Informed choice in genetic screening for thalassaemia during pregnancy: audit from a national confidential inquiry
Only half of the couples at risk of passing on the haemoglobin disorder thalassaemia to their children have full access to information about their condition and the choices available to them, find the authors of the UK Confidential Inquiry into Antenatal Screening for Thalassaemia published in this week's BMJ.
Antenatal screening for haemoglobin disorders should be standard practice in the United Kingdom, explain Professor Bernadette Modell from University College London and colleagues, in order to identify couples at risk and to give them an informed choice in every pregnancy, including the option of a prenatal diagnosis. This option has been utilised less than expected, say the authors and it is often assumed that this is due to the unacceptability of abortion on genetic grounds, and therefore of prenatal diagnosis, particularly among British Muslims [certain ethnic groups in the UK are at a high risk of such haemoglobin disorders including those of Cypriot, Indian, Pakistani and Bangladeshi origin].
In their study of 138 couples in the UK who had experienced a pregnancy affected by thalassaemia between 1990-1994, Modell et al found that over half of all liveborn infants affected with this haemoglobin disorder, had been the result of a failure in the antenatal screening service. They also found that the service is not provided to many British Pakistanis and Bangladeshis, and they suggest that this is because of ethnic stereotyping, when in fact prenatal diagnosis was found to be highly acceptable to all ethnic groups at risk, especially when offered in the early stages of pregnancy.
The authors conclude that although antenatal screening and counselling for haemoglobin disorders are standard practices in the UK, they are delivered inadequately and inequitably. An explicit national policy is needed, they insist, to make prenatal diagnosis in early stages of pregnancy available to all couples.
Contact:
Professor Bernadette Modell, Professor of Community Genetics, Royal Free and University College London Medical School, Department of Primary Care and Population Sciences, Whittington Hospital, London Email: b.modell@ucl.ac.uk