Decision-making and experiences of preimplantation genetic diagnosis in inherited heart diseases: a qualitative study

Decision-making and experiences of preimplantation genetic diagnosis in inherited heart diseases: a qualitative study.

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Item Type: Article
Status: Published
Official URL:
Journal or Publication Title: European Journal of Human Genetics
Date: September 2021
Divisions: Molecular Cardiology
Cardio Genomics
Depositing User: General Admin
Identification Number: 10.1038/s41431-021-00963-1
ISSN: 1018-4813
Date Deposited: 06 Oct 2021 09:20

Preimplantation genetic diagnosis (PGD) ensures a disease-causing variant is not passed to the next generation, including for inherited heart diseases. PGD is known to cause significant emotional burden, but little is known about how parents experience PGD to select against inherited heart disease. We aim to understand how people with inherited heart disease, and their partners, experience and make decisions about PGD. Participants were recruited from a specialised inherited heart disease clinic. Qualitative semi-structured interviews were conducted with adult participants who had considered PGD. A semi-structured interview schedule explored overall experiences and reasons for undergoing PGD. Broad topics included experience of disease, reproductive history, psychosocial and financial considerations. Interviews were recorded, transcribed verbatim and thematically analysed using a framework method. Twenty participants were included (15 with inherited cardiomyopathy, 3 with inherited arrhythmia syndrome and 2 partners). In contemplating PGD, participants considered 3 main issues: past experience of disease e.g. sudden cardiac death, sport restrictions and clinical heterogeneity; intergenerational responsibilities; and practical considerations such as finances and maternal age. Among those who chose to undergo PGD (n = 7/18), past experience of a significant cardiac event, such as family history of sudden cardiac death, was important in the decision process. The decision to undergo PGD for inherited heart disease is complex and influenced by individual values and experience of disease. We highlight key areas where further discussion may assist in PGD decision processes.

© 2021. The Author(s), under exclusive licence to European Society of Human Genetics.

Yeates, Laura
McDonald, Kristie
Burns, Charlotte
Semsarian, Christopher
Carter, Stacy
Ingles, Jodie
Last Modified: 06 Oct 2021 09:20

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