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胎儿游离DNA无创产前筛查的临床应用进展

Jilin Hu,Baosheng Zhu

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics（2017）

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Abstract
胎儿游离DNA无创产前筛查(non-invasive prenatal screening,NIPS)技术进入临床应用仅短短5年就迅速地融入到产前保健工作中.在此期间各专业学会的指导意见也在不断更新.美国医学遗传学与基因组学学会(ACMG)在2016年7月的立场声明指出,对于所有年龄段的孕妇,在孕10周之后且无明显肥胖的孕妇中,NIPS可以替代用于检测13、18、21三体综合征的传统筛查方法.同时,NIPS的适用人群和筛查目标疾病的范围也在不断扩大,对于筛查前后的专业遗传咨询服务提出了更高的要求.
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Key words
Cell-free fetal DNA,Non-invasive prenatal screening,American College of Medical Genetics and Genomics
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