329例胎儿常见染色体非整倍体的快速检测  

Rapid detection of chromosomal aneuploidy in 329 cases of fetus

作　　者：李琼[1] 刘敏娟[1] 何丹 刘欢 解敏 王挺[1] 李红[1] 李海波[1] LI Qiong;LIU Min-Juan;HE Dan;LIU Huan;XIE Min;WANG Ting;LI Hong;LI Hai-bo(Center for Reproduction and Genetics,Suzhou Hospital Affiliated to Nanjing Medical University,Suzhou 215002,China;Guangzhou Darui Biotechnology Co.,Ltd.,Guangzhou 510665,China)

机构地区：[1]南京医科大学附属苏州医院生殖与遗传中心,江苏苏州215002 [2]广州市达瑞生物技术股份有限公司,广东广州510665

出　　处：《转化医学电子杂志》2018年第3期29-32,共4页E-Journal of Translational Medicine

基　　金：江苏省青年医学重点人才(QNRC2016238);江苏省卫计委科技项目(H2017073);江苏省医学创新团队(CXTDB2017013);苏州市临床医学中心(Szzx201505)

摘　　要：目的:评价定量荧光PCR(QF-PCR)技术在常见染色体非整倍体病诊断中的价值。方法:对329例因唐氏筛查高风险、无创产前基因检测高风险或高龄等行介入性产前诊断的羊水标本,用QF-PCR方法快速检测21、18、13、X、Y染色体的数目,并与金标准染色体核型分析进行对比。比较两种方法的检测结果,分析QF-PCR技术的灵敏性和特异性。结果:329例羊水标本中,染色体核型分析检测到5种染色体非整倍体87例,其中1例为21、13罗伯逊易位型的21三体;QF-PCR方法检测5种染色体非整倍体87例,与核型分析结果完全一致。结论:QF-PCR技术对于21、18、13、X、Y染色体数目异常的检测具有较好的灵敏性、特异性和准确性,是一种简单、快速、可靠的染色体非整倍体分子诊断技术,可用于染色体非整倍体快速产前诊断。Objective:To assess the diagnostic value of using a quantitative fluorescent polymerase chain reaction(QF-PCR)in detection of common chromosomal aneuploidies for rapid prenatal diagnosis.Methods:A total of 329 amniotic fluid samples from pregnancies with hign-risk detected by Down s syndrome screening or Noninvasive Prenatal Testing(NIPT)or advanced age were investigated independently both QF-PCR and karyotype analysis to investigate aneuploidies of chromosomes 21,18,13,X and Y.Then compare the results from two methods to evaluate the sensitivity and specifiticity of QF-PCR.Results:In 329 cases of amniotic fluid samples,5 chromosomal aneuploidy were detected in 87 cases,including 1 cases of 21 trisomy with 21 and 13 Robertson translocation.The results detected by QF-PCR were absolutely identical with karyotype analysis.Conclusion:QF-PCR had good sensitivity and specifity in detecting chromosome 21,18,13,X and Y.These results confirmed the usefulness of quantitative fluorescent multiplex PCR for the rapid prenatal diagnosis of selected chromosomal abnormalities.

关 键 词：定量荧光PCR 核型分析 非整倍体 产前诊断 

分 类 号：R714.55[医药卫生—妇产科学]