Reproductive decision-making in the context of inheritable conditions that affect appearance: Lived experiences and perspectives.

Authors

Kerry Montgomery, Diana Harcourt

Published in

Journal of community genetics. Volume 17. Issue 4. Jul 31, 2026. Epub Jul 31, 2026.

Abstract

Inheritable conditions that affect appearance can influence a range of life experiences shaped by social, emotional, and cultural factors. For individuals with such conditions (e.g., craniofacial conditions), considerations about having children may be further complicated by the possibility of passing on the condition and its associated social challenges. This study explored how the visibility of inheritable conditions that affect appearance influences reproductive decision-making, with particular attention to decisions about having children and the use of reproductive technologies. Semi-structured interviews were carried out with 18 participants (16 female; 2 male) with a range of visible skin conditions (e.g., neurofibromatosis) and craniofacial conditions (e.g., Treacher Collins Syndrome) who had either considered having children, were currently pregnant or trying to conceive, or had had children within the last five years. Interviews were analysed using reflexive thematic analysis and revealed four main themes. In theme one, "Coping and adaptation in caring for a child with a visible difference". parents described an emotional journey from initial distress toward solution-focused coping as they adapted to caring for a child with a visible difference, drawing on their own lived experiences as both a burden and a resource. Theme two, "Social perceptions, stigma, and responsibility in reproductive decision-making" illustrates how societal attitudes, stigma, and memories of negative school experiences shaped reproductive decisions, particularly views on natural conception, IVF-PGT, and termination. Theme three, "Managing uncertainty and control in reproductive choices" captured participants' strategies to manage risk and regain a sense of control through prenatal testing and assisted reproduction, while navigating complex ethical dilemmas. Finally, in theme four, "Patient-identified needs as a framework for improved support" participants emphasised the need for unbiased genetic counselling, practical psychosocial support, and opportunities for peer connection. Overall, this study demonstrates that individuals draw on their lived experiences and anticipate stigma their children may face. These social considerations strongly influence choices around having children and reproductive technologies. The findings underline the importance of genetic counselling that explicitly recognises the role of stigma and societal attitudes, enabling practitioners to better support individuals in making informed decisions.

PMID:
42533209
Bibliographic data and abstract were imported from PubMed on 31 Jul 2026.

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