CAJ | 학술논문

目的：探讨应用孕妇血浆中游离胎儿高通量基因测序技术在无创性产前诊断中的可行性。方法对3368例孕妇进行中孕期血清学筛查的同时，筛查出的高风险病例平行进行 cffDNA 高通量测序；对需进行产前诊断者，同时进行胎儿染色体核型以及 MLPA 分析。结果中孕期三联血清学筛查3368例，血清学筛查21三体高危共347例，经高通量基因测序技术检测后结果为唐氏高危20例；经 MLPA 分析，结果得出347例标本中21-三体病例为20例；最后通过羊水细胞核型分析证实20例与无创基因检测结果一致。应用孕妇血浆中游离胎儿 DNA高通量基因测序技术诊断胎儿的21号染色体非整倍体异常的敏感度为100．00％（20/20），特异性为100．00％（347/347），假阳性率为0．00％（0/347）。结论无创性产前诊断技术具有无创、准确、快速的诊断优势，该技术具有良好的临床应用前景。
목적：탐토응용잉부혈장중유리태인고통량기인측서기술재무창성산전진단중적가행성。방법대3368례잉부진행중잉기혈청학사사적동시，사사출적고풍험병례평행진행 cffDNA 고통량측서；대수진행산전진단자，동시진행태인염색체핵형이급 MLPA 분석。결과중잉기삼련혈청학사사3368례，혈청학사사21삼체고위공347례，경고통량기인측서기술검측후결과위당씨고위20례；경 MLPA 분석，결과득출347례표본중21-삼체병례위20례；최후통과양수세포핵형분석증실20례여무창기인검측결과일치。응용잉부혈장중유리태인 DNA고통량기인측서기술진단태인적21호염색체비정배체이상적민감도위100．00％（20/20），특이성위100．00％（347/347），가양성솔위0．00％（0/347）。결론무창성산전진단기술구유무창、준학、쾌속적진단우세，해기술구유량호적림상응용전경。
Objective To investigate the feasibility of applicating high-flux sequencing analysis of free fetal DNA from maternal plasma in non-invasive prenatal diagnosis.Methods Serum of 3 368 pregnant women were used for the purpose of serological prenatal screening,347cases with high risk were chosen to analyze their fetal chromo-some sequence copy numbers by high-flux sequencing.Amniotic fluid cell culture,karyotype analysis and MLPA tech-nique have been taken for all samples with high risk.Results Twenty cases among 347 cases were detected with fetal chromosomal abnormalities by high-flux sequencing and MLPA technique analysis were high risk fetals,among which 20 were confirmed by karytyping to be chromosomal aneuplodies(20 cases of 21 trisomy).The sensitivity and speci-ficity of high-flux sequencing both were 100.00%.Conclusion Noninvasive prenatal diagnostic techniques have the advantage of non-invasive,accurate and time saving.It has good prospects of clinical application.