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关于PGT-M在癌症倾向综合征中的公众意识和接受度
Davide Calosci1, Lisa Passaglia1, Ilaria Gabbiato1
1Clinical Genetics Unit, Department of Women's and Children's Health, University of Padova, Via Giustiniani 3, 35128 Padova, Italy.
Genes
|November 25, 2023
概括
对于遗传性癌症综合征的单一性疾病 (PGT-M) 植入前遗传检测的认识在患者和医生中很低. 需要增加教育和指导方针,以改善这些遗传性疾病的预孕咨询.
科学领域:
- 生殖遗传学 生殖遗传学
- 在瘤学瘤学.
- 遗传咨询 遗传咨询 遗传咨询
背景情况:
- 癌症倾向综合征 (CPS) 或遗传性癌症综合征 (HCS) 增加了终身癌症风险.
- 对于CPS患者来说,生殖选择对于计划生育至关重要.
- 单一性疾病的植入前遗传检测 (PGT-M) 是一种新兴的生殖技术.
研究的目的:
- 审查有关CPS的PGT-M意识和可接受性的文献.
- 在遗传性癌症背景下确定影响PGT-M采用的因素.
- 突出提高患者和医生教育的必要性.
主要方法:
- 对CPS的PGT-M进行文献综述.
- 对意识和接受度数据的分析.
- 综合影响PGT-M使用的因素.
主要成果:
- 患者和医疗保健提供者对PGT-M适用于CPS的认识有限.
- 对于CPS的PGT-M可接受性受到各种因素的影响.
- 关于遗传性癌症PGT-M的当前知识和实践存在重大差距.
结论:
- 对于患者和医生来说,对CPS的PGT-M进行加强教育是必不可少的.
- 建议为预孕咨询制定专业指南.
- 提高PGT-M的认识和可访问性可以为具有遗传癌症风险的家庭赋予生殖选择权.
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