|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|
|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|
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.
|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|
|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
|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.|
|Prenatal diagnosis o（920KB）||期刊论文||出版稿||开放获取||CC BY-NC-SA||浏览 请求全文|