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[基于游离胎儿DNA的无创产前筛查临床应用进展]

[Advance in clinical application of non-invasive prenatal screening using cell-free fetal DNA].

作者信息

Hu Jilin, Zhu Baosheng

机构信息

Medical Faculty of Kunming University of Science and Technology, Kunming, Yunnan 650500, China. Email:

出版信息

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2017 Dec 10;34(6):924-927. doi: 10.3760/cma.j.issn.1003-9406.2017.06.032.

Abstract

Non-invasive prenatal screening using cell-free fetal DNA (NIPS) has been integrated into the prenatal health care only in a short span of five years, and the guidelines provided by professional bodies have been continuously updated. The American College of Medical Genetics and Genomics has made a statement on NIPS in July, 2016, suggesting that the NIPS can replace conventional screening for Patau, Edwards and Down syndromes in a continuum of gestational age and for any maternal age, except those who are significantly obese. The scope of target diseases of NIPS are also growing. Meanwhile, pre- and post-test counseling for NIPS has put forward a greater challenge for medical professionals.

摘要

使用游离胎儿DNA的无创产前筛查(NIPS)在短短五年内就已纳入产前保健,专业机构提供的指南也在不断更新。美国医学遗传学与基因组学学会于2016年7月就NIPS发表声明,表明NIPS可在连续孕周内替代对帕陶氏综合征、爱德华兹综合征和唐氏综合征的传统筛查,适用于任何产妇年龄,但严重肥胖者除外。NIPS的目标疾病范围也在不断扩大。与此同时,NIPS的检测前和检测后咨询对医学专业人员提出了更大的挑战。

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