Isolation and whole genome sequencing of fetal cells from maternal blood towards the ultimate non-invasive prenatal testing

被引：33

作者：

Chen, Fang ^{[1
,5
,6
,7
]}

Liu, Ping ^{[1
,5
,6
]}

Gu, Ying ^{[1
,6
]}

Zhu, Zhu ^{[1
,5
,6
]}

Nanisetti, Amulya ^{[1
,2
]}

Lan, Zhangzhang ^{[1
,6
]}

Huang, Zhiwei ^{[1
,6
]}

Liu, Jia Sophie ^{[1
,2
]}

Kang, Xiongbin ^{[1
,6
]}

Deng, Yuqing ^{[3
]}

Luo, Liqiong ^{[4
]}

Jiang, Dan ^{[1
,6
]}

Qiu, Yong ^{[1
,5
,6
]}

Pan, Jianchang ^{[1
,6
]}

Xia, Jun ^{[1
,5
,6
]}

Xiong, Ken ^{[1
,2
]}

Liu, Chao ^{[1
,6
]}

Xie, Lin ^{[1
,5
,6
]}

Shi, Qianyu ^{[1
,5
,6
]}

Li, Jing ^{[1
,6
]}

Zhang, Xiuqing ^{[1
,6
]}

Wang, Wei ^{[1
,6
]}

Drmanac, Snezana ^{[1
,2
]}

Bolund, Lars ^{[7
,8
]}

Jiang, Hui ^{[1
,5
,6
]}

Drmanac, Radoje ^{[1
,2
]}

Xu, Xun ^{[1
,6
]}

机构：

[1] BGI Shenzhen, Shenzhen 518083, Peoples R China

[2] Complete Genom Inc, 2904 Orchard Pkwy, San Jose, CA 95134 USA

[3] PEKING Univ, Shenzhen Hosp, Shenzhen, Peoples R China

[4] Southern Med Univ, Shenzhen Longhua New Dist Peoples Hosp, Affiliated Hosp, Guangzhou, Guangdong, Peoples R China

[5] BGI Shenzhen, MGI, Shenzhen 518083, Peoples R China

[6] BGI Shenzhen, China Natl GeneBank, Shenzhen 518120, Peoples R China

[7] Univ Copenhagen, Dept Biol, Lab Genom & Mol Biomed, DK-2100 Copenhagen, Denmark

[8] Aarhus Univ, Dept Biomed, Aarhus, Denmark

来源：

PRENATAL DIAGNOSIS | 2017年 / 37卷 / 13期

关键词：

ANEUPLOIDY DETECTION; NUCLEATED CELLS; DNA; AMPLIFICATION; DIAGNOSIS; PLASMA; CIRCULATION; TRISOMY-21; INNOVATION; FRAMEWORK;

D O I：

10.1002/pd.5186

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

ObjectiveThe purpose of this study were to develop a methodology of isolating fetal cells from maternal blood and use deep sequence demonstrating the promise for complete and accurate genetic screening compared to other non-invasive prenatal testing. MethodsHere in this study, we developed a double negative selection (DNS) procedure to unbiasedly enrich fetal cells. After validated by short tandem repeat (STR), the isolated circulating fetal cells (CFCs) were subjected to deep whole genome sequencing analysis. ResultsOur DNS protocol significantly increasing the purity of the mimic fetal cells from 1 in 1 million nucleated cells in whole blood to 1:8 to 1:30 (12.5%-3.33%) after 2 steps of enrichment. Isolated single fetal cell obtained a coverage rate (86.8%) and allelic dropout rate (24.90%) comparative to the reported results of human cell line. Several disease-associated variants were identified in the whole genome sequencing data of isolated CFCs and further confirmed in the sequencing data of unamplified gDNA. ConclusionIn conclusion, the robustness of DNS and STR to collect CFCs from peripheral maternal blood for the first time coupled with deep sequencing technique demonstrates the possibility of comprehensive non-invasive prenatal testing of genetic disorders using isolated CFCs.

引用

页码：1311 / 1321

页数：11

共 42 条

[1] Genome-Wide Fetal Aneuploidy Detection by Maternal Plasma DNA Sequencing [J].

Bianchi, Diana W. ;

Platt, Lawrence D. ;

Goldberg, James D. ;

Abuhamad, Alfred Z. ;

Sehnert, Amy J. ;

Rava, Richard P. .

OBSTETRICS AND GYNECOLOGY, 2012, 119 (05) :890-901

[2] Male fetal progenitor cells persist in maternal blood for as long as 27 years postpartum [J].

Bianchi, DW ;

Zickwolf, GK ;

Weil, GJ ;

Sylvester, S ;

DeMaria, MA .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1996, 93 (02) :705-708

[3] Fetal gender and aneuploidy detection using fetal cells in maternal blood: analysis of NIFTY I data [J].

Bianchi, DW ;

Simpson, JL ;

Jackson, LG ;

Elias, S ;

Holzgreve, W ;

Evans, MI ;

Dukes, KA ;

Sullivan, LM ;

Klinger, KW ;

Bischoff, FZ ;

Hahn, S ;

Johnson, KL ;

Lewis, D ;

Wapner, RJ .

PRENATAL DIAGNOSIS, 2002, 22 (07) :609-615

[4] Evidence for feasibility of fetal trophoblastic cell-based noninvasive prenatal testing [J].

Breman, Amy M. ;

Chow, Jennifer C. ;

U'Ren, Lance ;

Normand, Elizabeth A. ;

Qdaisat, Sadeem ;

Zhao, Li ;

Henke, David M. ;

Chen, Rui ;

Shaw, Chad A. ;

Jackson, Laird ;

Yang, Yaping ;

Vossaert, Liesbeth ;

Needham, Rachel H. V. ;

Chang, Elizabeth J. ;

Campton, Daniel ;

Werbin, Jeffrey L. ;

Seubert, Ron C. ;

Van den Veyver, Ignatia B. ;

Stilwell, Jackie L. ;

Kaldjian, Eric P. ;

Beaudet, Arthur L. .

PRENATAL DIAGNOSIS, 2016, 36 (11) :1009-1019

[5] Whole genome amplification using a degenerate oligonucleotide primer allows hundreds of genotypes to be performed on less than one nanogram of genomic DNA [J].

Cheung, VG ;

Nelson, SF .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1996, 93 (25) :14676-14679

[6] Non-invasive prenatal assessment of trisomy 21 by multiplexed maternal plasma DNA sequencing: large scale validity study [J].

Chiu, Rossa W. K. ;

Akolekar, Ranjit ;

Zheng, Yama W. L. ;

Leung, Tak Y. ;

Sun, Hao ;

Chan, K. C. Allen ;

Lun, Fiona M. F. ;

Go, Attie T. J. I. ;

Lau, Elizabeth T. ;

To, William W. K. ;

Leung, Wing C. ;

Tang, Rebecca Y. K. ;

Au-Yeung, Sidney K. C. ;

Lam, Helena ;

Kung, Yu Y. ;

Zhang, Xiuqing ;

van Vugt, John M. G. ;

Minekawa, Ryoko ;

Tang, Mary H. Y. ;

Wang, Jun ;

Oudejans, Cees B. M. ;

Lau, Tze K. ;

Nicolaides, Kypros H. ;

Lo, Y. M. Dennis .

BMJ-BRITISH MEDICAL JOURNAL, 2011, 342 :217

[7] The promise of fetal cells in maternal blood [J].

Choolani, Mahesh ;

Mahyuddin, Aniza P. ;

Hahn, Sinuhe .

BEST PRACTICE & RESEARCH CLINICAL OBSTETRICS & GYNAECOLOGY, 2012, 26 (05) :655-667

[8] 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 [J].

Dan, Shan ;

Wang, Wei ;

Ren, Jinghui ;

Li, Yali ;

Hu, Hua ;

Xu, Zhengfeng ;

Lau, Tze Kin ;

Xie, Jianhong ;

Zhao, Weihua ;

Huang, Hefeng ;

Xie, Jiansheng ;

Sun, Luming ;

Zhang, Xiaohong ;

Wang, Weipeng ;

Liao, Shixiu ;

Qiang, Rong ;

Cao, Jiangxia ;

Zhang, Qiufang ;

Zhou, Yulin ;

Zhu, Haiyan ;

Zhong, Mei ;

Guo, Yi ;

Lin, Linhua ;

Gao, Zhiying ;

Yao, Hong ;

Zhang, Hongyun ;

Zhao, Lijian ;

Jiang, Fuman ;

Chen, Fang ;

Jiang, Hui ;

Li, Songgang ;

Li, Yingrui ;

Wang, Jun ;

Wang, Jian ;

Duan, Tao ;

Su, Yue ;

Zhang, Xiuqing .

PRENATAL DIAGNOSIS, 2012, 32 (13) :1225-1232

[9] Comprehensive human genome amplification using multiple displacement amplification [J].

Dean, FB ;

Hosono, S ;

Fang, LH ;

Wu, XH ;

Faruqi, AF ;

Bray-Ward, P ;

Sun, ZY ;

Zong, QL ;

Du, YF ;

Du, J ;

Driscoll, M ;

Song, WM ;

Kingsmore, SF ;

Egholm, M ;

Lasken, RS .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2002, 99 (08) :5261-5266

[10] Rapid amplification of plasmid and phage DNA using phi29 DNA polymerase and multiply-primed rolling circle amplification [J].

Dean, FB ;

Nelson, JR ;

Giesler, TL ;

Lasken, RS .

GENOME RESEARCH, 2001, 11 (06) :1095-1099

← 1 2 3 4 5 →