Noninvasive prenatal screening with conventional sequencing depth to screen fetal copy number variants: A retrospective study of 19 144 pregnant women

被引:1
作者
Wang, Zhiwei [1 ]
Tang, Xinxin [1 ]
Yang, Shuting [1 ]
Zhao, Yali [1 ]
Yin, Ting [1 ]
Chen, Min [1 ]
Zhang, Yue [1 ]
Wang, Yongan [1 ]
Zhang, Fang [1 ]
Wang, Leilei [1 ,2 ]
机构
[1] Lianyungang Maternal & Child Hlth Hosp, Ctr Prenatal Diag, Lianyungang, Jiangsu, Peoples R China
[2] Lianyungang Maternal & Child Hlth Hosp, Ctr Prenatal Diag, Lianyungang 222000, Jiangsu, Peoples R China
关键词
chromosome copy number variations; noninvasive prenatal screening; positive predictive value; CHROMOSOMAL ANEUPLOIDY; CURRENT CONTROVERSIES; DIAGNOSIS; MICROARRAY; DNA; MICRODELETION; ABNORMALITIES; VALIDATION; GENETICS; TRISOMY;
D O I
10.1111/jog.15805
中图分类号
R71 [妇产科学];
学科分类号
100211 ;
摘要
Aim: To investigate the detectability of noninvasive prenatal screening (NIPS) with conventional sequencing depth to detect fetal copy number variants.Methods: We performed a retrospective study in a total of 19 144 pregnant women. Their cell-free plasma DNA were assessed for trisomy 21, trisomy 18, trisomy 13, sex chromosome aneuploidies, and genome-wide copy number variants by NIPS at conventional sequencing depth.Results: Three hundred seventy-four cases (2.0%, 374/19 144) with abnormal results were detected, which including 84 cases (0.4%, 84/19 144) with high risk of trisomy 21, 18, and 13, 90 cases (0.5%, 90/19 144) with high risk of sex chromosome abnormalities (SCA), and 44 cases (0.2%, 44/19 144) with high risk of other chromosome aneuploidies. One hundred fifty-six cases (0.8%, 156/19 144) with high risk of copy number variations (CNVs) were also detected. In following prenatal diagnosis, composite positive predictive value (PPV) of trisomy 21, 18, and 13 was 69.6% (48/69). The PPV of SCAs was 37.3% (19/51). And the PPVs for CNVs was detected as 51.0% (<5 Mb), 71.4% (5 Mb <= CNV <= 10 Mb), 56.5% (>10 Mb). Finally, a follow-up about the pregnancy outcomes were conducted for all available cases.Conclusions: NIPS yielded high PPVs for trisomy 21, 18, and 13 aneuploidies and moderate PPVs for SCAs and CNVs. The screening effectiveness was closely related to the size of CNV fragments. Larger CNVs, especially larger than 5 Mb, could be detected more accurately by NIPS in our analytic technique. Meanwhile, diagnostic confirmation by microarray analysis was highly recommended.
引用
收藏
页码:2825 / 2835
页数:11
相关论文
共 34 条
  • [1] Genome-wide non-invasive prenatal screening for all cytogenetically visible imbalances
    Benn, P.
    Grati, F. R.
    [J]. ULTRASOUND IN OBSTETRICS & GYNECOLOGY, 2018, 51 (04) : 429 - 433
  • [2] The clinical utility of microarray technologies applied to prenatal cytogenetics in the presence of a normal conventional karyotype: a review of the literature
    Callaway, Jonathan L. A.
    Shaffer, Lisa G.
    Chitty, Lyn S.
    Rosenfeld, Jill A.
    Crolla, John A.
    [J]. PRENATAL DIAGNOSIS, 2013, 33 (12) : 1119 - 1123
  • [3] Noninvasive Prenatal Diagnosis of Fetal Trisomy 18 and Trisomy 13 by Maternal Plasma DNA Sequencing
    Chen, Eric Z.
    Chiu, Rossa W. K.
    Sun, Hao
    Akolekar, Ranjit
    Chan, K. C. Allen
    Leung, Tak Y.
    Jiang, Peiyong
    Zheng, Yama W. L.
    Lun, Fiona M. F.
    Chan, Lisa Y. S.
    Jin, Yongjie
    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
    [J]. PLOS ONE, 2011, 6 (07):
  • [4] A method for noninvasive detection of fetal large deletions/duplications by low coverage massively parallel sequencing
    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
    [J]. PRENATAL DIAGNOSIS, 2013, 33 (06) : 584 - 590
  • [5] Development and validation of a CGH microarray for clinical cytogenetic diagnosis
    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
    [J]. GENETICS IN MEDICINE, 2005, 7 (06) : 422 - 432
  • [6] Noninvasive prenatal diagnosis of fetal chromosomal aneuploidy by massively parallel genomic sequencing of DNA in maternal plasma
    Chiu, Rossa W. K.
    Chan, K. C. Allen
    Gao, Yuan
    Lau, Virginia Y. M.
    Zheng, Wenli
    Leung, Tak Y.
    Foo, Chris H. F.
    Xie, Bin
    Tsui, Nancy B. Y.
    Lun, Fiona M. F.
    Zee, Benny C. Y.
    Lau, Tze K.
    Cantor, Charles R.
    Lo, Y. M. Dennis
    [J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2008, 105 (51) : 20458 - 20463
  • [7] Dondorp W, 2015, EUR J HUM GENET, V23, P1438, DOI 10.1038/ejhg.2015.57
  • [8] Human Genome Sequencing Using Unchained Base Reads on Self-Assembling DNA Nanoarrays
    Drmanac, Radoje
    Sparks, Andrew B.
    Callow, Matthew J.
    Halpern, Aaron L.
    Burns, Norman L.
    Kermani, Bahram G.
    Carnevali, Paolo
    Nazarenko, Igor
    Nilsen, Geoffrey B.
    Yeung, George
    Dahl, Fredrik
    Fernandez, Andres
    Staker, Bryan
    Pant, Krishna P.
    Baccash, Jonathan
    Borcherding, Adam P.
    Brownley, Anushka
    Cedeno, Ryan
    Chen, Linsu
    Chernikoff, Dan
    Cheung, Alex
    Chirita, Razvan
    Curson, Benjamin
    Ebert, Jessica C.
    Hacker, Coleen R.
    Hartlage, Robert
    Hauser, Brian
    Huang, Steve
    Jiang, Yuan
    Karpinchyk, Vitali
    Koenig, Mark
    Kong, Calvin
    Landers, Tom
    Le, Catherine
    Liu, Jia
    McBride, Celeste E.
    Morenzoni, Matt
    Morey, Robert E.
    Mutch, Karl
    Perazich, Helena
    Perry, Kimberly
    Peters, Brock A.
    Peterson, Joe
    Pethiyagoda, Charit L.
    Pothuraju, Kaliprasad
    Richter, Claudia
    Rosenbaum, Abraham M.
    Roy, Shaunak
    Shafto, Jay
    Sharanhovich, Uladzislau
    [J]. SCIENCE, 2010, 327 (5961) : 78 - 81
  • [9] Noninvasive prenatal screening or advanced diagnostic testing: caveat emptor
    Evans, Mark I.
    Wapner, Ronald J.
    Berkowitz, Richard L.
    [J]. AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY, 2016, 215 (03) : 298 - 305
  • [10] An Update on Common Chromosome Microdeletion and Microduplication Syndromes
    Goldenberg, Paula
    [J]. PEDIATRIC ANNALS, 2018, 47 (05): : E198 - E203