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What the survey covered

 

Participants in the survey were asked a range of questions: demographic (see glossary at the bottom of the page) information about their background and the type of SMA affecting their family; their perceived health (and that of their family member affected by SMA); length of time since any SMA-related bereavement; previous use of prenatal testing for SMA or any other condition(s); views about SMA as a condition, including perceived quality of life and level of support from wider society.

Participants were then asked for their views on three potential screening programmes for SMA; a pre-conception screening programme, a prenatal screening programme and a newborn screening programme. A description of these potential screening programmes is described below:

A pre-conception screening programme would identify ‘carriers’ of SMA (people who have the faulty gene associated with SMA but do not have symptoms of SMA themselves) before they have children, or whilst they are planning a pregnancy, in order to be aware of the chances of having a child with SMA before the baby is conceived.Carrier couples identified through a pre-conception screening programme might then choose to either avoid a pregnancy affected by SMA (through the use of genetic technologies such as Preimplantation Genetic Diagnosis (PGD), the use of donated eggs/sperm from a non-carrier, or by avoiding reproduction altogether) or they may choose to accept the 1 in 4 chance that they will have a baby with some form of SMA.

A prenatal genetic screening programme, through the use of a blood test during routine antenatal care (the usual care all pregnant women receive through the NHS) pregnant women who are carriers of SMA would be identified. Where a pregnant woman is found to be a carrierof SMA, the baby’s father would then be invited to undergo a genetic test to determine his carrier status. This would be done to determine the couple’s overall chance of their foetus (unborn baby) having SMA. If both parents are found to be carriers of SMA, a prenatal diagnostic test (a test that could confirm for certain if the foetus had SMA- although not which Type of SMA) would be offered, and in the event of a positive result, the couple would be offered the option of terminating the pregnancy (having an abortion), or support to continue their pregnancy in the knowledge that their baby would be born with some form of SMA.

Newborn genetic screening would identify babies affected by SMA shortly after their birth through a blood test. The screen for SMA would be included alongside the many other screening tests which are currently routinely offered to parents of newborn babies. However, like the other forms of screening described above, a newborn screen for SMA may not be able to accurately diagnose the Type of SMA the baby has, only whether the baby has SMA or not. Newborn genetic screening could also identify some (but not all) babies who are carriers of SMA. This information could then be passed on to the child when they were old enough to understand the meaning of their carrier status (either by a parent or medical professional) and may be used in their own future reproductive decisions.

Within the SMA Screening Survey (UK), respondents were asked for their views on all three of these potential screening programmes, through their agreement or disagreement with a range of ‘attitude statements’. These attitude statements were developed directly from the views of screening that emerged through the interviews conducted in phase one of the project.

Glossary

Demographic: demographic information is information that can be used to describe the characteristics of a population. Typically, demographic information includes: age, gender, social class, educational level and ethnicity.

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