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Not putting the cart before the horse : the complex social and ethical terrain of prenatal exome sequencing
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Boardman, Felicity K. and Horn, Ruth (2023) Not putting the cart before the horse : the complex social and ethical terrain of prenatal exome sequencing. European Journal of Human Genetics, 31 . pp. 134-135. doi:10.1038/s41431-022-01225-4
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WRAP-Not-putting-the-cart-before-the-horse-the-complex-social-and-ethical-terrain-of-prenatal-exome-sequencing-Boardman-2022.pdf - Published Version - Requires a PDF viewer. Available under License Creative Commons Attribution 4.0. Download (335Kb) | Preview |
Official URL: https://doi.org/10.1038/s41431-022-01225-4
Abstract
Prenatal exome sequencing (PES) for the diagnosis of foetuses ‘with a likely monogenic malformation disorder’ has been available through NHS care in the UK since 2020. Foetuses undergoing PES typically have anomalies that have been identified through sonographic imagining, and in these instances, a molecular diagnosis is sought to inform management of the pregnancy and/or neonatal care. Indeed, across the globe, the benefits of PES when used in addition to chromosomal microarray analysis (CMA), have been widely emphasised. These benefits not only include diagnostic yields, but also the facilitation of informed decision-making regarding pregnancy dis/continuation, early diagnosis, as well as initiation of pre-symptomatic treatment. Despite these important potential benefits, however, the use of genome-wide approaches to prenatal testing also requires careful consideration given the number of ethical issues that have yet to be adequately explored.
Item Type: | Journal Item | |||||||||
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Divisions: | Faculty of Science, Engineering and Medicine > Medicine > Warwick Medical School > Health Sciences Faculty of Science, Engineering and Medicine > Medicine > Warwick Medical School |
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Journal or Publication Title: | European Journal of Human Genetics | |||||||||
Publisher: | Nature Publishing Group | |||||||||
ISSN: | 1018-4813 | |||||||||
Official Date: | February 2023 | |||||||||
Dates: |
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Volume: | 31 | |||||||||
Page Range: | pp. 134-135 | |||||||||
DOI: | 10.1038/s41431-022-01225-4 | |||||||||
Status: | Peer Reviewed | |||||||||
Publication Status: | Published | |||||||||
Access rights to Published version: | Open Access (Creative Commons) | |||||||||
Date of first compliant deposit: | 2 November 2022 | |||||||||
Date of first compliant Open Access: | 7 November 2022 | |||||||||
RIOXX Funder/Project Grant: |
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