27 years of prenatal diagnosis for Huntington disease in the United Kingdom

Piña-Aguilar, Raul E., Simpson, Sheila A., Alshatti, Abdulrahman, Clarke, Angus ORCID: https://orcid.org/0000-0002-1200-9286, Craufurd, David, Dorkins, Huw, Doye, Karen, Lahiri, Nayana, Lashwood, Alison, Lynch, Colleen, Miller, Claire, Morton, Sally, O'Driscoll, Mary, Quarrell, Oliver W., Rae, Daniela, Strong, Mark, Tomlinson, Charlotte, Turnpenny, Peter and Miedzybrodzka, Zosia 2019. 27 years of prenatal diagnosis for Huntington disease in the United Kingdom. Genetics in Medicine 21 , pp. 1639-1643. 10.1038/s41436-018-0367-z

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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.

Item Type:	Article
Date Type:	Publication
Status:	Published
Schools:	Medicine
Additional Information:	UK HD Predictive Testing Consortium
Publisher:	Springer Nature
ISSN:	1098-3600
Date of First Compliant Deposit:	10 January 2019
Date of Acceptance:	5 November 2018
Last Modified:	08 Nov 2023 08:13
URI:	https://orca.cardiff.ac.uk/id/eprint/118278

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