无创产前筛查时代下有创产前诊断取样技术

张尧; 孙路明

doi:10.19538/j.fk2026020110

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中国实用妇科与产科杂志 ›› 2026, Vol. 42 ›› Issue (2) : 167-170. DOI: 10.19538/j.fk2026020110

专题笔谈

无创产前筛查时代下有创产前诊断取样技术

张尧 ¹ ,
孙路明 ²

作者信息 +

Invasive prenatal diagnosis sampling technology in the era of non-invasive prenatal testing

ZHANG Yao ¹ ,
SUN Lu-ming ²

Author information +

文章历史 +

摘要

随着无创产前筛查（non-invasive prenatal testing，NIPT）的广泛应用，有创产前诊断已从一线筛查策略转变为针对高风险人群的最终确诊手段。对于无创筛查结果高风险、胎儿超声结构异常及特定遗传病史等高危指征，有创产前诊断凭借其诊断的确定性，作为获取胎儿完整遗传信息的“金标准”，其地位无可替代。文章旨在系统梳理有创产前诊断取样技术的最新进展、比较其优势与局限，并探讨未来发展方向，以期为相关临床实践与科学研究提供参考依据。

Abstract

With the widespread application of non-invasive prenatal testing （NIPT），invasive prenatal diagnosis has shifted from being a first-line screening strategy to a final diagnostic tool for high-risk populations. For high-risk indicators such as high-risk results of non-invasive screening，fetal structural abnormalities in ultrasonography and specific genetic history，invasive prenatal diagnosis，with its diagnostic certainty，serves as the "gold standard" for obtaining complete genetic information of the fetus，and its status is irreplaceable. This article aims to systematically review the latest advancements in sampling techniques for invasive prenatal diagnosis，compare their advantages and limitations，and explore future development directions，with the hope of providing a reference basis for relevant clinical practice and scientific research.

导出引用

张尧, 孙路明. 无创产前筛查时代下有创产前诊断取样技术[J]. 中国实用妇科与产科杂志. 2026, 42(2): 167-170 https://doi.org/10.19538/j.fk2026020110

ZHANG Yao, SUN Lu-ming. Invasive prenatal diagnosis sampling technology in the era of non-invasive prenatal testing[J]. Chinese Journal of Practical Gynecology and Obstetrics. 2026, 42(2): 167-170 https://doi.org/10.19538/j.fk2026020110

中图分类号： R714.5

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