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

Objective National audit of informed choice in antenatal screening for thal assaemia. Design Audit from the UK Confidential Enquiry into Counselling for Genetic Disorders. Setting Thalassaemia module of the UK Confidential Enquiry into Counselling for Genetic Disorders. Subjects 138 of 156 couples who had had a pregnancy affected by a major bet a thalassaemia from 1990 to 1994. Main outcome measures How and when genetic risk was identified for each cou ple, and whether and when prenatal diagnosis was offered. Results Risk was detected by screening before or during the first pregnancy in 49% (68/138) of couples and by diagnosis of an affected child in 28% (3 8/138) of couples. Prenatal diagnosis was offered in 69% (274/400) of pregn ancies, ranging from 94% (122/130) fur British Cypriots to 54% (80/149) for British Pakistanis and from 90% in the south east of England to 39% in the West Midlands. Uptake of prenatal diagnosis was 80% (216/274), ranging fro m 98% (117/120) among British Cypriots in either the first or second trimes ter to 73% (35/48) among British Pakistanis in the first trimester and 39% (11/28) in the second trimester. A demonstrable service failure occurred in 28% (110/400) of pregnancies, including 110 of 126 where prenatal diagnosi s was not offered and 48 of 93 that ended with an affected liveborn infant. Conclusion Although antenatal screening and counselling fur haemoglobin dis orders are standard practices in the United Kingdom, they are delivered ina dequately and inequitably. An explicit national policy is needed, aiming to make prenatal diagnosis in the first trimester available to all couples an d including ongoing national audit.