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学科主题基础医学
Prenatal diagnosis of I own syndrome using cell-free fetal DNA in amniotic fluid by quantitative fluorescent polymersase chain reaction
Wu Dan1; Chi Hongbin2; Shao Minjie2; Wu Yao1; Jin Hongyan2; Wu Baiyan1; Qiao Jie2
关键词amniotic fluid supernatant cell-free fetal DNA fragment quantitative fluorescent polymerase chain reaction short tandem repeat analysis trisomy 21 syndrome
刊名CHINESE MEDICAL JOURNAL
2014-05-20
DOI10.3760/cma.j.issn.0366-6999.20132609
127期:10页:1897-1901
收录类别SCI
文章类型Article
WOS标题词Science & Technology
类目[WOS]Medicine, General & Internal
研究领域[WOS]General & Internal Medicine
关键词[WOS]ARRAY-CGH ANALYSIS ; QF-PCR ; MATERNAL PLASMA ; NUCLEIC-ACIDS ; DOWN-SYNDROME ; ANEUPLOIDIES ; SAMPLES ; EXPERIENCE ; NONDISJUNCTION ; FRAGMENTATION
英文摘要

Backgroud Amniotic fluid (AF) supernatant contains cell-free fetal DNA (cffDNA) fragments. This study attempted to take advantage of cffDNA as a new material for prenatal diagnosis, which could be combined with simple quantitative fluorescent polymerase chain reaction (QF-PCR) to provide an ancillary method for the prenatal diagnosis of trisonny 21 syndrome.

Methods AF supernatant samples were obtained from 27 women carrying euploid fetuses and 28 women carrying aneuploid fetuses with known cytogenetic karyotypes. Peripheral blood samples of the parents were collected at the same time. Short tandem repeat (STR) fragments on chromosome 21 were amplified by QF-PCR. Fetal condition and the parental source of the extra chromosome could be determined by the STR peaks.

Results The sensitivity of the assay for the aneuploid was 93% (26/28; confidence interval, Cl: 77%-98%) and the specificity was 100% (26/26; Cl: 88%-100%). The determination rate of the origin of the extra chromosome was 69%. The sensitivity and the specificity of the assay in the euploid were 100% (27/27).

Conclusions Trisomy 21 can be prenatally diagnosed by the QF-PCR method in AF supernatant. This karyotype analysis method greatly reduces the requirement for the specimen size. It will be a benefit for early amniocentesis and could avoid pregnancy complications. The method may become an ancillary method for prenatal diagnosis of trisomy 21.

语种英语
WOS记录号WOS:000336477100019
项目编号20090001120102 ; 2012YQ09019707
资助机构Research Fund for the Doctoral Program of Higher Education ; National Special Fund for the Development of Major Research Equipment and Instruments
引用统计
被引频次:2[WOS]   [WOS记录]     [WOS相关记录]
文献类型期刊论文
版本出版稿
条目标识符http://ir.bjmu.edu.cn/handle/400002259/67680
专题北京大学基础医学院_医学遗传学系
北京大学基础医学院
北京大学第三临床医学院_妇产科
北京大学第三临床医学院_生殖医学中心
作者单位1.Peking Univ, Hlth Sci Ctr, Dept Med Genet, Beijing 100191, Peoples R China
2.Peking Univ, Hosp 3, Reprod Med Ctr, Beijing 100191, Peoples R China
推荐引用方式
GB/T 7714
Wu Dan,Chi Hongbin,Shao Minjie,et al. Prenatal diagnosis of I own syndrome using cell-free fetal DNA in amniotic fluid by quantitative fluorescent polymersase chain reaction[J]. CHINESE MEDICAL JOURNAL,2014,127(10):1897-1901.
APA Wu Dan.,Chi Hongbin.,Shao Minjie.,Wu Yao.,Jin Hongyan.,...&Qiao Jie.(2014).Prenatal diagnosis of I own syndrome using cell-free fetal DNA in amniotic fluid by quantitative fluorescent polymersase chain reaction.CHINESE MEDICAL JOURNAL,127(10),1897-1901.
MLA Wu Dan,et al."Prenatal diagnosis of I own syndrome using cell-free fetal DNA in amniotic fluid by quantitative fluorescent polymersase chain reaction".CHINESE MEDICAL JOURNAL 127.10(2014):1897-1901.
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