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通过扩展载体查识别的胎儿遗传疾病风险
Imran S Haque1, Gabriel A Lazarin1, H Peter Kang1
1Departments of Medical Affairs and Research, Counsyl, South San Francisco, California.
JAMA
|August 18, 2016
概括
扩展的载体查发现了比目前的产前护理指南更容易患有严重遗传疾病的胎儿. 这种方法可以在不同的群体中提供更广泛的载体状态检测.
科学领域:
- 生殖遗传学
- 产前诊断
- 人口查
背景情况:
- 目前的产前护理对有限数量的单基因疾病进行查.
- 扩展载体选 (ECS) 面板现在可以对许多条件进行测试.
- 需要评估ECS在不同种族和民族群体中的有效性.
研究的目的:
- 通过ECS检测出衰退性遗传疾病的风险.
- 将ECS风险与当前查建议进行比较.
- 分析不同种族背景的风险.
主要方法:
- 对346,790名个人 (2012-2015) 的ECS结果进行了回顾性分析.
- 对严重/严重疾病的假设胎儿风险的建模.
- 基于指导方针的查小组与ECS的比较
主要成果:
- 与基于指南的查相比,ECS在大多数种族/种族群体中建模了更高的风险胎儿频率.
- 计算的胎儿风险频率因种族而异,例如,阿什基纳兹犹太夫妇的392.2/100,000.
- 与ECS相比,基于指南的查发现了较低的风险胎儿百分比,因种族而异.
结论:
- 与目前的产前建议相比,扩大载体查可能会提高严重遗传疾病的检测.
- 在不同的人群中,ECS显示出更广泛的载体身份识别潜力.
- 需要进一步的前性研究来验证ECS在临床实践中的采用.
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