IR@PKUHSC  > 北京大学第三临床医学院
学科主题临床医学
Statistical Approach to Decreasing the Error Rate of Noninvasive Prenatal Aneuploid Detection caused by Maternal Copy Number Variation
Zhang, Han1; Zhao, Yang-Yu2; Song, Jing3; Zhu, Qi-Ying4; Yang, Hua5; Zheng, Mei-Ling6; Xuan, Zhao-Ling1; Wei, Yuan2; Chen, Yang1; Yuan, Peng-Bo2; Yu, Yang2; Li, Da-Wei1; Liang, Jun-Bin1; Fan, Ling3; Chen, Chong-Jian1; Qiao, Jie2
刊名SCIENTIFIC REPORTS
2015-11-04
DOI10.1038/srep16106
5
收录类别SCI
文章类型Article
WOS标题词Science & Technology
类目[WOS]Multidisciplinary Sciences
研究领域[WOS]Science & Technology - Other Topics
关键词[WOS]FREE FETAL DNA ; PLASMA ; DIAGNOSIS ; GENOME ; PREGNANCY ; ABNORMALITIES ; TRISOMY-18 ; MOSAICISM ; BLOOD
英文摘要

Analyses of cell-free fetal DNA (cff-DNA) from maternal plasma using massively parallel sequencing enable the noninvasive detection of feto-placental chromosome aneuploidy; this technique has been widely used in clinics worldwide. Noninvasive prenatal tests (NIPT) based on cff-DNA have achieved very high accuracy; however, they suffer from maternal copy-number variations (CNV) that may cause false positives and false negatives. In this study, we developed an algorithm to exclude the effect of maternal CNV and refined the Z-score that is used to determine fetal aneuploidy. The simulation results showed that the algorithm is robust against variations of fetal concentration and maternal CNV size. We also introduced a method based on the discrepancy between feto-placental concentrations to help reduce the false-positive ratio. A total of 6615 pregnant women were enrolled in a prospective study to validate the accuracy of our method. All 106 fetuses with T21, 20 with T18, and three with T13 were tested using our method, with sensitivity of 100% and specificity of 99.97%. In the results, two cases with maternal duplications in chromosome 21, which were falsely predicted as T21 by the previous NIPT method, were correctly classified as normal by our algorithm, which demonstrated the effectiveness of our approach.

语种英语
WOS记录号WOS:000364038700001
引用统计
被引频次:1[WOS]   [WOS记录]     [WOS相关记录]
文献类型期刊论文
条目标识符http://ir.bjmu.edu.cn/handle/400002259/52146
专题北京大学第三临床医学院
北京大学第二临床医学院_麻醉科
北京大学第三临床医学院_生殖医学中心
作者单位1.Annoroad Gene Technol Co Ltd, Beijing, Peoples R China
2.Peking Univ, Hosp 3, Dept Gynecol & Obstet, Beijing 100871, Peoples R China
3.Capital Med Univ, Beijing Obster & Gynecol Hosp, Dept Obstet, Beijing, Peoples R China
4.Xinjiang Med Univ, Affiliated Hosp 1, Dept Obstet, Urumqi, Peoples R China
5.Capital Med Univ, Beijing Friendship Hosp, Dept Obstet & Gynecol, Beijing, Peoples R China
6.Shanxi Med Univ, Hosp 1, Dept Obstet & Gynecol, Shanxi, Peoples R China
推荐引用方式
GB/T 7714
Zhang, Han,Zhao, Yang-Yu,Song, Jing,et al. Statistical Approach to Decreasing the Error Rate of Noninvasive Prenatal Aneuploid Detection caused by Maternal Copy Number Variation[J]. SCIENTIFIC REPORTS,2015,5.
APA Zhang, Han.,Zhao, Yang-Yu.,Song, Jing.,Zhu, Qi-Ying.,Yang, Hua.,...&Qiao, Jie.(2015).Statistical Approach to Decreasing the Error Rate of Noninvasive Prenatal Aneuploid Detection caused by Maternal Copy Number Variation.SCIENTIFIC REPORTS,5.
MLA Zhang, Han,et al."Statistical Approach to Decreasing the Error Rate of Noninvasive Prenatal Aneuploid Detection caused by Maternal Copy Number Variation".SCIENTIFIC REPORTS 5(2015).
条目包含的文件
条目无相关文件。
个性服务
推荐该条目
保存到收藏夹
查看访问统计
导出为Endnote文件
谷歌学术
谷歌学术中相似的文章
[Zhang, Han]的文章
[Zhao, Yang-Yu]的文章
[Song, Jing]的文章
百度学术
百度学术中相似的文章
[Zhang, Han]的文章
[Zhao, Yang-Yu]的文章
[Song, Jing]的文章
必应学术
必应学术中相似的文章
[Zhang, Han]的文章
[Zhao, Yang-Yu]的文章
[Song, Jing]的文章
相关权益政策
暂无数据
收藏/分享
所有评论 (0)
暂无评论
 

除非特别说明,本系统中所有内容都受版权保护,并保留所有权利。