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通过扩展载体查在孕前或早期怀孕期间偶然识别可能受影响的个体
Yan Lü1, Jiazhen Chang1, Yulin Jiang1
1Department of Obstetrics and Gynecology, National Clinical Research Center for Obstetric and Gynecologic Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Science and Peking Union Medical College, Beijing, China.
Prenatal diagnosis
|July 18, 2025
概括
扩展载体查 (ECS) 可以识别携带可能影响自身健康的遗传变异的健康个体. 这一发现强调了对那些接受ECS的患者进行临床评估和监测的需要.
科学领域:
- 遗传学 遗传学是一种遗传学.
- 生殖医学 生殖医学
- 临床诊断 临床诊断 临床诊断
背景情况:
- 扩展载体查 (ECS) 评估遗传疾病的生殖风险.
- 接受ECS的个体可能携带影响其个人健康的变异.
- 目前的咨询可能无法完全解决被查的个体面临的风险.
研究的目的:
- 调查通过ECS识别的潜在受影响个体的发病率.
- 改进遗传咨询实践,以扩大载体查.
主要方法:
- 在3001名接受ECS治疗的人群中进行了回顾性队列研究.
- 鉴定具有双基致病变体的个人对自体逆向性疾病.
- 鉴定X相关疾病的异合致病原体变异的雌性.
主要成果:
- 确定了13名可能受影响的个人 (0.43%).
- 5人患有自体衰退性疾病变异;8人患有X相关疾病变异.
- 85%的确诊个体在评估时无症状.
结论:
- 通过ECS,可以识别患有遗传疾病风险的个体.
- 建议对可能受影响的个体进行临床评估和监测.
- 对于ECS的咨询应包括有关个人健康风险的信息.
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