应用QF-PCR技术对胎儿常见非整倍染色体的快速诊断  

Rapid prenatal diagnosis of fetal common chromosome aneuploidies by QF-PCR method

作　　者：张敏[1] 徐两蒲[1] 黄海龙[1] 王燕[1] 林娜[1] 陈雪美[1] 陈梅环 王林铄[1] 林元[1] 

机构地区：[1]福建省妇幼保健院产前诊断中心,福州350001

出　　处：《海峡预防医学杂志》2017年第3期4-6,72,共4页Strait Journal of Preventive Medicine

基　　金：福建省科技厅重大专项(No.2013YZ0002-1);福建省临床重点专科建设项目(No.20121589)

摘　　要：目的探讨多重荧光定量PCR(QF-PCR)技术在快速产前诊断常见非整倍染色体中的临床应用价值。方法应用QF-PCR技术快速诊断205例产前羊水标本中的13、18、21、X、Y染色体,并与常规核型分析结果对比。结果 205例产前诊断标本QF-PCR法共检出17例非整倍染色体,其中10例21三体、3例18三体、1例13三体和3例性染色体异常,与染色体核型分析结果一致;另有1例平衡易位、1例嵌合体及3例倒位核型无法通过QFPCR检测出,两种方法一致性97.6%。结论QF-PCR作为一种快速诊断常见非整倍染色体技术,结果准确可靠,可在产前诊断应用中发挥重要作用。Objective To evaluate the clinical value of quantitative fluorescent polymerase chain reaction （QF-PCR） for rapid prenatal diagnosis of common chromosome aneuploidies. Methods Totally 205 amniotic fluid samples were detected by QF-PCR for aneuploidies of chromosomes 13,18,21, X and Y for prenatal diagnosis,and the results were compared with those obtained by conventional cytogenetic analysis. Results Totally 17 numerical abnormalities were diagnosed by QF-PCR method in 205 fetal samples,trisomy 21 in 10 cases,trisomy 18 in 3 cases,trisomy 13 in 1 case, and sex chromosome aneuploidies in 3 cases, they were in concordance with the results by karyotype method. QF-PCR failed to detect out a translocation in one case, a mosaicism in one case and an inversion in three cases. Conclusion As a technique of rapidly and correctly diagnosis of common aneuploidies, QF-PCR is considered as important clinical application in prenatal diagnosis.

关 键 词：产前诊断 QF-PCR 核型 非整倍体 

分 类 号：R714.5[医药卫生—妇产科学]