QF-PCR技术在1166例产前诊断染色体非整倍体疾病中的应用价值  

Application value of QF-PCR in 1166 cases of prenatal diagnosis of chromo some aneuploidy

作　　者：梁罕超[1] 吴丽芳 许冠杰 朱素优 LIANG Hanchao;WU Lifang;XU Guanjie;ZHU Suyou(Huizhou Second Maternal and Child Health Hospital,Huizhou Guangdong 516008)

机构地区：[1]惠州市第二妇幼保健院,广东惠州516008

出　　处：《当代医药论丛》2023年第16期122-125,共4页

基　　金：惠州市科技计划(医疗卫生),项目编号:2021WC0106098。

摘　　要：目的:探究荧光定量聚合酶链反应(QF-PCR)技术在产前诊断染色体非整倍体疾病中的应用价值。方法:选取2021年1月至2022年8月在惠州市第二妇幼保健院进行羊膜腔穿刺检查的1166例孕妇作为研究对象。对这些孕妇的羊水均采用定量荧光定量聚合酶链反应(QF-PCR)技术进行检测,并行羊水细胞培养及核型分析,对两种方法的检测结果进行比较。结果:采用QF-PCR技术进行检测的结果显示,1166例胎儿中共检出染色体非整倍体数目异常胎儿53例(4.55%),其中21-三体异常28例,18-三体异常10例,13-三体异常3例,性染色体异常11例,三倍体异常1例,与染色体核型分析结果完全符合。染色体核型分析发现性染色体嵌合体7例,其中5例与QFPCR检测结果符合,2例嵌合比例低于20%者QF-PCR技术未检出;发现染色体结构异常48例,QF-PCR技术均未检出。QF-PCR检测与染色体核型分析结果的符合率为95.79%。结论:QF-PCR技术在筛查染色体非整倍体异常疾病中具有较高的应用价值,该项技术是一种简单、高效、可靠的染色体非整倍体疾病产前诊断技术,可弥补染色体核型分析时间长的不足,但该方法也存在一定的局限性,只能检出大于20%的嵌合体,亦无法检出染色体结构异常。Objective:To explore the application value of quantitative fluorescent polymerase chain reaction(QF-PCR)in prenatal diagnosis of chromosome aneuploidy.Methods:1166 pregnant women who underwent amniocentesis in the Second Maternal and Child Health Hospital of Huizhou City from January 2021 to August 2022 were selected as the study objects.The amniotic fluid of these pregnant women was detected by quantitative fluorescence quantitative polymerase chain reaction(QF-PCR)technology,and the amniotic fluid cell culture and karyotype analysis were conducted.The results of the two methods were compared.Result:The results of QF-PCR showed that 53 cases(4.55%)of 1166 fetuses were detected with abnormal chromosome aneuploidy number,including 28 cases with trisomy 21,10 cases with trisomy 18,3 cases with trisomy 13,11 cases with sex chromosome abnormality and 1 case with triploid abnormality.The results of chromosome karyotype analysis were in good agreement with each other.Chromosome karyotype analysis found 7 cases of sex chromosome chimera,of which 5 cases were consistent with the QF-PCR detection results,and 2 cases were not detected by QF-PCR if the chimera ratio was less than 20%.Chromosome structural abnormalities were found in 48 cases,but none were detected by QF-PCR.The coincidence rate between QF-PCR and karyotype analysis was 95.79%.Conclusion:QF-PCR technology has high application value in the screening of chromosome aneuploidy abnormalities.This technology is a simple,efficient and reliable prenatal diagnosis technology for chromosome aneuploidy diseases,which can make up for the lack of long chromosome karyotype analysis time.However,this method also has certain limitations,only more than 20%of chimeras can be detected.Ch romosomal structural abnormalities could not be detected.

关 键 词：染色体非整倍体疾病 荧光定量聚合酶链反应 染色体核型分析 产前诊断 

分 类 号：R446[医药卫生—诊断学]