Women's understanding and attitudes towards Down syndrome and other genetic conditions in the context of prenatal screening
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In order to explore the impact of potential new technologies in the area of prenatal screening, we conducted a baseline study using qualitative interviews to explore women’s attitudes and knowledge regarding current and future prenatal screening technology and methods. Three cohorts were interviewed, including healthy women without children, healthy women with healthy children, and healthy women with children who have de novo genetic disorders. This study aimed to assess the baseline understanding and attitudes of women in Western Australia. Women from each cohort demonstrated adequate knowledge of the differences between screening and diagnostic tests, but were mostly unaware of the conditions for which screening is currently available except Down syndrome. Women who had children with de novo genetic conditions were generally aware of more genetic conditions than women with or without healthy children. Most women recognised the genetic basis for the conditions mentioned. Two thirds of women understood that Down syndrome is a chromosomal condition; just one third recognised that the phenotype is variable. Most women expressed a positive attitude towards Down syndrome. Social acceptance of children with Down syndrome was commonly mentioned as a concern. While the majority of women with children supported screening for Down syndrome, they emphasised that it must be an autonomous choice. General knowledge of genetic conditions illustrated that women are exposed to diverse conditions from lived experience as well as the media.
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Pikora, T.; Bourke, J.; Bathgate, Katherine; Foley, K.; Leonard, H. (2014)Objective: To examine the prevalence of medical conditions and use of health services among young adults with Down syndrome and describe the impact of these conditions upon their lives. Methods: Using questionnaire data ...
Impact of prenatal screening and diagnostic testing on trends in Down syndrome births and terminations in Western Australia 1980 to 2013Maxwell, S.; Bower, C.; O'Leary, Peter (2015)© 2015 John Wiley & Sons, Ltd. Objective: To assess how prenatal screening and diagnostic testing have impacted the diagnosis, termination and birth prevalence of Down syndrome in Western Australia (1980-2013). Method: ...
Socio-demographic disparities in the uptake of prenatal screening and diagnosis in Western AustraliaMaxwell, Susannah; Brameld, Kate; Bower, C.; Dickinson, J.; Goldblatt, J.; Hadlow, N.; Hewitt, B.; Murch, A.; Murphy, A.; Stock, R.; O'Leary, Peter (2011)Introduction: Since the early 1980s, prenatal screening using ultrasound and biochemical markers has been used to refine the risk of Down syndrome and other fetal anomalies prior to considering fetal karyotyping. The ...