Seeing other family members/friends’ experiences
Some people we talked to had seen other family members or friends with a sickle cell disorder or beta thalassaemia major, and described how this...
How well do people understand the tests offered?
A few people we talked to had actively requested carrier screening, either before or during pregnancy, but most were offered it automatically. For professionals, this raises the question of whether people understand the tests and what the results might show, and whether they have given informed consent.
As is often the case with antenatal serum screening tests, many of the people we talked to saw screening for sickle cell and beta thalassaemia as just another routine blood test in pregnancy and did not expect any bad news. As a result, most paid little attention to what the test was for. Not surprisingly, those with a family history or other prior knowledge of the conditions tended to be more aware of the significance of the test.
Several people felt with hindsight that they had not been fully informed about the test, or prepared enough for the consequences of a ‘positive’ test result. A few people believed it was the law that they had to have the test, although in fact everyone has a right to say they don’t want to be screened.
Professional learning: He felt screening in pregnancy was just a routine part of care. He would…
Professional learning: She did not know what all the blood tests in pregnancy were for. It did…
Professional learning: At first they did not take carrier screening seriously. They’d never heard…
Professional learning: She was willing to go along with whatever tests the NHS offered, but she…
Newborn tests
The introduction of universal newborn screening as part of the heel prick test raises important questions for professionals around informed consent. Some parents having newborn screening already know they may be at risk – for example couples who know they are both carriers but decline antenatal diagnosis because they know they would not consider a termination. Some women who are carriers and whose partners have been unwilling or unable to be screened may also decide to wait until after the birth to find out if the baby is affected. Generally speaking, people in this group have already been counselled during pregnancy. They have actively consented to newborn tests and understand what the results may show, even though getting the results can still be a shock. (See ‘Newborn screening after screening in pregnancy’).
This is very different to people who may never have heard of the conditions and have no reason to believe they or their child will be affected. Most people whose newborn baby is screened will get a negative result and staff will not want to make them needlessly anxious. However, for the few people who are given a positive result, lack of understanding of what they are being tested for and its implications can add to their shock and anxiety. Some people thought it was compulsory to have the tests, while others just accepted it as a routine part of care.
The NHS Screening Committee has produced a booklet ‘Screening tests for you and your baby’ that should be given to all pregnant women by their midwife or GP and it gives information about screening for sickle cell and thalassaemia and how it is tested for in early pregnancy and in newborns..
Gaining the consent of their partners to be screened was a concern for many of the women we talked to. Some men (for example Interviews 01 and 13 above) were very willing to be screened, but several were reluctant, or were unavailable, perhaps because they were out of the country for long periods, or because the relationship had broken up. Some men (and some female partners) found it hard to believe they might be a carrier if they were always fit and healthy. (See ‘Explaining genetics and risk’ for information and video clips about the importance of explaining how recessive inheritance works). Professionals may also find it helpful to read ‘Partner carrier screening’.
Professional learning: They had the heel prick test believing it was compulsory. The results took…
Professional learning: After a difficult birth, she did not pay much attention to the heel prick…
Professional learning: She remembers the midwife taking some blood samples from the baby, but she…
Of course, people may well have been given much more information than they recall. As the parents in Interview 26 point out, just after the birth they had other priorities and it was difficult to absorb information on newborn screening. Similarly the parents in Interview 13 above knew they had had a leaflet about antenatal carrier screening, but in the excitement of a first pregnancy they found it hard to grasp its relevance for them.
The NHS Sickle Cell & Thalassaemia Screening Programme has also introduced the world’s first linked antenatal and newborn screening programme. They are striving to link results from antenatal tests taken by parents-to-be with their baby’s test results which should help provide better and more efficient care. By following people through the screening process it provides the NHS with an automatic check that no-one will slip through the net and that procedures have been followed properly.
What kinds of information do people want?
People facing decisions about screening and diagnosis for sickle cell and beta thalassaemia will differ greatly in their previous knowledge, and also in their personal...