Full-Text Search:
Home|Journal Papers|About CNKI|User Service|FAQ|Contact Us|中文
《Chongqing Medicine》 2017-04
Add to Favorite Get Latest Update

Application of CNVplex combined with STR assay for genetic etiology exploration in chorionic villus of recurrent spontaneous abortion

Yang Lan;Yang Yuefeng;Wang Qiaoxia;Xu Yiqin;Yang Canfeng;Xiao Jianping;Prenatal Diagnosis Center,Wuxi Maternal and Child Health Hospital Affiliated Nanjing Medical University;Department of Family Planning,Wuxi Maternal and Child Health Hospital Affiliated Nanjing Medical University;  
Objective The study is to present a novel assay for rapid detection of fetal aneuploidies in chorionic villus for spontaneous abortion.Methods Fetal chorionic villus samples were collected from 60 cases of women diagnosed with recurrent spontaneous abortion(RSA)before 13 weeks gestation.All samples were analyzed using CNVplex(copy number variations multiplex)assay and fluorescence in situ hybridization(FISH)in addition to chromosome analysis.All villi specimens were cell cultured and karyotyped to confirm the fetal chromosomal status.Results Among 48 successfully cultured and karyotyped samples,the chromosomal abnormality rate was 60.42%.The results of karyotyping and the CNVplex assay were identical,both yielding 20 cases of euploidies,23 autosomal aneuploidies,3triplodies and 2×monosomies(Tumer Syndrome).However,FISH obtained only 38 results identical to karyotyping.Two cases of deletion and duplication of chromosome were also identified by CNVplex but not always by karyotyping.As for non-mosaic and non-structural abnormity samples,the concordance between cytogenetics and genotyping was 100%in CNVplex and 79.17%in FISH.Conclusion With CNVplex combined with STR(short tandem repeat)assay,we can detect the aneuploidy abnormalities as effectively as routine karyotyping without the need for cell culture,while also analyzing deletions and duplications(larger than 5 Mbp)that are not always detected by karyotype analysis.Our study demonstrates that CNVplex assay is an efficient,convenient,and accurate method to explore the etiology of miscarriage.
【Fund】: 无锡市医管中心面上项目(YGZXM1510);; 江苏省妇幼保健重点资助项目(F201315);; 无锡市科技发展基金项目(CSE31N1511)
【CateGory Index】: R714.21
Download(CAJ format) Download(PDF format)
CAJViewer7.0 supports all the CNKI file formats; AdobeReader only supports the PDF format.
【Citations】
Chinese Journal Full-text Database 3 Hits
1 He Miao;Kang Bing;Liao Shixiu;Yang Ke;Ding Xuebing;Wu Dong;Guo Qiannan;Hou Qiao fang;People's Hospital of Zhengzhou University;;Association of polymorphisms of HLA-DRB1 gene with unexplained recurrent spontaneous abortion in ethnic Hans from Henan[J];中华医学遗传学杂志;2014-04
2 Hu Ting;Liu Hongqian;Zhu Hongmei;Wang Jing;Zhang Haixia;Zhu Qian;Lai Yi;Qin Li;Wang He;Liu Shanling;Department of Obstetrics and Gynecology,Sichuan University;Laboratory of Genetics,Sichuan University;Key Laboratory of Obstetrics and Gynecology and Pediatric Diseases and Birth Defects of Ministry of Education;Laboratory of Cell and Gene Therapy,West China Institute of Women and Children's Health,West China Second Hospital,Sichuan University;;Application of multiple quantitative fluorescence polymerase chain reaction approach for rapid prenatal diagnosis of common chromosome aneuploidies~[J];中华医学遗传学杂志;2014-02
3 XIONG Li1, LIU Jie2, DENG Kang2, LIU Si-ping2, JIA Bei2, WU Rui-feng2, ZHONG Mei2, ZENG Rong1 Basic Medical Experiment Teaching Center1, Department of Gynecology and Obstetrics, Nanfang Hospital2, Southern Medical University, Guangzhou 510515, China;Chorionic villus cell culture and karyotype analysis in 110 cases of early spontaneous abortion[J];南方医科大学学报;2009-01
【Co-citations】
Chinese Journal Full-text Database 8 Hits
1 ZHU Rui;ZENG Aiqun;DU Jingchun;Department of Gynaecology and Obstetrics of the First Affiliated Hospital of Guangzhou Medical University;Kingmed Inspection Institute of Guangzhou Medical University;;Cell Culture and Karyotype analysis of 131 Cases of Early Spontaneous Abortion[J];贵州医科大学学报;2017-10
2 ZHANG Hong-zhan;LIN Qi;ZHU Yuan-chang;Fertility Center,Shenzhen Zhongshan Urology Hospital;;Analysis of the chorionic villous of patient with pericentric inversion of chromosome 9[inv(9)(p11 q13)]using MLPA[J];中国优生与遗传杂志;2017-07
3 Yuan Simin;Liao Can;Li Dongzhi;Huang Jiezhen;Hu Shunyan;Ke Ming;Zhong Huizhu;Yi Cuixing;Prenatal Diagnosis Center, Guangzhou Women and Children's Medical Center;;Chorionic villus cell culture and karyotype analysis in 1983 cases of spontaneous miscarriage[J];中华妇产科杂志;2017-07
4 Yang Lan;Yang Yuefeng;Wang Qiaoxia;Xu Yiqin;Yang Canfeng;Xiao Jianping;Prenatal Diagnosis Center,Wuxi Maternal and Child Health Hospital Affiliated Nanjing Medical University;Department of Family Planning,Wuxi Maternal and Child Health Hospital Affiliated Nanjing Medical University;;Application of CNVplex combined with STR assay for genetic etiology exploration in chorionic villus of recurrent spontaneous abortion[J];重庆医学;2017-04
5 Ding Xiangzhen;Department of Obstetrics and Gynecology,Maternal and Child Health Hospital of Tianmen City;;Relationship between MTHFRC677T gene polymorphism and RSA and URSA[J];西南国防医药;2017-01
6 YANG Jun-chan;JIANG Li-jiang;YE Gui-e;LUO Yi-ping;The First People's Hospital of Shunde;;The relationship between MTHFRC677T gene polymorphism and the occurrence of RSA[J];中国优生与遗传杂志;2016-12
7 DENG Guo-sheng;Health Care Hospital for Women and Children in Yulin City,Guangxi Zhuang Nationality Autonomous Region;;Progress of missed abortion villi chromosome testing[J];中国优生与遗传杂志;2016-09
8 ZHONG Juqing;LI Haixia;Department of Obstetrics,the Affiliated People s Hospital of Hubei Medical College;Department of Gynecology,Shiyan Maternal and Child Health-Care Hospital;;Expression of cell cycle regulatory proteins in villus and decidual tissue from patients with early abortion and study the correlation of expression and occurrence of spontaneous abortion[J];临床与病理杂志;2016-08
【Secondary Citations】
Chinese Journal Full-text Database 7 Hits
1 SUN Fu-ting,LI Ting-xiao,WANG Li-ping,LI Xin-ju,HOU Jun.(Weifang People′s Hospital,Shandong Weifang,261041);A study of relevance between polymorphism the of HLA-DRB1 allele and recurrent spontaneous abortion.[J];中国优生与遗传杂志;2009-06
2 YI Cui-xing,PNA Min,HU Shun-yan,YUAN Si-min,LIAO Can.(Institute of Healthy Birth and Perinatology,Guangzhou Maternal and Neonatal Hospital,510180);97 cases of chorionic villus cultivation and karyotype analysis for spontaneous abortion[J];中国优生与遗传杂志;2007-09
3 ZHENG Mei-ling*, NIU Li-yun. *Department of Obstetrics and Gynecology, First Clinical College, Shanxi Medical University, Taiyuan 030001,China;Association of soluble human leukocyte antigen DQB1 with recurrent spontaneous abortion[J];中华妇产科杂志;2006-03
4 MA Hong-jing1, YIN Xiao-lin1, GUO Kun-yuan1, XIAO Lu-lu2, YE Xin1. 1(Department of Hematology, Zhujiang Hospital, Southern Medical University, Guangzhou, Guangdong, 510282 P.R.China); 2(Guangzhou Tissue Typing Center, Guangzhou, Guangdong, 510095 P.R. China);HLA class Ⅰ and Ⅱ polymorphism and haplotypes in Guangdong Han population[J];中华医学遗传学杂志;2005-04
5 QIAN Wei-ping 1,2 ,TAN Yu-mei 1 ,SONG Dan 1 ,TAN Yue-qiu 2 , LU Guang-xiu 2,* (1.Reproductive Medical Center, Luohu Hospital,Shenzhen 518001, China; 2.Institute of Reproduction andStem Cell Engineering,Central South University, Changsha 410078, China);Cytogenetic study of 1780 cases of spontaneous abortion[J];中南大学学报(医学版);2005-03
6 LIN Qide *,LU Peihua,WANG Xipeng,et al *Department of Obstetrics and Gynecology,Renji Hospital Affilated to Shanghai Second Medical University,Shanghai 200001, China;The study on human leucocyte antigen DQ region genes polymorphism in unexplained habitual abortion patients[J];中华妇产科杂志;2001-05
7 LI Wei *, SUN Yanmei, SHAN Xiaoyan,ZHI Hong, YUAN Qingzhen, GE Jinglian, ZHANG Zhixing.* HLA Laboratory, Beijing Red Cross Blood Center, Beijing, 100088 P.R.China E mail:lwhla @ 163.net;Polymorphism of HLA DRB1, DQB1 in the Hans of north China[J];中华医学遗传学杂志;1999-02
©2006 Tsinghua Tongfang Knowledge Network Technology Co., Ltd.(Beijing)(TTKN) All rights reserved