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Identifying occult maternal malignancies from 1.93 million pregnant women undergoing noninvasive prenatal screening tests

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收录情况： ◇ SCIE

作者：
Xing Ji[1,2] * ; Jia Li[3] * ; Yonghua Huang[4] * ; Pi-Lin Sung[5,6] * ; Yuying Yuan[3] * ; Qiang Liu[3] ; Yan Chen[3] ; Jia Ju[3] ; Yafeng Zhou[3] ; Shujia Huang[3] ; Fang Chen[3] ; Yuan Han[7] ; Wen Yuan[7] ; Cheng Fan[3] ; Qiang Zhao[4] ; Haitao Wu[8] ; Suihua Feng[4] ; Weiqiang Liu[9] ; Zhihua Li[10] ; Jingsi Chen[10] ; Min Chen[10] ; Hong Yao[11] ; Li Zeng[12] ; Tao Ma[13] ; Shushu Fan[14] ; Jinman Zhang[15,16] ; Ka Yiu Yuen[17] ; So Hin Cheng[17] ; Irene Wing Shan Chik[17] ; Nien-Tzu Liu[17] ; Jianyu Zhu[3] ; Siyuan Lin[17] ; Jeremy Cao[17] ; Steve Tong[17] ; Zhiyuan Shan[18] ; Wenyan Li[3] ; Mohammad Reza Hekmat[19] ; Masoud Garshasbi[19,20] ; Javier Suela[21] ; Yaima Torresc[21] ; Juan C. Cigudosa[21] ; F. J. Pérez Ruiz[22] ; Laura Rodríguez[23] ; Mónica García[23] ; Janez Bernik[24] ; Eva Traven[24] ; Uršula Reš[25] ; Nataša Tul[26] ; Ching-Fong Tseng[27] ; Depeng Zhao[28] ; Luming Sun[28] ; Qiong Pan[29] ; Li Shen[30] ; Mengyao Dai[1,2] ; Yuying Wang[3] ; Jian Wang[3,31] ; Huanming Yang[3,31] ; Ye Yin[3,32] ; Tao Duan [28] ; Baosheng Zhu[15,16] ; Mahesh Choolani[33] ; Xin Jin[3,34,35] ; Yingwei Chen[1] ; Mao Mao[3] ;
机构： [1]Center for Clinical Genetics, Xin Hua Hospital Affiliated to Shanghai Jiao Tong University, School of Medicine, Shanghai, China [2]Department of Genetics, Shanghai Institute for Pediatric Research, Shanghai, China [3]BGI Genomics, BGI-Shenzhen, Shenzhen,Guangdong, China [4]Department of Obstetrics and Gynecology, Jiangmen Central Hospital, Affiliated Jiangmen Hospital of SunYat-Sen University, Jiangmen, Guangdong, China [5]Department of Obstetrics and Gynecology, Taipei Veterans General Hospital,Taipei, Taiwan [6]Department of Obstetrics and Gynecology, School of Medicine, National Yang-Ming University, Taipei, Taiwan [7]BGI-Wuhan, BGI-Shenzhen, Wuhan, Guangdong, China [8]Reproductive Medicine Center, Jiangmen Central Hospital, AffiliatedJiangmen Hospital of Sun Yat-Sen University, Jiangmen, Guangdong, China [9]Key Laboratory for Major Obstetric Diseases ofGuangdong, Key Laboratory for Reproduction and Genetics of Guangdong Higher Education Institutes, Third Affiliated Hospital ofGuangzhou Medical University, Guangzhou, Guangdong, China [10]Department of Prenatal Diagnosis and Fetal Medicine, ThirdAffiliated Hospital of Guangzhou Medical University, Guangzhou, Guangdong, China [11]Prenatal Diagnosis Center, SouthwestHospital, Chongqing, China [12]Department of Obstetrics and Gynecology, Bazhong Central Hospital, Bazhong, Sichuan, China [13]Department of Obstetrics and Gynecology, Sichuan Provincial People’s Hospital, Chengdu, Sichuan, China [14]Genetic DiagnosisCenter and Reproductive Center, Yue Bei People’s Hospital, Shaoguan, Guangdong, China [15]Faculty of Environmental Science andEngineering, Kunming University of Science and Technology, Kunming, Yunnan, China [16]Genetic Diagnosis Center, First People’sHospital of Yunnan, Kunming, Yunnan, China [17]BGI HEALTH (HK), Hong Kong, China [18]BGI Europe A/S, Copenhagen, Denmark [19]Department of Medical Genetics, DeNA laboratory, Tehran, Iran [20]Department of Medical Genetics, Faculty of Medical Sciences,Tarbiat Modares University, Tehran, Iran [21]NIMGenetics, Madrid, Spain [22]Servicio de Ginecología y Obstetricia, Hospital GeneralSan Jorge, Huesca, Spain [23]Laboratorio de Genética Molecular AbaCid, Hospitales HM, Madrid, Spain [24]GenePlanet Ltd, Ljubljana,Slovenia [25]Dravlje Health Center-IVF, Ljubljana, Slovenia [26]Division of Obstetrics and Gynecology, Department of Perinatology,University Medical Centre, Ljubljana, Slovenia [27]Gene Health Co Ltd, Taipei, Taiwan [28]Department of Prenatal Diagnosis and Fetal Medicine, Shanghai First Maternity and Infant Hospital, School of Medicine, Tongji University, Shanghai, China [29]Laboratory ofClinical Genetics, Huai’an Maternity and Child Health Care Hospital of Jiangsu Province, Yangzhou University, Huai’an, Jiangsu,China [30]Department of Pathology, Shanghai Pu Nan Hospital, Shanghai, China [31]James D.Watson Institute of Genome Sciences,Hangzhou, Zhejiang, China [32]Department of Biology, University of Copenhagen, Copenhagen, Denmark [33]Division of MaternalFetal Medicine, Department of Obstetrics and Gynecology, Yong Loo Lin School of Medicine, National University of Singapore,Singapore, Singapore [34]School of Medicine, South China University of Technology, Guangzhou, Guangdong, China [35]BGIGuangzhouMedical Laboratory, BGI-Shenzhen, Guangzhou, Guangdong, China
出处：
DOI： 10.1038/s41436-019-0510-5
ISSN：

关键词： Noninvasive prenatal screening test Maternal malignancy Multiple chromosomal aneuploidies Cancer detection Plasma tumor marker

摘要：
Purpose: Multiple chromosomal aneuploidies may be associated with maternal malignancies and can cause failure of noninvasive prenatal screening (NIPS) tests. However, multiple chromosomal aneuploidies show poor specificity and selectivity for diagnosing maternal malignancies. Methods: This multicenter retrospective analysis evaluated 639 pregnant women who tested positive for multiple chromosomal aneuploidies on initial NIPS test between January 2016 and December 2017. Women were assessed using genome profiling of copy-number variations, which was translated to cancer risk using a novel bioinformatics algorithm called the cancer detection pipeline (CDP). Sensitivity, specificity, and positive predictive value (PPV) of diagnosing maternal malignancies were compared for multiple chromosomal aneuploidies, the CDP model, and the combination of CDP and plasma tumor markers. Results: Of the 639 subjects, 41 maternal malignant cancer cases were diagnosed. Multiple chromosomal aneuploidies predicted maternal malignancies with a PPV of 7.6%. Application of the CDP algorithm to women with multiple chromosomal aneuploidies allowed 34 of the 41 (83%) cancer cases to be identified, while excluding 422 of 501 (84.2%) of the false positive cases. Combining the CDP with plasma tumor marker testing gave PPV of 75.0%. Conclusion: The CDP algorithm can diagnose occult maternal malignancies with a reasonable PPV in multiple chromosomal aneuploidies-positive pregnant women in NIPS tests. This performance can be further improved by incorporating findings for plasma tumor markers.

基金：
National Key Research & Development Program of China [2016YFC0905400]; Young Scientists Fund of the National Natural Science Foundation of ChinaNational Natural Science Foundation of China [81601293]; Natural Science Foundation of Guangdong Province, ChinaNational Natural Science Foundation of Guangdong Province [2017A030306026]; Fund for Distinguished Young Scholars of South China University of China [2017JQ017]; Guangzhou Science and Technology Project [201400000004-5, 201508020247]; Pearl River Nova Program of Guangzhou [201506010065]; National Key R&D Program of China [2018YFC1002900, 2018YFC1002901]; High-level Talents of Guangdong [2016TX03R171]
语种：
外文
被引次数：
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PubmedID：
中科院(CAS)分区：
出版当年[2019]版：
大类 | 1 区 医学
小类 | 1 区 遗传学
最新[2023]版：
大类 | 1 区 医学
小类 | 1 区 遗传学
JCR分区：
出版当年[2018]版：
Q1 GENETICS & HEREDITY
最新[2023]版：
Q1 GENETICS & HEREDITY

影响因子： 最新[2023版] 最新五年平均 出版当年[2018版] 出版当年五年平均 出版前一年[2017版] 出版后一年[2019版]

第一作者：
第一作者机构： [1]Center for Clinical Genetics, Xin Hua Hospital Affiliated to Shanghai Jiao Tong University, School of Medicine, Shanghai, China [2]Department of Genetics, Shanghai Institute for Pediatric Research, Shanghai, China
共同第一作者：
通讯作者：
通讯机构： [3]BGI Genomics, BGI-Shenzhen, Shenzhen,Guangdong, China [34]School of Medicine, South China University of Technology, Guangzhou, Guangdong, China [35]BGIGuangzhouMedical Laboratory, BGI-Shenzhen, Guangzhou, Guangdong, China
推荐引用方式(GB/T 7714)：
Xing Ji,Jia Li,Yonghua Huang,et al.Identifying occult maternal malignancies from 1.93 million pregnant women undergoing noninvasive prenatal screening tests[J].GENETICS IN MEDICINE.2019,21(10):2293-2302.doi:10.1038/s41436-019-0510-5.
APA：
Xing Ji,Jia Li,Yonghua Huang,Pi-Lin Sung,Yuying Yuan...&Mao Mao.(2019).Identifying occult maternal malignancies from 1.93 million pregnant women undergoing noninvasive prenatal screening tests.GENETICS IN MEDICINE,21,(10)
MLA：
Xing Ji,et al."Identifying occult maternal malignancies from 1.93 million pregnant women undergoing noninvasive prenatal screening tests".GENETICS IN MEDICINE 21..10(2019):2293-2302

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