Genetic risk for Huntington Disease and reproductive decision-making: A systematic review.

Autor: Fahy N; ADAPT Lab, Research Department of Clinical Educational and Health Psychology, University College London, London, UK., Rice C; ADAPT Lab, Research Department of Clinical Educational and Health Psychology, University College London, London, UK., Lahiri N; St George's University Hospitals NHS Foundation Trust & St Georges, University of London, IMBE, London, UK., Desai R; ADAPT Lab, Research Department of Clinical Educational and Health Psychology, University College London, London, UK., Stott J; ADAPT Lab, Research Department of Clinical Educational and Health Psychology, University College London, London, UK.
Jazyk: angličtina
Zdroj: Clinical genetics [Clin Genet] 2023 Aug; Vol. 104 (2), pp. 147-162. Date of Electronic Publication: 2023 Apr 24.
DOI: 10.1111/cge.14345
Abstrakt: Huntington Disease (HD) is an incurable autosomal dominant single gene neurodegenerative disorder. Typical onset is between 30 and 40 years and characterised by motor difficulties, cognitive impairment, and behavioural and personality changes. The availability of reproductive testing means that affected and at-risk individuals can make reproductive decisions with genetic risk in mind. We aimed to summarise the literature on reproductive decision-making in the context of HD risk in terms of outcomes and the subjective experiences of at-risk individuals. Five databases were searched. Findings were synthesised using Framework analysis to identify common factors across results of quantitative and qualitative studies. Twenty five studies met inclusion criteria. Framework analysis identified the following key areas: 'The relationship between reproductive intentions and HD genetic risk', 'Views on assistive options', 'Complexity and challenges in reproductive decision-making', 'Actual reproductive outcomes', and 'Other factors influencing reproductive decision-making'. Quality of included studies was mixed. Reproductive decision making in the context of HD risk was found to be a complex and emotionally challenging process. Further research is required into reproductive decision-making and outcomes among those not utilising assistive options, and in developing a model of reproductive decision-making in HD.
(© 2023 The Authors. Clinical Genetics published by John Wiley & Sons Ltd.)
Databáze: MEDLINE