Abstract:

With the implementation of second generation sequencing in prenatal screening，guidelines and consensuses were published and updated by many academic committees in the world.National Health and Family Planning Commission of the People’s Republic of China launched national regulation and consensus of fetal cell free DNA in prenatal screening and diagnosis，based on the international and domestic clinical trials，and the expertise.The regulation and consensus included requirements，indication，clinical procedure，testing procedure and quality control of cell free DNA in prenatal screening，thus made the cornerstone of the techinique in clinical practice in China.

Key words: non-invasive prenatal testing, guideline, standard

摘要：

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。

关键词: 无创产前检测, 指南, 规范