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.
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Notes
De novo refers to a gene mutation present for the first time in an individual without either parent having the mutation.
C1.n = Cohort 1, participant n.
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Human Studies and Informed Consent
The study was granted approval by the Human Research Ethics Office at Curtin University (Ethics approval number HR98/2014). All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional research committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards.
Informed consent was obtained from all individual participants included in the study.
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Long, S., O’Leary, P., Lobo, R. et al. Women’s Understanding and Attitudes towards Down Syndrome and Other Genetic Conditions in the Context of Prenatal Screening. J Genet Counsel 27, 647–655 (2018). https://doi.org/10.1007/s10897-017-0167-7
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DOI: https://doi.org/10.1007/s10897-017-0167-7