{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,31]],"date-time":"2026-01-31T04:40:05Z","timestamp":1769834405480,"version":"3.49.0"},"reference-count":38,"publisher":"BMJ","issue":"4","funder":[{"name":"French Agency of Biomedicine","award":["AOR 2017-36"],"award-info":[{"award-number":["AOR 2017-36"]}]}],"content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["J Med Genet"],"accepted":{"date-parts":[[2022,7,9]]},"published-print":{"date-parts":[[2023,4]]},"abstract":"<jats:sec>\n                  <jats:title>Background<\/jats:title>\n                  <jats:p>Low uptake of presymptomatic testing and medically assisted reproduction in families impacted by neurogenetic diseases prompted us to investigate how reproductive options are considered and whether there is a relationship with perceived severity of the disease. We hypothesised that self-estimated severity would influence opinion on reproductive options and that prenatal\/preimplantation diagnosis would be a motivation to inform relatives about their risk.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Methods<\/jats:title>\n                  <jats:p>We invited people impacted by neurogenetic diseases to evaluate the severity of their familial disease using analogic visual scales and to answer questionnaires about reproductive choices and intrafamilial communication. We compared answers between diseases and with the perceived severity of each disease.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>We analysed 562 questionnaires. Participants were impacted by Huntington disease (n=307), spinocerebellar ataxias (n=114), Steinert myotonic dystrophy (n=82) and amyotrophic lateral sclerosis\/frontotemporal dementia (n=59). Self-estimated severity differed between pathologies (p&lt;0.0001). Overall, participants considered prenatal diagnosis (78.0\u00b134.4 out of 100) and preimplantation diagnosis (75.2\u00b136.1 out of 100) justified more than termination of pregnancy (68.6\u00b138.5 out of 100). They were less in favour of gamete donation (48.3\u00b139.8 out of 100) or pregnancy abstention (43.3\u00b140.3 out of 100). The greater the perceived severity of the disease, the more reproductive options were considered justified, except for gamete donation. Prenatal\/preimplantation diagnosis was a motivation to inform relatives for only 55.3% of participants (p=0.01).<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusion<\/jats:title>\n                  <jats:p>Self-estimated severity minimally impacts opinions towards reproductive options. Medically assisted reproduction procedures are rarely sought and do not motivate familial communication.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1136\/jmg-2022-108477","type":"journal-article","created":{"date-parts":[[2022,10,31]],"date-time":"2022-10-31T08:28:26Z","timestamp":1667204906000},"page":"346-351","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":7,"title":["Reproductive choices and intrafamilial communication in neurogenetic diseases with different self-estimated severities"],"prefix":"10.1136","volume":"60","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2888-3226","authenticated-orcid":false,"given":"Lucie","family":"Pierron","sequence":"first","affiliation":[{"name":"Genetics Department, University Hospital Piti\u00e9 Salp\u00eatri\u00e8re, Paris, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2866-4330","authenticated-orcid":false,"given":"Sophie","family":"Tezenas du Montcel","sequence":"additional","affiliation":[{"name":"Institut Pierre Louis de Sant\u00e9 Publique, Medical Information Unit, Sorbonne Universit\u00e9, Paris, France"},{"name":"Sorbonne Universit\u00e9 and Paris Brain Institute, Inserm, CNRS, AP-HP, Piti\u00e9- Salp\u00eatri\u00e8re Hospital, Paris, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna","family":"Heinzmann","sequence":"additional","affiliation":[{"name":"Genetics Department, University Hospital Piti\u00e9 Salp\u00eatri\u00e8re, Paris, France"},{"name":"Sorbonne Universit\u00e9 and Paris Brain Institute, Inserm, CNRS, AP-HP, Piti\u00e9- Salp\u00eatri\u00e8re Hospital, Paris, 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