Piña-Aguilar, R., Simpson, S.A., Alshatti, A. et al. (17 more authors) (2019) 27 years of prenatal diagnosis for Huntington disease in the United Kingdom. Genetics in Medicine, 21 (7). pp. 1639-1643. ISSN 1098-3600
Abstract
Purpose
There is little long-term, population-based data on uptake of prenatal diagnosis for Huntington disease (HD), a late-onset autosomal dominant neurodegenerative disorder, and the effect of the availability of preimplantation genetic diagnosis (PGD) on families’ decisions about conventional prenatal diagnosis is not known. We report trends in prenatal diagnosis and preimplantation diagnosis for HD in the United Kingdom since services commenced.
Methods
Long-term UK-wide prospective case record-based service evaluation in 23 UK Regional Genetic Centres 1988–2015, and four UK PGD centers 2002–2015.
Results
From 1988 to 2015, 479 prenatal diagnoses were performed in the UK for HD. An exclusion approach was used in 150 (31%). The annual rate of HD prenatal diagnosis has remained around 18 (3.5/million) over 27 years, despite a steady increase in the use of PGD for HD since 2002.
Conclusion
Although increasing number of couples are choosing either direct or exclusion PGD to prevent HD in their offspring, both direct and exclusion prenatal diagnosis remain important options in a health system where both PGD and prenatal diagnosis are state funded. At-risk couples should be informed of all options available to them, preferably prepregnancy.
Metadata
Item Type: | Article |
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Authors/Creators: |
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Copyright, Publisher and Additional Information: | © 2018 American College of Medical Genetics and Genomics. This is an author produced version of a paper subsequently published in Genetics in Medicine. Uploaded in accordance with the publisher's self-archiving policy. |
Keywords: | Huntington disease; chorionic villi; amniocentesis; neurodegenerative disorders; preimplantation genetic diagnosis |
Dates: |
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Institution: | The University of Sheffield |
Academic Units: | The University of Sheffield > Faculty of Medicine, Dentistry and Health (Sheffield) > School of Health and Related Research (Sheffield) > ScHARR - Sheffield Centre for Health and Related Research |
Depositing User: | Symplectic Sheffield |
Date Deposited: | 19 Nov 2018 10:28 |
Last Modified: | 17 May 2024 10:50 |
Status: | Published |
Publisher: | Springer Nature |
Refereed: | Yes |
Identification Number: | 10.1038/s41436-018-0367-z |
Open Archives Initiative ID (OAI ID): | oai:eprints.whiterose.ac.uk:138301 |