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  本文選題：產(chǎn)前檢測 + 羊膜腔穿刺術(shù)��； 參考：《安徽醫(yī)科大學(xué)》2014年碩士論文

【摘要】：目的應(yīng)用大規(guī)模并行基因組測序技術(shù)和羊水細胞染色體核型分析,進行胎兒染色體異常的產(chǎn)前診斷;并探討大規(guī)模并行基因組測序在產(chǎn)前檢測中運用的可行性。方法選擇2012年3月到2013年4月就診,孕齡在16~23周之間高齡妊娠、唐氏綜合征(Down syndrome)篩查高風(fēng)險、不良生育史和B超顯示胎兒異常等及無創(chuàng)DNA檢測提示陽性孕婦共176例,抽取孕婦外周血,提取血漿DNA,制備文庫,應(yīng)用高通量基因測序儀檢測,測得的基因序列與人類參考基因組比對并作統(tǒng)計分析;同時抽取羊水經(jīng)細胞培養(yǎng)后行染色體核型分析。結(jié)果以羊水染色體核型分析結(jié)果作為金標準,對176例孕婦行大規(guī)模并行基因組測序。測序檢出12例21三體型胎兒,164例非21三體型胎兒。其中12例21三體型胎兒中,經(jīng)核型分析得到驗證11例,1例測序結(jié)果為假陽性;測序方法對于21三體型胎兒的檢出率為100%,特異性為99.39%,誤診率為0.61%,診斷符合率為99.43%。測序發(fā)現(xiàn)1例18三體型胎兒,175例非18三體型胎兒,與羊水染色體核型結(jié)果比對,測序方法對于18三體型胎兒的檢出率為100%,特異性為100%,診斷符合率為100%。176例孕婦羊水染色體核型分析,檢出異常核型23例,其中染色體數(shù)目異常11例,染色體結(jié)構(gòu)異常12例。結(jié)論大規(guī)模并行基因組測序技術(shù)檢測胎兒21、18號染色體非整倍體異常,其敏感性和特異性與染色體核型分析具有較高的一致性,且具有安全性高、準確性好、易于高通量檢測等優(yōu)勢,值得臨床推廣。大規(guī)模并行基因組測序技術(shù)與羊水染色體核型分析的聯(lián)合應(yīng)用是保障母嬰健康,減少出生缺陷的有效措施。
[Abstract]:Objective to study the feasibility of large-scale parallel genome sequencing and amniotic fluid cell chromosome karyotype analysis in prenatal diagnosis of fetal chromosomal abnormalities. Methods from March 2012 to April 2013, 176 pregnant women with gestational age between 16 and 23 weeks were selected for screening for Down syndrome, abnormal birth history, fetal abnormality and noninvasive DNA test. Maternal peripheral blood was extracted, plasma DNA was extracted and library was prepared. The sequence was compared with the human reference genome and analyzed statistically by high-throughput gene sequencer, and the chromosome karyotype was analyzed after the amniotic fluid was cultured. Results based on the results of amniotic fluid chromosome karyotype analysis, 176 pregnant women were sequenced. 12 cases of 21 trisomy fetus were sequenced and 164 cases of non 21 trisomy fetus were detected. Among 12 cases of 21 trisomy fetus, 11 cases were confirmed to be false positive by karyotype analysis, and the detection rate, specificity, misdiagnosis rate and diagnostic coincidence rate for 21 trisomy fetus were 100, 99.39, 0.61and 99.43g, respectively. The results of sequencing showed that one fetus with 18 trisomy and 175 non-18 triploid fetuses were compared with the results of amniotic fluid chromosome karyotype. The detection rate and specificity of 18 trisomy fetus were 100 and 100 respectively. The diagnostic coincidence rate was 100. 176 pregnant women with amniotic fluid chromosome karyotype analysis. 23 cases of abnormal karyotype were detected, including 11 cases of abnormal chromosome number and 12 cases of abnormal chromosome structure. Conclusion Large-scale parallel genomic sequencing technique for the detection of chromosomal aneuploidy abnormalities of fetal chromosomes 21 and 18 is highly consistent with chromosome karyotype analysis, and has high safety and accuracy. Easy to high throughput detection and other advantages, worthy of clinical promotion. The combined application of large-scale parallel genomic sequencing and amniotic fluid chromosome karyotype analysis is an effective measure to protect maternal and infant health and reduce birth defects.
【學(xué)位授予單位】：安徽醫(yī)科大學(xué)
【學(xué)位級別】：碩士
【學(xué)位授予年份】：2014
【分類號】：R714.5

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本文編號：2074560