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随着二代测序技术在产前筛查临床应用的开展,国际上一些有影响力的学术组织相继发表和不断更新了关于该技术的应用指南和共识。国家卫生计生委组织专家总结我国的无创产前检测(NIPT)试点工作经验,结合国际国内的临床研究成果制定了我国《孕妇外周血胎儿游离DNA产前筛查与诊断技术规范》。该技术规范主要包括开展孕妇外周血胎儿游离DNA产前筛查与诊断技术的基本要求、适用范围、临床服务流程、检测技术流程以及质量控制指标等内容。为规范、有序地在我国开展该技术进行产前筛查和产前诊断提供了依据。
With the development of second-generation sequencing technology in clinical application of prenatal screening, some influential academic organizations in the world have successively published and updated the application guidelines and consensus on this technology. The National Health and Family Planning Commission has organized experts to summarize the pilot work of non-invasive prenatal testing (NIPT) in China and formulated the “prenatal screening and diagnostic techniques for fetal DNA in pregnant women” based on the results of international and domestic clinical research. The technical specifications include the basic requirements, scope of application, clinical service process, testing technology processes and quality control indicators of fetal prenatal screening and diagnosis of fetal DNA in pregnant women. It provides a basis for standardizing and prenatal screening and prenatal diagnosis in our country.