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学科主题: 临床医学
题名:
Statistical Approach to Decreasing the Error Rate of Noninvasive Prenatal Aneuploid Detection caused by Maternal Copy Number Variation
作者: 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
发表日期: 2015-11-04
DOI: 10.1038/srep16106
卷: 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
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/52146
Appears in Collections:北京大学第三临床医学院_期刊论文

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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

Recommended Citation:
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.
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