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, China[4]Department of Obstetrics and Gynecology, Jiangmen Central Hospital, Affiliated Jiangmen Hospital of Sun Yat-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, China[8]Reproductive Medicine Center, Jiangmen Central Hospital, Affiliated Jiangmen Hospital of Sun Yat-Sen University, Jiangmen, China[9]Key Laboratory for Major Obstetric Diseases of Guangdong, Key Laboratory for Reproduction and Genetics of Guangdong Higher Education Institutes, Guangzhou, Guangdong, China[10]Department of Prenatal Diagnosis and Fetal Medicine,Third Affiliated Hospital of Guangzhou Medical University, Guangzhou, Guangdong, China[11]Prenatal Diagnosis Center, Southwest Hospital, Chongqing , China[12]Department of Obstetrics and Gynecology, Bazhong Central Hospital, Bazhong, China[13]Department of Obstetrics and Gynecology, Sichuan Provincial People’s Hospital, Chengdu,Sichuan, China四川省人民医院[14]Genetic Diagnosis Center and Reproductive Center, Yue Bei People’s Hospital, Shaoguan, Guangdong , China[15]Faculty of Environmental Science and Engineering, Kunming University of Science and Technology,Kunming, Yunnan, China[16]Genetic Diagnosis Center, First People’s Hospital 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[20]Department of Medical Genetics, Faculty of Medical Sciences, Tarbiat Modares University,Tehran, Iran[21]NIMGenetics, Madrid[22]Servicio de Ginecología y Obstetricia, Hospital General San Jorge, Huesca[23]Laboratorio de Genética Molecular AbaCid, Hospitales HM, Madrid,Spain[24]GenePlanet Ltd[25]Dravlje Health Center-IVF[26]Division of Obstetrics and Gynecology, Department of Perinatology, University Medical Centre,Ljubljana, Slovenia[27]Gene Health Co Ltd, Taipei, Taiwan,China[28]Department of Prenatal Diagnosis and Fetal Medicine, Shanghai First Maternity and Infant Hospital, School of Medicine, Tongji University, Shanghai,China[29]Laboratory of Clinical 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 Maternal Fetal 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, China[35]and BGI-Guangzhou Medical Laboratory, BGI-Shenzhen,Guangzhou, Guangdong, China
Noninvasive prenatal screening for aneuploidy using cell-free DNA (cfDNA) has been used since 2011 to identify fetal genetic disorders such as trisomies 13, 18, and 21. However, these tests can give false-positive results or fail all together when other conditions, such as maternal cancer, are present. Studies suggest that maternal cancer can result in the finding of multiple chromosomal aneuploidies in cfDNA tests. This study aimed to determine if multiple chromosomal aneuploidies in cfDNA tests can be used in combination with other cancer markers to reliably detect presymptomatic maternal cancer. This was a multicenter, retrospective study of 1.93 million pregnant women who underwent cfDNA screening in China between January 2016 and December 2017. Test records were used to identify those women whose initial test was positive for multiple chromosomal aneuploidies (n = 639). Of these, 542 retrospective interviews and online questionnaires were conducted to confirm the initial result; this resulted in the identification of 41 cancer cases and 501 noncancer cases. To estimate the risk of maternal cancer, the authors used a novel cancer detection pipeline (CDP) algorithm, which utilized genomic profiling of copy-number variations. The CDP algorithm was also combined with 8 other plasma tumor markers to determine if the algorithm could be improved. The finding of multiple chromosomal aneuploidies alone had a positive predictive value (PPV) of 7.6%(41/542) for detecting maternal cancer. Using the CDP algorithm in women with multiple chromosomal aneuploidies, 82.9% (34/41) of cancer cases were identified, and 84.2% (422/501) of false-positive cases were excluded. When the plasma tumor markers were combined with the CDP algorithm, the PPV was 75.0%. In conclusion, this study provides additional evidence that multiple chromosomal aneuploidy findings in cfDNA test are associated with maternal cancer. It also suggests that identification ofmultiple chromosomal aneuploidies in combination with the CDP algorithmmay be a better predictor of presymptomatic cancer in pregnant women. Adding the plasma tumor markers to the CDP algorithm can further improve the PPV for detecting cancer.
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
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].OBSTETRICAL & GYNECOLOGICAL SURVEY.2020,75(3):155-157.doi:10.1097/01.ogx.0000657372.14204.f0.
APA：
Xing Ji,Jia Li,Yonghua Huang,Pi-Lin Sung,Yuying Yuan...&Mao Mao.(2020).Identifying Occult Maternal Malignancies From 1.93 Million Pregnant Women Undergoing Noninvasive Prenatal Screening Tests.OBSTETRICAL & GYNECOLOGICAL SURVEY,75,(3)
MLA：
Xing Ji,et al."Identifying Occult Maternal Malignancies From 1.93 Million Pregnant Women Undergoing Noninvasive Prenatal Screening Tests".OBSTETRICAL & GYNECOLOGICAL SURVEY 75..3(2020):155-157
