Sickle cell screening makes genetic counselling everybody's business

BMJ 2006; 332 doi: (Published 09 March 2006) Cite this as: BMJ 2006;332:570
  1. Zosia Kmietowicz
  1. London

    As the world's first linked newborn and antenatal screening programme for haemoglobinopathies is now being rolled out in England, Zosia Kmietowicz looks at the challenges the programme faces

    By the end of this year all pregnant women in England thought to be at risk of having a child with sickle cell disease will be offered a screening test for the blood disorder. This is in addition to universal screening of pregnant women for thalassaemia.

    The introduction of a national antenatal screening test for the haemoglobinopathies should mean an end to surprise diagnoses among infants presenting with severe overwhelming infections and splenic crises, said Allison Streetly, director of the NHS sickle cell and thalassaemia screening programme. “Ultimately, every baby born with one of the blood disorders should be expected and be the result of an informed choice,” she said. “And appropriate and comprehensive care should be available from birth.”

    The antenatal screening programme for the haemoglobinopathies runs alongside the national programme for screening newborn babies for sickle cell disease. The programmes are the world's first to link results from newborn and antenatal screening. It is also the first time that a national screening programme identifies not only those babies who are affected by a condition but also those who are carriers, and is also the first that systematically informs parents.

    Dr Streetly explained the ethical basis for the programme: …

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