Non-invasive prenatal DNA testing for genomic copy number variations

被引：0

作者：

Ke, Weilin ^{[1
]}

Li, Qing ^{[2
]}

Jie, Shenqiu ^{[1
]}

Chen, Qingqing ^{[2
]}

Zhao, Weihua ^{[1
]}

机构：

[1] Shenzhen Second Peoples Hosp, Dept Obstet, Shenzhen 518035, Peoples R China

[2] Guangzhou Med Univ, Affiliated Hosp 3, Guangzhou 510150, Guangdong, Peoples R China

来源：

INTERNATIONAL JOURNAL OF CLINICAL AND EXPERIMENTAL MEDICINE | 2017年 / 10卷 / 03期

关键词：

Non-invasive prenatal testing; copy number variation; prenatal screening; chromosome from amniotic fluid; chromosome microarray analysis; MATERNAL PLASMA; ARRAY-CGH; DIAGNOSIS; MOSAICISM;

D O I：

暂无

中图分类号：

R-3 [医学研究方法]; R3 [基础医学];

学科分类号：

1001 ;

摘要：

Objective: To investigate the clinical significance of non-invasive prenatal testing (NIPT) of genomic copy number variation (CNV) for screening chromosomal micro-deletion/micro-duplication syndromes. Methods: 14235 pregnant women were enrolled in the NIPT. The NIPT detection results revealed the presence of genomic CNV in pregnant women who were informed of the detection results and performed confirmatory amniocentesis after they had provided informed content. The CNV results were further confirmed by the G-band karyotyping and Chromosomal Microarray Analysis (CMA), followed by routine follow-ups to all the cases undergone the NIPT. Results: Among the total 14235 NIPT-detected samples, 24 cases were detected in the presence of CNVs, 15 cases (4 cases with micro-deletion and 11 cases with micro-duplication) were required to undergo further prenatal diagnosis, in which 13 cases were concordant with the CMA findings, with a positive concordant rate of 86.7%. Only 7 of 13 cases were positive for chromosomal karyotyping, with a missed diagnosis rate of 46.2%. Besides, one case was confirmed with partial inversion of chromosome 9 by the G-band karyotyping. Conclusion: The high accuracy of positive CNV results by NIPT screening indicates complementary function of the NIPT.

引用

页码：5152 / 5159

页数：8

共 20 条

[1] Whole-genome array-CGH identifies novel contiguous gene deletions and duplications associated with developmental delay, mental retardation, and dysmorphic features [J].

Aradhya, Swaroop ;

Manning, Melanie A. ;

Splendore, Alessandra ;

Cherry, Athena M. .

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2007, 143A (13) :1431-1441

[2] Confined placental mosaicism in term placentae: Analysis of 125 cases [J].

Artan, S ;

Basaran, N ;

Hassa, H ;

Ozalp, S ;

Sener, T ;

Sayli, BS ;

Cengiz, C ;

Ozdemir, M ;

Durak, T ;

Dolen, I ;

Ozgunen, T ;

Tuna, M .

PRENATAL DIAGNOSIS, 1995, 15 (12) :1135-1142

[3] Prenatal diagnosis and molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome derived from ring chromosome 2 [J].

Chen, Chih-Ping ;

Chen, Ming ;

Chern, Schu-Rern ;

Wu, Peih-Shan ;

Chang, Shun-Ping ;

Lee, Dong-Jay ;

Chen, Yu-Ting ;

Chen, Li-Feng ;

Su, Jun-Wei ;

Hsieh, Alan Hwa-Ruey ;

Hsieh, Alex Hwa-Jiun ;

Wang, Wayseen .

TAIWANESE JOURNAL OF OBSTETRICS & GYNECOLOGY, 2012, 51 (03) :411-417

[4] A method for noninvasive detection of fetal large deletions/duplications by low coverage massively parallel sequencing [J].

Chen, Shengpei ;

Lau, Tze Kin ;

Zhang, Chunlei ;

Xu, Chenming ;

Xu, Zhengfeng ;

Hu, Ping ;

Xu, Jian ;

Huang, Hefeng ;

Pan, Ling ;

Jiang, Fuman ;

Chen, Fang ;

Pan, Xiaoyu ;

Xie, Weiwei ;

Liu, Ping ;

Li, Xuchao ;

Zhang, Lei ;

Li, Songgang ;

Li, Yingrui ;

Xu, Xun ;

Wang, Wei ;

Wang, Jun ;

Jiang, Hui ;

Zhang, Xiuqing .

PRENATAL DIAGNOSIS, 2013, 33 (06) :584-590

[5] Development and validation of a CGH microarray for clinical cytogenetic diagnosis [J].

Cheung, SW ;

Shaw, CA ;

Yu, W ;

Li, JZ ;

Ou, ZS ;

Patel, A ;

Yatsenko, SA ;

Cooper, ML ;

Furman, P ;

Stankiewicz, P ;

Lupski, JR ;

Chinault, AC ;

Beaudet, AL .

GENETICS IN MEDICINE, 2005, 7 (06) :422-432

[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] Variation in genome-wide mutation rates within and between human families [J].

Conrad, Donald F. ;

Keebler, Jonathan E. M. ;

DePristo, Mark A. ;

Lindsay, Sarah J. ;

Zhang, Yujun ;

Casals, Ferran ;

Idaghdour, Youssef ;

Hartl, Chris L. ;

Torroja, Carlos ;

Garimella, Kiran V. ;

Zilversmit, Martine ;

Cartwright, Reed ;

Rouleau, Guy A. ;

Daly, Mark ;

Stone, Eric A. ;

Hurles, Matthew E. ;

Awadalla, Philip .

NATURE GENETICS, 2011, 43 (07) :712-U137

[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]

Fu Wenting, 2014, Zhonghua Yi Xue Yi Chuan Xue Za Zhi, V31, P737, DOI 10.3760/cma.j.issn.1003-9406.2014.06.012

[10] The modified Palmer lateral approach for calcaneal fractures: Wound healing and postoperative computed tomographic evaluation of fracture reduction [J].

Gupta, A ;

Ghalambor, N ;

Nihal, A ;

Trepman, E .

FOOT & ANKLE INTERNATIONAL, 2003, 24 (10) :744-753

← 1 2 →