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学科主题: 临床医学
题名:
Noninvasive prenatal testing of trisomies 21 and 18 by massively parallel sequencing of maternal plasma DNA in twin pregnancies
作者: Huang, Xuan1; Zheng, Jing2; Chen, Min3,4,5; Zhao, Yangyu6; Zhang, Chunlei2; Liu, Lifu2; Xie, Weiwei2; Shi, Shuqiong7; Wei, Yuan6; Lei, Dongzhu8; Xu, Chenming9; Wu, Qichang10; Guo, Xiaoling7; Shi, Xiaomei1; Zhou, Yi1; Liu, Qiufang2,11; Gao, Ya2,11; Jiang, Fuman2,11; Zhang, Hongyun2,11; Su, Fengxia2; Ge, Huijuan2; Li, Xuchao2; Pan, Xiaoyu2,12; Chen, Shengpei2,13; Chen, Fang2,14,15; Fang, Qun1; Jiang, Hui2,14,16,17; Lau, Tze Kin18; Wang, Wei2,11,15,16
刊名: PRENATAL DIAGNOSIS
发表日期: 2014-04-01
DOI: 10.1002/pd.4303
卷: 34, 期:4, 页:335-340
收录类别: SCI
文章类型: Article
WOS标题词: Science & Technology
类目[WOS]: Genetics & Heredity ; Obstetrics & Gynecology
研究领域[WOS]: Genetics & Heredity ; Obstetrics & Gynecology
关键词[WOS]: ASSISTED REPRODUCTIVE TECHNOLOGY ; MULTIPLE BIRTHS ; DOWN-SYNDROME ; CHROMOSOMAL ANEUPLOIDIES ; NUCHAL TRANSLUCENCY ; UNITED-STATES ; DIAGNOSIS ; GESTATIONS ; ZYGOSITY ; TRENDS
英文摘要:

Objective

The objective of this study is to assess the performance of noninvasive prenatal testing for trisomies 21 and 18 on the basis of massively parallel sequencing of cell-free DNA from maternal plasma in twin pregnancies.

Method

A double-blind study was performed over 12 months. A total of 189 pregnant women carrying twins were recruited from seven hospitals. Maternal plasma DNA sequencing was performed to detect trisomies 21 and 18. The fetal karyotype was used as gold standard to estimate the sensitivity and specificity of sequencing-based noninvasive prenatal test.

Results

There were nine cases of trisomy 21 and two cases of trisomy 18 confirmed by karyotyping. Plasma DNA sequencing correctly identified nine cases of trisomy 21 and one case of trisomy 18. The discordant case of trisomy 18 was an unusual case of monozygotic twin with discordant fetal karyotype (one normal and the other trisomy 18). The sensitivity and specificity of maternal plasma DNA sequencing for fetal trisomy 21 were both 100% and for fetal trisomy 18 were 50% and 100%, respectively.

Conclusion

Our study further supported that sequencing-based noninvasive prenatal testing of trisomy 21 in twin pregnancies could be achieved with a high accuracy, which could effectively avoid almost 95% of invasive prenatal diagnosis procedures. (c) 2013 John Wiley & Sons, Ltd.

语种: 英语
项目资助者: Shenzhen Engineering Laboratory for Clinical Molecular Diagnostic ; China National GeneBank-Shenzhen ; Medical Centre for Critical Pregnant Women in Guangzhou and Prenatal monitoring
WOS记录号: WOS:000334443000005
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/62631
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.BGI Shenzhen, Shenzhen, Peoples R China
2.Obstet & Gynecol Inst Guangzhou, Guangzhou, Guangdong, Peoples R China
3.Maternal & Child Healthcare Hosp Foshan, Foshan, Peoples R China
4.Sun Yat Sen Univ, Dept Obstet & Gynecol, Affiliated Hosp 1, Fetal Med Ctr, Guangzhou 510275, Guangdong, Peoples R China
5.Guangzhou Med Univ, Affiliated Hosp 3, Dept Fetal Med & Prenatal Diag, Guangzhou, Guangdong, Peoples R China
6.Key Lab Major Obstet Dis Guangdong Prov, Guangzhou, Guangdong, Peoples R China
7.Peking Univ, Hosp 3, Dept Gynecol & Obstet, Beijing 100871, Peoples R China
8.Peoples Hosp Chenzhou, Chenzhou, Hunan, Peoples R China
9.Zhejiang Univ, Key Lab Reprod Genet, Hangzhou 310003, Zhejiang, Peoples R China
10.Maternal & Child Hlth Care Hosp Xiamen, Xiamen, Fujian, Peoples R China
11.BGI Shenzhen, Clin Lab BGI Hlth, Shenzhen, Peoples R China
12.S China Univ Technol, Sch Biosci & Bioengn, Guangzhou, Guangdong, Peoples R China
13.Southeast Univ, Dept Biomed Engn, Nanjing, Jiangsu, Peoples R China
14.Univ Copenhagen, Dept Biol, Copenhagen, Denmark
15.Shenzhen Key Lab Trans Biotechnol, Shenzhen, Peoples R China
16.Shenzhen Engn Key Lab Birth Defects Screening, Shenzhen, Peoples R China
17.Guangdong Enterprise Key Lab Human Dis Genom, Shenzhen, Guangdong, Peoples R China
18.Paramount Clin, Fetal Med Ctr, Hong Kong, Hong Kong, Peoples R China

Recommended Citation:
Huang, Xuan,Zheng, Jing,Chen, Min,et al. Noninvasive prenatal testing of trisomies 21 and 18 by massively parallel sequencing of maternal plasma DNA in twin pregnancies[J]. PRENATAL DIAGNOSIS,2014,34(4):335-340.
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