Women's Understanding and Attitudes towards Down Syndrome and Other Genetic Conditions in the Context of Prenatal Screening

Abstract

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.

Neuromyths About Neurodevelopmental Disorders: Misconceptions by Educators and the General Public

“…This is a promising finding, inasmuch as it suggests the possibility of improving knowledge of neurodevelopmental disorders by further dissemination of accurate information. Familiarity with neurodevelopmental disorders was not associated with higher knowledge (Long et al, 2018) and we did not replicate the pattern that interest in the brain among those lacking a formal education in neuroscience increased endorsements in neuromyths (Dekker et al, 2012).…”

“…Some of the most common myths regarding individuals with DS concern their language ability (e.g., "What a child with learning difficulties can understand can be measured by what that child can say") (Cologon, 2013). In semi-structured interviews of pregnant women in Australia, knowledge of DS was higher in those who had experience of other genetic disorders (Long, O'Leary, Lobo, & Dickinson, 2018), suggesting a protective role of familiarity against misconceptions.…”

Facilitating informed choice about non-invasive prenatal testing (NIPT): a systematic review and qualitative meta-synthesis of women’s experiences

“…[27]2016A qualitative study looking at informed choice in the context of on-invasive prenatal testing for aneuploidyUnited KingdomThematic Analysis and Adapted Approaches45 womenHow do women experience informed consent for NIPT?Lewis C, Hill M, & Chitty LS. [28]2016Women’s experiences and preferences for service delivery of non-invasive prenatal testing for aneuploidy in a public health setting: a mixed methods studyUnited KingdomThematic Analysis and Adapted Approaches81 womenWhat are women’s experiences with and preferences for NIPT?Li G, Chandrasekharan S, & Allyse M. [68]2017“The top priority is a healthy baby”: narratives of health, disability, and abortion in online forum discussions in the US and ChinaUnited States and ChinaContent AnalysisNot specified; used online forumsHow are the views of Chinese and American individuals around prenatal screening similar and different?Long S, O’Leary P, Lobo R, et al [71]2018Women’s understanding and attitudes towards Down’s syndrome and other genetic conditions in the context of prenatal screeningAustraliaThematic Analysis and Adapted Approaches30 womenHow do women understand current prenatal screening modalities? What do women understand about Down syndrome and other genetic conditions that can be detected through prenatal screening?Mozersky J.…”

“…Women conceptualized and prioritized different aspects of NIPT differently, and the way they valued and used information to make decisions about prenatal screening changed depending on their unique personal and social situations [26, 27, 68–70]. In general, women appreciated the advantages, disadvantages, limitations, and consequences of prenatal testing [24, 27, 63, 66, 71]. However, some misperceptions around the accuracy of NIPT compared with that of invasive diagnostic tests [25, 34, 70], as well as misperceptions around the difference between a screen and a diagnostic test, [25, 71] persisted.…”

“…In general, women appreciated the advantages, disadvantages, limitations, and consequences of prenatal testing [24, 27, 63, 66, 71]. However, some misperceptions around the accuracy of NIPT compared with that of invasive diagnostic tests [25, 34, 70], as well as misperceptions around the difference between a screen and a diagnostic test, [25, 71] persisted. Across the studies in this review there was consistent evidence that the factors of accuracy, physical risk, and test timing were the critical information elements that women focused on and negotiated between to make informed decisions around NIPT and prenatal testing.…”