK about 4.5% of the population carry cystic fibrosis, whilst in the inner city areas an even higher proportion carry one of the haemoglobin disorders such as thalassaemia. Couples who both carry the same recessive disorder have a 1 in 4 risk of an affected child in every pregnancy.
Objectives: To assess GPs' confidence in their ability to provide initial prenatal advice for couples carrying common autosomal recessive disorders (either the cystic fibrosis or thalassaemia gene), and their opinions of different approaches for referral to prenatal diagnostic services for such at-risk couples.
Methods: A cross-sectional postal survey of all 644 GPs in 388 general practices in Nottinghamshire. Practices were randomly allocated to receive either the cystic fibrosis or the thalassaemia scenario survey. The survey questions predominantly used six-point Likert scales to assess confidence and opinions of prenatal services.
Results: The questionnaire was returned by 62% (397) of GPs. Only 23% (91) were confident in providing prenatal advice to the at-risk carrier couples. GPs were more confident about advising cystic fibrosis carriers than thalassaemia carriers (P = 0.01). The least popular approach to prenatal service provision was direct referral to prenatal services after counselling with 52% (194) scoring this as useful, whilst 60.5% (233) of GPs scored referral to the obstetric services with the prenatal diagnosis organised by the obstetrician as useful.
Conclusions: GPs perceive that they lack the confidence to provide basic prenatal genetic advice to women at risk of the commonest recessive disorders, with particularly low confidence where the couple both carry thalassaemia. A significant knowledge gap was demonstrated by the poor awareness of the importance of rapid referral to prenatal diagnostic services.