Screening for sickle cell and beta thalassaemia

Advising people about their options

Most people we talked to felt very positive about the way they had been advised about their options in terms of diagnostic tests and continuing or ending the pregnancy. The discussions with specialist sickle cell and thalassaemia counsellors were particularly valued, even though the content was often distressing. 

Inevitably counsellors face difficulties in judging how much information to give each individual couple at different stages. While this mother was reluctant to hear about termination, another couple felt they would have liked to know much more about this early on.

Most people understood why staff try to be non-directive, but several people commented on how this made it feel a very lonely decision.

(See also further clips from Interview 15 in 'Deciding what to do after diagnosis').

One mother whose partner refused carrier screening during pregnancy felt it might have helped if the midwives had steered her more actively towards having diagnostic tests in pregnancy, or persuaded her to attend the specialist sickle cell centre. 

On the other hand, some people who did not want further tests were pleased that their choice was respected and they were then left alone. One woman explained how her brother and sister-in-law felt staff had been too directive in persuading them to have CVS in their first pregnancy.

Views differed on whether the nature of the conditions had been presented fairly and accurately. Some people felt the information they were given focused mainly on all the problems and complications someone with the condition might face. They would have liked this to be balanced by more examples of how people can live fulfilling lives. Others felt they did not know enough about the problems they might face, especially stroke in sickle cell anaemia. 

One couple who were hoping to have preimplantation genetic diagnosis were shocked at the way beta thalassaemia major was presented to them in their first consultation at a clinic in Italy.

By contrast, another family had lost trust in medical diagnosis and treatment after seeing the experience of various family members, and this had influenced their feelings about whether it was worth having diagnostic tests in pregnancy. While some family members have beta thalassaemia major, and there have been deaths in the family as a result, others appear to have inherited a milder form of the condition.

See also sections on:

'Deciding to have diagnostic tests'

'Reasons for deciding not to have diagnostic tests'

'Deciding what to do after diagnosis'

'Values and religious beliefs'

Last reviewed December 2018.


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