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Counselling for thalassaemia

Editorial Team


This audit of the counselling process for couples in the UK whose pregnancies were affected by a major thalassaemia sought to measure how and when genetic risk was identified for each couple, and whether and when prenatal diagnosis was offered. The findings: standard practice of prenatal screening and counselling for haemoglobin disorders was not followed in a large proportion of the couples interviewed, resulting in a number of couples giving birth to a child with thalassaemia major. If they had been offered prenatal diagnosis, some of these couples would have terminated their pregnancies. Although antenatal screening and counselling for haemoglobin disorders are standard practices in the United Kingdom, they are delivered inadequately and inequitably. An explicit national policy is needed, to make early prenatal diagnosis available to all couples.

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