摘要
目的评估荧光定量PCR(QF-PCR)技术在胎儿染色体非整倍体快速诊断中应用价值。方法292例产前筛查异常孕妇接受染色体核型分析及QF-PCR检测,其中203例进行基因芯片检测。结果292例孕妇中,QF-PCR检出胎儿染色体非整倍体数目异常25例(8.6%),其中21三体12例,18三体4例,13三体1例,XO单体2例,XYY 3例,XXX 2例,XXY 1例。与染色体核型分析结果相比,一致率为100%。结论QF-PCR技术可快速诊断常见染色体非整倍体异常。
Objective To evaluate the rapid diagnostic value of quantitative fluorescent PCR(QF-PCR)in fetal chromosomal aneuploidy.Methods A total of 292 pregnant women with abnormal prenatal screening underwent karyotyping and QF-PCR,of which 203 received gene microarray analysis.Results Of 292 pregnant women,fetal chromosomal aneuploidy was determined by QF-PCR in 25 samples(8.6%),including 12 cases of trisomy 21,4 cases of trisomy 18,1 case of trisomy 13,2 cases of XO monomer,3 cases of XYY,2 case of XXX and 1 case of XXY.The coincidence rate between karyotyping and QF-PCR was 100%.Conclusion QF-PCR is feasible for rapid diagnosis of common chromosomal aneuploidy.
作者
刘运华
李登峰
李庆丽
熊爱群
王葭
邬丽红
廖悦余
LIU Yun-hua;LI Deng-feng;LI Qing-li;XIONG Ai-qun;WANG Jia;WU Li-hong;LIAO Yue-yun(Department of Medical Genetics Laboratory,Heyuan Maternal and Child Health Hospital,Heyuan 517000,China;Genetic Counseling Clinic,Heyuan Maternal and Child Health Hospital,Heyuan 517000,China)
出处
《广东医科大学学报》
2020年第6期689-694,共6页
Journal of Guangdong Medical University
基金
河源市科技计划项目(No.河科000827)。
