QF-PCR与CMA技术在稽留流产及细胞学检查中的联合应用  

Combined application of QF-PCR and CMA technology in missed abortion and cytological examination

作　　者：罗桂香[1] 李磊[1] 肖鸽飞[1] 陈晓薇[2] 李恋湘 LUO Gui-xiang;LI Lei;XIAO Ge-fei;CHEN Xiao-wei;LI Lian-xiang(Department of Clinical Laboratory/Institute of Genetics,Zhuhai Maternity and Child Health Hospital,Zhuhai 519000,Guangdong,CHINA;Department of Clinical Laboratory/Institute of GeneticsPrenatal Diagnosis Center,Zhuhai Maternity and Child Health Hospital,Zhuhai 519000,Guangdong,CHINA)

机构地区：[1]珠海市妇幼保健院检验科/遗传研究所,广东珠海519000 [2]珠海市妇幼保健院产前诊断中心,广东珠海519000

出　　处：《海南医学》2021年第11期1421-1425,共5页Hainan Medical Journal

基　　金：广东省珠海市科技创新局项目(编号:20191208E030013)。

摘　　要：目的探讨染色体微阵列芯片技术(CMA)和定量荧光PCR技术(QF-PCR)在稽留流产物及羊水细胞遗传学检查中的应用价值与方法学评价。方法回顾性分析2018年11月至2020年2月珠海市妇幼保健院妇科门诊169份稽留流产的绒毛组织及产前诊断中心进行孕中期羊膜腔穿刺的224例孕妇的临床资料,所有孕妇同时接受QF-PCR及CMA两种方法进行病因诊断,比较两种技术在非整倍体数目异常及结构异常诊断中的符合度。结果CMA分析169例流产绒毛,胎儿染色体异常检出119例(70.4%),其中数目异常为107例(89.9%),结构异常12例(10.1%),其中13、18、21三体及性染色体非整倍体异常在QF-PCR中检出率为100%,224例羊水细胞中QF-PCR检出21三体39例,18三体6例,13三体1例,46,XO 6例,47,XXX 4例,47,XXY 13例,47,XYY 4例,1例疑为45,XO嵌合体。检出5种常见染色体异常74例(33.0%)。以上病例均在CMA成功检出,CMA检出微变异150例(67.0%),7例拷贝数纯合状态(CNV AOH),2例无法有效识别异源性单亲二倍体(hetero UPD),检出率为99.1%。结论QF-PCR技术可快速诊断常见染色体非整倍体数目异常,可有效检出45,XO及47,XXY等性染色体拷贝数异常,检出率达到100%。但其存在局限性,只能检出大于20%的嵌合体,对于染色体存在的结构异常无法检出。CMA技术对小片段CNV的检测具有更高的检出能力,为基因型与表型的相关性研究提供依据并对夫妻双方再生育进行遗传风险评估和指导。Objective To explore the application value and methodological evaluation of chromosomal microarray analysis(CMA) and quantitative fluorescent PCR(QF-PCR) in cytogenetic examination of retained products of conception after missed abortion and amniotic fluid. Methods A retrospective analysis was conducted on the specimen data of the villous tissue samples of 169 missed abortions from the gynecological outpatient clinic, as well as the amniotic fluid samples of 224 pregnant women undergoing amniocentesis in the second trimester from the prenatal diagnosis center, at Zhuhai Maternity and Child Health Hospital during November 2018 and February 2020. All pregnant women received both QF-PCR and CMA methods for etiological diagnosis. Comparison was performed on the coincidence of the two techniques in the diagnosis of aneuploidy(numerical abnormalities) and structural abnormalities. Results In169 cases of chorionic villi in retained products of conception after missed abortion, 119 cases(70.4%) of fetal chromosomal abnormalities were detected by CMA, including 107 cases(89.9%) of numerical abnormalities and 12 cases(10.1%) of structural abnormalities. The detection rate of trisomy 13, trisomy 18, trisomy 21, and sex chromosome aneuploidies was 100% by QF-PCR. In the 224 cases of amniotic fluid cells, 39 cases of trisomy 21, 6 cases of trisomy 18,and 1 case of trisomy 13 were detected by QF-PCR, as well as 6 cases of 46,XO chimera, 4 cases of 47,XXX chimera,13 cases of 47, XXY chimera, 4 cases of 47,XYY chimera, and 1 case of suspected 45,XO chimera. 74 cases(33.0%) of5 common chromosomal abnormalities were detected. All the above cases were successfully detected by CMA, and 150 cases(67.0%) of microvariations, 7 cases of copy number homozygous(CNV AOH), and 2 cases of heterogeneous uniparental diploids(hetero UPD) that cannot be effectively identified were also detected by CMA;the detection rate was99.1%. Conclusion QF-PCR can quickly diagnose the abnormal number of common chromosome aneuploidies, and can effectively det

关 键 词：染色体微阵列分析 定量荧光PCR 稽留流产 嵌合体 非整倍体 

分 类 号：R714.21[医药卫生—妇产科学]