{"title":"管理捐精治疗中的遗传病风险:比利时生育诊所的现行做法","authors":"Dorian Accoe , Guido Pennings , Kelly Tilleman , Frauke Vanden Meerschaut , Sandra Janssens , Heidi Mertes","doi":"10.1016/j.rbmo.2024.104352","DOIUrl":null,"url":null,"abstract":"<div><h3>Research question</h3><p>How do fertility clinics in Belgium manage risks for genetic conditions in donor sperm treatment?</p></div><div><h3>Design</h3><p>An electronic questionnaire was distributed to all fertility clinics in Belgium in June 2023, focusing on treatments with anonymous sperm donors from 2018 to 2022. Responses from 15 clinics were analysed anonymously using IBM SPSS statistics.</p></div><div><h3>Results</h3><p>All clinics assessed donor risks, including a personal and family history, conventional karyotyping and (for 83.3% of the clinics) carrier screening for common autosomal recessive conditions. For recipients, 58.3% of the clinics relied only on a personal and family history. Despite efforts, the suspicion or detection of genetic conditions in donor sperm treatment was prevalent, with 9.4 adverse events reported per 100 children born. When adverse events occurred, most clinics (58.3%) would not inform the donor if no additional genetic testing was needed. Around 1 in 4 (26.7%) clinics always informed recipients about an adverse event possibly related to their donor. An equal number (26.7%) categorically ruled out the use of spermatozoa from a donor after an adverse event was traced back to his DNA, and 53.3% would not consider using the donor when the adverse event was not genetically confirmed. For the other clinics, deciding when to disclose new genetic risk information or when to allow the use of a donor linked to an adverse event was a complex matter involving different considerations.</p></div><div><h3>Conclusion</h3><p>Although suspected or detected genetic conditions linked to donor treatments were common, there was wide variation in how Belgian clinics prevented and managed these situations.</p></div>","PeriodicalId":21134,"journal":{"name":"Reproductive biomedicine online","volume":null,"pages":null},"PeriodicalIF":3.7000,"publicationDate":"2024-07-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Managing risks for genetic conditions in donor sperm treatment: current practices in Belgian fertility clinics\",\"authors\":\"Dorian Accoe , Guido Pennings , Kelly Tilleman , Frauke Vanden Meerschaut , Sandra Janssens , Heidi Mertes\",\"doi\":\"10.1016/j.rbmo.2024.104352\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<div><h3>Research question</h3><p>How do fertility clinics in Belgium manage risks for genetic conditions in donor sperm treatment?</p></div><div><h3>Design</h3><p>An electronic questionnaire was distributed to all fertility clinics in Belgium in June 2023, focusing on treatments with anonymous sperm donors from 2018 to 2022. Responses from 15 clinics were analysed anonymously using IBM SPSS statistics.</p></div><div><h3>Results</h3><p>All clinics assessed donor risks, including a personal and family history, conventional karyotyping and (for 83.3% of the clinics) carrier screening for common autosomal recessive conditions. For recipients, 58.3% of the clinics relied only on a personal and family history. Despite efforts, the suspicion or detection of genetic conditions in donor sperm treatment was prevalent, with 9.4 adverse events reported per 100 children born. When adverse events occurred, most clinics (58.3%) would not inform the donor if no additional genetic testing was needed. Around 1 in 4 (26.7%) clinics always informed recipients about an adverse event possibly related to their donor. An equal number (26.7%) categorically ruled out the use of spermatozoa from a donor after an adverse event was traced back to his DNA, and 53.3% would not consider using the donor when the adverse event was not genetically confirmed. For the other clinics, deciding when to disclose new genetic risk information or when to allow the use of a donor linked to an adverse event was a complex matter involving different considerations.</p></div><div><h3>Conclusion</h3><p>Although suspected or detected genetic conditions linked to donor treatments were common, there was wide variation in how Belgian clinics prevented and managed these situations.</p></div>\",\"PeriodicalId\":21134,\"journal\":{\"name\":\"Reproductive biomedicine online\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":3.7000,\"publicationDate\":\"2024-07-03\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Reproductive biomedicine online\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://www.sciencedirect.com/science/article/pii/S1472648324005418\",\"RegionNum\":2,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q1\",\"JCRName\":\"OBSTETRICS & GYNECOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Reproductive biomedicine online","FirstCategoryId":"3","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S1472648324005418","RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"OBSTETRICS & GYNECOLOGY","Score":null,"Total":0}
引用次数: 0
摘要
研究问题 比利时的生育诊所如何管理捐精者精子治疗中的遗传病风险?结果所有诊所都对捐精者进行了风险评估,包括个人和家族病史、常规核型检查和(83.3% 的诊所)常见常染色体隐性遗传病的携带者筛查。对于受者,58.3%的诊所仅依靠个人和家族病史。尽管做出了努力,但在捐精治疗中怀疑或发现遗传病的情况仍很普遍,每 100 个新生儿中就有 9.4 例不良事件报告。当发生不良事件时,如果不需要额外的基因检测,大多数诊所(58.3%)不会通知捐精者。约四分之一(26.7%)的诊所总是告知受捐者可能与捐献者有关的不良事件。同样多的诊所(26.7%)在不良事件追溯到捐精者的 DNA 后,断然排除了使用捐精者精子的可能性,53.3%的诊所在不良事件没有得到基因证实时,不会考虑使用捐精者的精子。对于其他诊所来说,决定何时披露新的遗传风险信息或何时允许使用与不良事件有关的供精者是一个复杂的问题,涉及不同的考虑因素。结论尽管怀疑或检测到与供精者治疗有关的遗传病很常见,但比利时诊所在如何预防和处理这些情况方面存在很大差异。
Managing risks for genetic conditions in donor sperm treatment: current practices in Belgian fertility clinics
Research question
How do fertility clinics in Belgium manage risks for genetic conditions in donor sperm treatment?
Design
An electronic questionnaire was distributed to all fertility clinics in Belgium in June 2023, focusing on treatments with anonymous sperm donors from 2018 to 2022. Responses from 15 clinics were analysed anonymously using IBM SPSS statistics.
Results
All clinics assessed donor risks, including a personal and family history, conventional karyotyping and (for 83.3% of the clinics) carrier screening for common autosomal recessive conditions. For recipients, 58.3% of the clinics relied only on a personal and family history. Despite efforts, the suspicion or detection of genetic conditions in donor sperm treatment was prevalent, with 9.4 adverse events reported per 100 children born. When adverse events occurred, most clinics (58.3%) would not inform the donor if no additional genetic testing was needed. Around 1 in 4 (26.7%) clinics always informed recipients about an adverse event possibly related to their donor. An equal number (26.7%) categorically ruled out the use of spermatozoa from a donor after an adverse event was traced back to his DNA, and 53.3% would not consider using the donor when the adverse event was not genetically confirmed. For the other clinics, deciding when to disclose new genetic risk information or when to allow the use of a donor linked to an adverse event was a complex matter involving different considerations.
Conclusion
Although suspected or detected genetic conditions linked to donor treatments were common, there was wide variation in how Belgian clinics prevented and managed these situations.
期刊介绍:
Reproductive BioMedicine Online covers the formation, growth and differentiation of the human embryo. It is intended to bring to public attention new research on biological and clinical research on human reproduction and the human embryo including relevant studies on animals. It is published by a group of scientists and clinicians working in these fields of study. Its audience comprises researchers, clinicians, practitioners, academics and patients.
Context:
The period of human embryonic growth covered is between the formation of the primordial germ cells in the fetus until mid-pregnancy. High quality research on lower animals is included if it helps to clarify the human situation. Studies progressing to birth and later are published if they have a direct bearing on events in the earlier stages of pregnancy.