荧光原位杂交技术产前诊断先天性心脏病22q11.2微缺失应用价值  

The application value of fluorescence in situ hybridization in the detection of prenatal congenital heart disease with 22q11.2 microdeletion

作　　者：辛毅[1] 潘晓冬[1] 刘晴[2] 丁书芳[2] 刘陶[2] 

机构地区：[1]首都医科大学附属北京安贞医院北京市心肺血管疾病研究所,北京100029 [2]首都医科大学附属北京安贞医院妇产科,北京100029

出　　处：《心肺血管病杂志》2012年第3期236-240,共5页Journal of Cardiovascular and Pulmonary Diseases

基　　金：国家卫生部科研基金课题(NO:WKJ2007-3-001);省部共建教育部心血管重塑相关疾病重点实验室(NO.110267)

摘　　要：目的:探讨荧光原位杂交技术(FISH)检测先天性心脏病22q11.2微缺失产前诊断的临床应用价值。方法:选择70例有高危妊娠指征的孕妇羊水细胞作为病例组,30例临床诊断指征正常、剖宫产分娩的孕妇羊水细胞作为对照组,抽取16～27w孕妇羊水细胞利用21、13染色体位点和18、X、Y染色体着丝粒及22q11.2微缺失3组探针,用FISH技术对未培养羊水细胞进行检测;同时对所有受检者的羊水细胞进行培养,行染色体核型分析。结果:70例病例组FISH检测获得诊断结果,检出10例异常结果,其中5例染色体非整倍体及5例22q11.2微缺失;同时行羊水细胞染色体核型分析,只检出5例染色体非整倍体改变;与5例染色体非整倍体改变FISH检测结果相符;而应用FISH技术检出5例22q11.2微缺失胎儿与其病例的引产前影像学检查结果、尸体解剖结果完全相符。结论:FISH技术检出22q11.2微缺失病例,可明显提高先天性心脏病产前诊断的检出率,作为重要辅助性检查项目,有其临床推广价值。Objective：To evaluate clinical value of fluorescence in situ hybridization（FISH） in the diagnosis of prenatal congenital heart disease with 22q11.2 microdeletion.Methods：Amniotic fluid cells were collected from 70 pregnant women with indications of pathological diagnosis 16-27 weeks post pregnancy（Experimental group） and from 30 pregnant women with normal clinical index and cesarean deliveries（Control group）.21,13 chromosomal locus,18,X,Y centromere and 22q11.2 microdeletion probes were used respectively as FISH on uncultured amniotic fluid cells to inspect abnormality of the chromosome.Meanwhile,amniotic fluid cells from each individuals were cultured and conventional karyotype analysis was conducted.Results：10 cases were detected as abnormal chromosome among the 70 pregnant women with 5 cases of chromosomal aneuploidy and 5 cases of 22q11.2 microdeletion;Meanwhile,karyotype analysis of cultured amniotic fluid cells detected merely 5 cases of chromosomal aneuploidy,which was consistent with FISH result.FISH detected 5 patients with 22q11.2 microdeletion,which were entirely consistent with imaging findings before induction of labor and fetal autopsy results.Conclusion：FISH can detect 22 q11.2 microdeletions in patients with congenital heart disease and obviously improve the prenatal diagnostic rate,therefore it has the clinical value of popularization as an auxiliary examination items.

关 键 词：荧光原位杂交技术 先天性心脏病 22Q11.2微缺失 

分 类 号：R54[医药卫生—心血管疾病]