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学科主题: 基础医学
题名:
Prenatal diagnosis of I own syndrome using cell-free fetal DNA in amniotic fluid by quantitative fluorescent polymersase chain reaction
作者: 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
发表日期: 2014-05-20
DOI: 10.3760/cma.j.issn.0366-6999.20132609
卷: 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
所属项目编号: 20090001120102 ; 2012YQ09019707
项目资助者: Research Fund for the Doctoral Program of Higher Education ; National Special Fund for the Development of Major Research Equipment and Instruments
WOS记录号: WOS:000336477100019
Citation statistics:
内容类型: 期刊论文
版本: 出版稿
URI标识: http://ir.bjmu.edu.cn/handle/400002259/67680
Appears in Collections:基础医学院_医学遗传学系_期刊论文

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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

Recommended Citation:
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.
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