Screening for sickle cell and beta thalassaemia

Timing and delay

People have concerns about several aspects of timing in the process of screening and diagnosis, especially when tests are carried out, and when results and counselling would be available.

Several people said that, while they had valued the opportunity to have antenatal or newborn screening, it would be even better to have screening before pregnancy or even before entering a relationship with someone. (See also 'Telling people you are a carrier - implications for relationships and marriage').

Within pregnancy, several people said the earlier screening and diagnosis was carried out the better. 

Some people felt they could only consider a termination if it was early in pregnancy, whether for personal, emotional reasons or for religious reasons. 

(See 'Values and religious beliefs' for more discussion about Islamic perspectives on antenatal diagnosis and termination). 

Others would still have considered a termination later on, but felt the longer they had to wait the more distressing it would be. As one father said, “Every single day that you're waiting, you felt, 'Oh, my God, this is such a precious thing.' So you feel more attached, and therefore if the termination does come, it would be even more painful.”

A degree of waiting between the different steps in the process is inevitable, but as the father in Interview 13 explains, the anxiety of waiting for results can be made worse by uncertainty over when they will arrive. He felt strongly that it was important for staff to give parents a clear and realistic timetable. He also suggested that a supportive telephone call from a counsellor during this waiting period would be helpful, just to ask if they were OK. The National Screening Programme and the National Institute for Health and Clinical Excellence recommend that parents screened antenatally should be informed of the process and timing for getting results after screening. The standards being developed by the National Screening Programme encourage the availability of results by 5 working days after the screening test.

Delays in the process of care may happen for various reasons, sometimes because people do not realise they are pregnant or delay getting in touch with health services, or because of administrative or staffing problems.

Many people said how important it was to be able to speak to someone about their results as soon as possible, who could explain in detail about inheritance, carrier status and the nature of the conditions. It should also be someone who had specialist expertise in the topic. Receiving a letter and having to wait to be able to talk to someone was especially worrying. 

See also sections on 'Communicating results' and 'Explaining genetics and risk'

Last reviewed September 2015.
Last updated August 2010.

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