{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,28]],"date-time":"2026-08-28T20:20:26Z","timestamp":1787948426236,"version":"build-2784847793"},"reference-count":30,"publisher":"Springer Science and Business Media LLC","issue":"4","license":[{"start":{"date-parts":[[2026,7,31]],"date-time":"2026-07-31T00:00:00Z","timestamp":1785456000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2026,7,31]],"date-time":"2026-07-31T00:00:00Z","timestamp":1785456000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"DOI":"10.13039\/100018379","name":"VTCT Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100018379","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J Community Genet"],"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    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,\n                    <jats:italic>\u201cCoping and adaptation in caring for a child with a visible difference\u201d<\/jats:italic>\n                    . 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,\n                    <jats:italic>\u201cSocial perceptions<\/jats:italic>\n                    ,\n                    <jats:italic>stigma<\/jats:italic>\n                    ,\n                    <jats:italic>and responsibility in reproductive decision-making\u201d<\/jats:italic>\n                    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,\n                    <jats:italic>\u201cManaging uncertainty and control in reproductive choices\u201d<\/jats:italic>\n                    captured participants\u2019 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,\n                    <jats:italic>\u201cPatient-identified needs as a framework for improved support\u201d<\/jats:italic>\n                    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.\n                  <\/jats:p>","DOI":"10.1007\/s12687-026-00926-3","type":"journal-article","created":{"date-parts":[[2026,7,31]],"date-time":"2026-07-31T01:59:02Z","timestamp":1785463142000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Reproductive decision-making in the context of inheritable conditions that affect appearance: Lived experiences and perspectives"],"prefix":"10.1007","volume":"17","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2075-6422","authenticated-orcid":false,"given":"Kerry","family":"Montgomery","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4285-5678","authenticated-orcid":false,"given":"Diana","family":"Harcourt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2026,7,31]]},"reference":[{"issue":"11","key":"926_CR1","doi-asserted-by":"publisher","first-page":"1412","DOI":"10.1177\/1055665620987109","volume":"58","author":"K Ardouin","year":"2021","unstructured":"Ardouin K, Hotton M, Stock NM (2021) Interpersonal relationship experiences in adults born with cleft lip and\/or palate: a whole-of-life survey in the United Kingdom. Cleft Palate Craniofac J 58(11):1412\u20131421. https:\/\/doi.org\/10.1177\/1055665620987109","journal-title":"Cleft Palate Craniofac J"},{"issue":"1","key":"926_CR2","doi-asserted-by":"publisher","first-page":"33","DOI":"10.1007\/s12687-015-0247-z","volume":"7","author":"J Barke","year":"2016","unstructured":"Barke J, Coad J, Harcourt D (2016) Parents\u2019 experiences of caring for a young person with neurofibromatosis type 1 (NF1): a qualitative study. J community Genet 7(1):33\u201339. https:\/\/doi.org\/10.1007\/s12687-015-0247-z","journal-title":"J community Genet"},{"key":"926_CR3","doi-asserted-by":"publisher","DOI":"10.1038\/s44271-024-00056-x","volume":"2","author":"KR Bogart","year":"2024","unstructured":"Bogart KR (2024) Increasing disability inclusion through self-relevant research. Commun Psychol 2:9. https:\/\/doi.org\/10.1038\/s44271-024-00056-x","journal-title":"Commun Psychol"},{"key":"926_CR4","doi-asserted-by":"publisher","first-page":"589","DOI":"10.1080\/2159676X.2019.1628806","volume":"11","author":"V Braun","year":"2019","unstructured":"Braun V, Clarke V (2019) Reflecting on reflexive thematic analysis. Qualitative Res sport Exerc health 11:589\u2013597. https:\/\/doi.org\/10.1080\/2159676X.2019.1628806","journal-title":"Qualitative Res sport Exerc health"},{"issue":"1","key":"926_CR5","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1080\/26895269.2022.2129597","volume":"24","author":"V Braun","year":"2023","unstructured":"Braun V, Clarke V (2023) Toward good practice in thematic analysis: avoiding common problems and be (com) ing a knowing researcher. Int J Transgend Health 24(1):1\u20136. https:\/\/doi.org\/10.1080\/26895269.2022.2129597","journal-title":"Int J Transgend Health"},{"key":"926_CR6","doi-asserted-by":"crossref","unstructured":"Braun V, Clarke V, Hayfield N, Davey L, Jenkinson E (2023) Doing reflexive thematic analysis. Supporting research in counselling and psychotherapy: Qualitative, quantitative, and mixed methods research. Springer International Publishing, Cham, pp 19\u201338","DOI":"10.1007\/978-3-031-13942-0_2"},{"key":"926_CR7","volume-title":"Qualitative research in psychology: Expanding perspectives in methodology and design","year":"2021","unstructured":"Camic PM (ed) (2021) Qualitative research in psychology: Expanding perspectives in methodology and design, 2nd ed. American Psychological Association","edition":"2nd ed."},{"key":"926_CR28","doi-asserted-by":"publisher","unstructured":"Craig K, Riggan K, Rubeck S, Meredith S, Allyse M, Michie, M (2023) Never \u201ctotally prepared\u201d: Support groups on helping families prepare for a child with a genetic condition. Journal of Community Genetics 14(3):319\u2013327. https:\/\/doi.org\/10.1007\/s12687-023-00646-y","DOI":"10.1007\/s12687-023-00646-y"},{"key":"926_CR8","doi-asserted-by":"publisher","DOI":"10.1177\/10556656261418375","author":"J Davies","year":"2026","unstructured":"Davies J, Owen A, Burton A (2026) Understanding Appearance Concerns in Young People With Cleft Lip and Palate: A Photo Elicitation Study. Cleft Palate Craniofac J. https:\/\/doi.org\/10.1177\/10556656261418375","journal-title":"Cleft Palate Craniofac J"},{"key":"926_CR27","doi-asserted-by":"publisher","unstructured":"Feragen K, Myhre A, Stock N (2022) \u201cWill you still feel beautiful when you find out you are different?\u201d: Parents' Experiences, Reflections, and Appearance-Focused conversations about their child's visible difference. Qual Health Res 32(1):3\u201315. https:\/\/doi.org\/10.1177\/10497323211039205","DOI":"10.1177\/10497323211039205"},{"issue":"1","key":"926_CR9","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-023-02629-1","volume":"18","author":"H Fournier","year":"2023","unstructured":"Fournier H, Calcagni N, Morice-Picard F, Quintard B (2023) Psychosocial implications of rare genetic skin diseases affecting appearance on daily life experiences, emotional state, self-perception and quality of life in adults: a systematic review. Orphanet J Rare Dis 18(1):39. https:\/\/doi.org\/10.1186\/s13023-023-02629-1","journal-title":"Orphanet J Rare Dis"},{"issue":"7","key":"926_CR10","doi-asserted-by":"publisher","first-page":"2537","DOI":"10.1016\/j.pec.2021.11.027","volume":"105","author":"MP Frigon","year":"2022","unstructured":"Frigon MP, Lavoie M, Emond MJ, Bouchard L, Poitras ME, Tremblay K (2022) Family planning decisional needs assessment for recessive hereditary disorders: insights from carrier couples and professionals. Patient Educ Couns 105(7):2537\u20132545. https:\/\/doi.org\/10.1016\/j.pec.2021.11.027","journal-title":"Patient Educ Couns"},{"issue":"9","key":"926_CR11","doi-asserted-by":"publisher","first-page":"811","DOI":"10.1002\/pd.427","volume":"22","author":"M Garel","year":"2002","unstructured":"Garel M, Gosme-Seguret S, Kaminski M, Cuttini M (2002) Ethical decision-making in prenatal diagnosis and termination of pregnancy: a qualitative survey among physicians and midwives. Prenat Diagn 22(9):811\u2013817. https:\/\/doi.org\/10.1002\/pd.427","journal-title":"Prenat Diagn"},{"key":"926_CR12","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1016\/j.srhc.2017.08.001","volume":"14","author":"M Gee","year":"2017","unstructured":"Gee M, Piercy H, Machaczek K (2017) Family planning decisions for parents of children with a rare genetic condition: a scoping review. Sex reproductive Healthc 14:1\u20136. https:\/\/doi.org\/10.1016\/j.srhc.2017.08.001","journal-title":"Sex reproductive Healthc"},{"key":"926_CR13","doi-asserted-by":"publisher","unstructured":"Harcourt D, Krauter MA, Guest E, Bogart KR (2021) Moving beyond the individual: The impact and importance of sociocultural influences on visible difference. https:\/\/doi.org\/10.1016\/j.bodyim.2025.101900","DOI":"10.1016\/j.bodyim.2025.101900"},{"key":"926_CR14","doi-asserted-by":"publisher","DOI":"10.1016\/j.bodyim.2025.101900","author":"D Harcourt","year":"2025","unstructured":"Harcourt D, Krauter MA, Guest E, Bogart KR (2025) Moving beyond the individual: the impact and importance of sociocultural influences on visible difference. Body Image. https:\/\/doi.org\/10.1016\/j.bodyim.2025.101900","journal-title":"Body Image"},{"key":"926_CR15","doi-asserted-by":"publisher","first-page":"944","DOI":"10.1093\/humupd\/dmab013","volume":"27","author":"T Hughes","year":"2021","unstructured":"Hughes T, Bracewell-Milnes T, Saso S, Jones BP, Almeida PA, Maclaren K, Nikolaou D (2021) A review on the motivations, decision-making factors, attitudes and experiences of couples using pre-implantation genetic testing for inherited conditions. Hum Reprod Update 27:944\u2013966. https:\/\/doi.org\/10.1093\/humupd\/dmab013","journal-title":"Hum Reprod Update"},{"key":"926_CR16","doi-asserted-by":"publisher","first-page":"909","DOI":"10.1007\/s10897-017-0173-9","volume":"27","author":"R Klitzman","year":"2021","unstructured":"Klitzman R (2021) Challenges, dilemmas and factors involved in PGD decision-making: providers\u2019 and patients\u2019 views, experiences and decisions. J Genetic Counselling 27:909\u2013919. https:\/\/doi.org\/10.1007\/s10897-017-0173-9","journal-title":"J Genetic Counselling"},{"key":"926_CR17","volume-title":"Stress, appraisal, and coping","author":"RS Lazarus","year":"1984","unstructured":"Lazarus RS, Folkman S (1984) Stress, appraisal, and coping. Springer publishing company"},{"key":"926_CR18","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0088435","author":"TP Moss","year":"2014","unstructured":"Moss TP, Lawson V, White P (2014) Salience and valence of appearance in a population with a visible difference of appearance: direct and moderated relationships with self-consciousness, anxiety and depression. PLoS One. https:\/\/doi.org\/10.1371\/journal.pone.0088435","journal-title":"PLoS One"},{"key":"926_CR29","doi-asserted-by":"crossref","unstructured":"Plumridge G, Metcalfe A, Coad J, Gill P, Farndon P (2011) The role of support groups in facilitating families in coping with a genetic condition and in discussion of genetic risk information. Health Expect 14(3):255\u2013266","DOI":"10.1111\/j.1369-7625.2011.00663.x"},{"key":"926_CR19","doi-asserted-by":"publisher","DOI":"10.1037\/sah0000528","author":"K Soon","year":"2024","unstructured":"Soon K, Butler S, Beak S (2024) Social rejection and meaning-making in young people with facial dermatological differences. Stigma Health. https:\/\/doi.org\/10.1037\/sah0000528. Advance online publication","journal-title":"Stigma Health"},{"issue":"4","key":"926_CR20","doi-asserted-by":"publisher","first-page":"425","DOI":"10.1597\/13-314","volume":"52","author":"NM Stock","year":"2015","unstructured":"Stock NM, Rumsey N (2015) Starting a family: The experience of parents with cleft lip and\/or palate. Cleft Palate\u2013Craniofacial J 52(4):425\u2013436. https:\/\/doi.org\/10.1597\/13-314","journal-title":"Cleft Palate\u2013Craniofacial J"},{"issue":"3","key":"926_CR21","doi-asserted-by":"publisher","first-page":"257","DOI":"10.1177\/10556656211059966","volume":"60","author":"NM Stock","year":"2023","unstructured":"Stock NM, Costa B, Wilkinson-Bell K, Culshaw L, Kearney A, Edwards W (2023) Psychological and physical health outcomes in adults with craniosynostosis. Cleft Palate Craniofac J 60(3):257\u2013267. https:\/\/doi.org\/10.1177\/10556656211059966","journal-title":"Cleft Palate Craniofac J"},{"key":"926_CR30","doi-asserted-by":"publisher","unstructured":"Stone A (2022) Negative perceptions of people with facial disfigurement depend on a general attitude rather than on specific concerns. Stigma and Health 7(3):298\u2013308. https:\/\/doi.org\/10.1037\/sah0000390","DOI":"10.1037\/sah0000390"},{"key":"926_CR22","doi-asserted-by":"publisher","DOI":"10.1016\/j.jobcr.2021.09.011","author":"P Swift","year":"2021","unstructured":"Swift P, Bogart K (2021) A hidden community: The movement for face equality. Psychol Today. https:\/\/doi.org\/10.1016\/j.jobcr.2021.09.011","journal-title":"Psychol Today"},{"key":"926_CR23","doi-asserted-by":"publisher","DOI":"10.1016\/j.pec.2024.108449","author":"J Vanhollebeke","year":"2024","unstructured":"Vanhollebeke J, Van Steijvoort E (2024) Reproductive decision-making of people living with cystic fibrosis and their partners: a systematic review of psychosocial and ethical considerations. Patient Educ Couns. https:\/\/doi.org\/10.1016\/j.pec.2024.108449","journal-title":"Patient Educ Couns"},{"key":"926_CR26","doi-asserted-by":"publisher","unstructured":"Wainstein T, Elliott A, Austin J (2023) Considerations for the use of qualitative methodologies in genetic counseling research. J Genet Couns 32(2):300\u2013314. https:\/\/doi.org\/10.1002\/jgc4.1644","DOI":"10.1002\/jgc4.1644"},{"issue":"4","key":"926_CR24","doi-asserted-by":"publisher","first-page":"12","DOI":"10.1521\/jsyt.1996.15.4.12","volume":"15","author":"TS Zimmerman","year":"2016","unstructured":"Zimmerman TS, Jacobsen RB, MacIntyre M, Watson C (2016) Solution-Focused Parenting Groups: An Empirical Study. J Systemic Ther 15(4):12\u201324. https:\/\/doi.org\/10.1521\/jsyt.1996.15.4.12","journal-title":"J Systemic Ther"},{"key":"926_CR25","doi-asserted-by":"publisher","first-page":"355","DOI":"10.1016\/j.bodyim.2023.03.016","volume":"45","author":"F Zucchelli","year":"2023","unstructured":"Zucchelli F, van Dalen M, Bhatia R, White P, Hamlet C, Harcourt D (2023) Do congenital and acquired causes of visible difference predict distinct appearance-related psychosocial outcomes? Body Image 45:355\u2013361. https:\/\/doi.org\/10.1016\/j.bodyim.2023.03.016","journal-title":"Body Image"}],"container-title":["Journal of Community Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s12687-026-00926-3.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s12687-026-00926-3","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s12687-026-00926-3.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,8,28]],"date-time":"2026-08-28T20:02:21Z","timestamp":1787947341000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s12687-026-00926-3"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,7,31]]},"references-count":30,"journal-issue":{"issue":"4","published-online":{"date-parts":[[2026,8]]}},"alternative-id":["926"],"URL":"https:\/\/doi.org\/10.1007\/s12687-026-00926-3","relation":{},"ISSN":["1868-6001"],"issn-type":[{"value":"1868-6001","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,7,31]]},"assertion":[{"value":"5 March 2026","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"19 July 2026","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"31 July 2026","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"All procedures followed were per the ethical standards of the responsible committee on human experimentation (institutional and national) and with the Helsinki Declaration of 1975, as revised in 2000 (5). The study, including its design and methods, obtained ethical approval from a Research Ethics Committee at the University of the West of England (CHSS.24.03.123).Informed consent to participate and to publish aggregated results with no personally identifiable information was obtained from all participants before being included in the study.","order":1,"name":"Ethics","label":"Ethical approval","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"The authors declare no competing interests.","order":2,"name":"Ethics","label":"Competing interests","group":{"name":"EthicsHeading","label":"Declarations"}}],"article-number":"92"}}