UK screening programme for haemoglobin disorders fails to reach many couples

The UK screening programme for haemoglobin disorderswhich aims to identify couples at risk and offer them an informed choiceperforms fewer prenatal diagnoses than was predicted. This has been attributed to the unacceptability of abortion, particularly to British Muslims. However, Modell et al found, in detailed study of data from the UK confidential inquiry, that only half of all couples at risk had full access to the service (p 337). Many discovered their risk only after the birth of an affected child, and most British Pakistani couples wanted prenatal diagnosis when it was offered early in pregnancy. The authors argue that the variable quality of service provision supports a case for central guidance and audit of genetic screening.

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Informed choice in genetic screening for thalassaemia during pregnancy: audit from a national confidential inquiry

Bernadette Modell, Rodney Harris, Beverley Lane, Maren Khan, Matthew Darlison, Mary Petrou, John Old, Mark Layton, and Lysandros Varnavides
BMJ 2000 320: 337-341. [Abstract] [Full Text] [PDF]