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Greengross et al. [(1999) J Med Screen 6, 3-10] have evaluated the uptake and outcomes of a universal antenatal screening programme for thalassaemias and sickle cell disease in a hospital serving a London borough in which 45% of the population come from ethnic minorities. The survey covers a 10-year period and a total of nearly 1700 pregnancies. All women booking into the antenatal clinic were offered testing. Those who tested positive were offered counselling and partner testing, with the option of prenatal diagnosis of the fetus if both partners were positive. Women at risk of beta-thalassaemia tended to book earlier than women at risk of sickle cell disease, and if test results were positive were more likely to proceed through every stage of the screening programme. The uptake of initial counselling was high in both groups (83% for sickle cell disease and 93% for beta-thalassaemia) but only 22% of couples found to be at risk of having a child with sickle cell disease accepted prenatal diagnosis, compared with 90% for beta-thalassaemia.

Comment: As Greengross et al point out, there are probably several reasons for the difference in outcomes for sickle cell disease and beta-thalassaemia. The later booking time for women at risk of sickle cell disease might make prenatal diagnosis a less acceptable option, while improved treatments for sickle cell disease might make the possible birth of an affected child less feared. There may also be differences in attitude to antenatal screening and prenatal diagnosis among different ethnic groups. The high uptake of counselling in both groups suggests that this service is valued, so efforts to achieve early booking of all pregnancies may improve the availability of informed choice for all couples at risk.