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Updated: Jun 28, 2025

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产前查和诊断:是时候改变范式了
Yinka Oyelese1,2,3, Davia Schioppo1, Barbara O'Brien1,2,3
1Division of Maternal-Fetal Medicine, Department of Obstetrics and Gynecology, Beth Israel Deaconess Medical Center, Boston, Massachusetts.
American journal of perinatology
|April 24, 2024
概括
建议使用无细胞DNA进行非侵入性产前检测作为唐氏综合征的主要查方法,取代基于年龄的风险评估. 在侵入性测试期间,染色体微阵列分析也应该得到更广泛的应用.
科学领域:
- 在产前查和诊断.
- 在产科中遗传学和成像学.
背景情况:
- 已建立的产前查实践严重依赖唐氏综合征的检测和母亲的年龄.
- 基因检测和成像技术的进步需要对目前的产前查方案进行重新评估.
研究的目的:
- 倡导产前查和诊断的范式转变.
- 将最近在遗传和成像技术方面的进展纳入临床实践.
主要方法:
- 审查产前查和诊断当前的做法.
- 强调使用无细胞DNA进行非侵入性产前检测 (NIPT).
- 建议增加使用染色体微阵列分析 (CMA).
主要成果:
- 使用无细胞DNA进行的非侵入性产前检测可以实现99%以上的唐氏综合征检测.
- 通过CMA,即使在低风险的怀孕中,CMA也可以识别型错过的染色体异常.
- 超声波"软标记"与正常无细胞DNA查结果缺乏意义.
结论:
- 使用无细胞DNA的非侵入性产前检测应该是所有孕妇唐氏综合征的第一线查.
- 染色体微阵列分析应常规提供与侵入性测试.
- 如果查结果是阴性,仅仅年龄 (例如,超过35岁) 不应该再定义染色体异常的高风险怀孕.
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