Paediatrics (RCH) - Theses
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ItemThe implementation of new technologies in prenatal testing: implications for service delivery and genetic counselling( 2012)Background: For the last 35 years, women who wanted to have prenatal diagnosis had no choice but to have an invasive procedure with associated miscarriage risks. Most women who chose to have diagnosis did so because of an increased risk of a Down syndrome pregnancy. The test however, called a karyotype, involves searching for any type of chromosome abnormality, not just Down syndrome. New technologies such as chromosome microarray and non-invasive prenatal testing (NIPT), are being introduced that could change the focus of prenatal testing from increased risk of Down syndrome, to increased risks of outcomes for an even wider range of chromosomally abnormal conditions. Aims: 1. To determine the decisions women who had screening for Down syndrome in their current pregnancy would make, if offered safe diagnostic tests for chromosome abnormalities with different types of clinical outcomes. 2. To determine if the underlying beliefs used to make these decisions varied depending on the clinical outcome of the chromosome abnormality. Method: Questionnaires were administered to pregnant women who had a screening test for Down syndrome in their current pregnancy. The methodology and the analysis were based on the Theory of Planned Behaviour. Measurements included their intentions, attitudes, subjective norm (social pressure) and perceived behavioural control (ability to undertake the test) to having a prenatal diagnostic test for one of four conditions: Down syndrome, Klinefelter syndrome, triple X, or mosaic trisomy 20. Results: 381 women completed the main questionnaires. The percentage intending to test varied by condition: 98% for Down syndrome; 78.4% for Klinefelter syndrome; 74.1% for triple X; 87.6% for mosaic trisomy 20. Women’s overall attitude to the test and their perception of social pressure on their decisions, predicted an intention to test, regardless of the condition. There was a difference between the conditions, for the specific beliefs (e.g. having the test provided an opportunity to terminate an affected pregnancy) and specific people that predicted their intention to test. Conclusion: Not all women who have screening tests for Down syndrome want diagnostic testing for conditions with different types of outcome. They make decisions about testing based on different sets of beliefs which depend on the type of outcome. The introduction of new technologies provides the possibility of offering women a choice as to the type of conditions they want diagnosed and this may result in more informed decisions and less anxiety.