Clinical application of massively parallel sequencing-based prenatal noninvasive fetal trisomy test for trisomies 21 and 18 in 11 105 pregnancies with mixed risk factors

被引：261

作者：

Dan, Shan ^{[2
,3
]}

Wang, Wei ^{[2
]}

Ren, Jinghui ^{[4
]}

Li, Yali ^{[5
]}

Hu, Hua ^{[6
]}

Xu, Zhengfeng ^{[7
]}

Lau, Tze Kin ^{[8
]}

Xie, Jianhong ^{[9
]}

Zhao, Weihua ^{[10
]}

Huang, Hefeng ^{[11
,12
]}

Xie, Jiansheng ^{[13
]}

Sun, Luming ^{[1
]}

Zhang, Xiaohong ^{[14
]}

Wang, Weipeng ^{[15
]}

Liao, Shixiu ^{[16
]}

Qiang, Rong ^{[17
]}

Cao, Jiangxia ^{[18
]}

Zhang, Qiufang ^{[19
]}

Zhou, Yulin ^{[20
]}

Zhu, Haiyan ^{[21
]}

Zhong, Mei ^{[22
]}

Guo, Yi ^{[23
]}

Lin, Linhua ^{[4
]}

Gao, Zhiying ^{[5
]}

Yao, Hong ^{[6
]}

Zhang, Hongyun ^{[2
]}

Zhao, Lijian ^{[2
]}

Jiang, Fuman ^{[2
]}

Chen, Fang ^{[2
]}

Jiang, Hui ^{[2
]}

Li, Songgang ^{[2
]}

Li, Yingrui ^{[2
]}

Wang, Jun ^{[2
]}

Wang, Jian ^{[2
]}

Duan, Tao ^{[1
]}

Su, Yue ^{[3
]}

Zhang, Xiuqing ^{[2
]}

机构：

[1] Tongji Univ, Shanghai Matern & Infant Hosp 1, Dept Obstet, Shanghai 200092, Peoples R China

[2] BGI Shenzhen, Shenzhen, Peoples R China

[3] Capital Univ Med Sci, Beijing Obstet & Gynecol Hosp, Dept Perinatol, Beijing, Peoples R China

[4] Jinan Univ, Clin Med Coll 2, Shenzhen Peoples Hosp, Ctr Prenatal Diag, Shenzhen, Peoples R China

[5] Chinese Peoples Liberat Army Gen Hosp, Dept Obstet & Gynecol, Beijing, Peoples R China

[6] Third Mil Med Univ, Southwest Hosp, Chongqing, Peoples R China

[7] Nanjing Med Univ, Nanjing Maternal & Child Hlth Hosp, Ctr Prenatal Diag, Nanjing, Peoples R China

[8] Paramount Clin, Fetal Med Ctr, Hong Kong, Hong Kong, Peoples R China

[9] Zhuhai Municipal Maternal & Child Healthcare Hosp, Zhuhai Inst Med Genet, Zhuhai, Peoples R China

[10] Shenzhen Univ, Affiliated Hosp 1, Peoples Hosp Shenzhen 2, Dept Obstet, Shenzhen, Peoples R China

[11] Zhejiang Univ, Minist Educ, Key Lab Reprod Genet, Hangzhou 310003, Zhejiang, Peoples R China

[12] Zhejiang Univ, Sch Med, Womens Hosp, Dept Reprod Endocrinol, Hangzhou 310003, Zhejiang, Peoples R China

[13] Affiliated So Med Univ, Shenzhen Matern & Child Healthcare Hosp, Shenzhen, Peoples R China

[14] Peking Univ, Peoples Hosp, Dept Obstet & Gynecol, Beijing 100871, Peoples R China

[15] Hubei Maternal & Child Hlth Hosp, Dept Clin Lab, Wuhan, Peoples R China

[16] Zhengzhou Univ, Peoples Hosp, Henan Prov Peoples Hosp, Med Genet Ctr, Zhengzhou, Peoples R China

[17] Maternal & Child Hlth Hosp Shanxi Prov, Prenatal Diag Ctr, Xian, Peoples R China

[18] Wuhan Med Care Ctr Women & Children, Dept Obstet & Gynecol, Wuhan, Peoples R China

[19] Peking Univ, Hosp 3, Dept Perinatal Med, Beijing 100871, Peoples R China

[20] Xiamen Maternal & Child Hlth Care Hosp, Xiamen Prenatal Diag Ctr, Xiamen, Peoples R China

[21] Nanjing Univ, Sch Med, Nanjing Drum Tower Hosp, Prenatal Diag Ctr,Dept Obstet & Gynecol, Nanjing 210008, Peoples R China

[22] First Mil Med Univ, Nanfang Hosp, Dept Gynecol & Obstet, Guangzhou, Guangdong, Peoples R China

[23] Dalian Obstet & Gynecol Hosp, Dept Perinatal Med, Dalian, Peoples R China

来源：

PRENATAL DIAGNOSIS | 2012年 / 32卷 / 13期

关键词：

MATERNAL PLASMA; CHROMOSOMAL-ABNORMALITIES; ANEUPLOIDY DETECTION; DOWN-SYNDROME; DNA; DIAGNOSIS; POPULATION;

D O I：

10.1002/pd.4002

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Objective To report the performance of massively parallel sequencing (MPS) based prenatal noninvasive fetal trisomy test based on cell-free DNA sequencing from maternal plasma in a routine clinical setting in China. Method The MPS-based test was offered as a prenatal screening test for trisomies 21 and 18 to pregnant women in 49 medical centers over 2?years. A total of 11?263 participants were recruited and the MPS-based test was performed in 11?105 pregnancies. Fetal outcome data were obtained after the expected date of confinement. Results One hundred ninety cases were classified as positive, including 143 cases of trisomy 21 and 47 cases of trisomy 18. With the karyotyping results and the feedback of fetal outcome data, we observed one false positive case of trisomy 21, one false positive case of trisomy 18 and no false negative cases, indicating 100% sensitivity and 99.96% specificity for the detection of trisomies 21 and 18. Conclusion Our large-scale multicenter study proved that the MPS-based test is of high sensitivity and specificity in detecting fetal trisomies 21 and 18. The introduction of this screening test into a routine clinical setting could avoid about 98% of invasive prenatal diagnostic procedures. (c) 2012 John Wiley & Sons, Ltd.

引用

页码：1225 / 1232

页数：8

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