摘要
目的评价定量荧光PCR(Quantitative fluorescent polymerase chain reaction,QF-PCR)技术在常见染色体非整倍体病诊断中的价值。方法对2275例因唐氏筛查高风险或高龄行介入性产前诊断的标本,用QF-PCR方法快速检测21、18、13、X、Y染色体的数目,同时进行G显带染色体核型分析双盲检测。比较两种方法的检测结果,分析QF-PCR技术的敏感性和特异性。结果在2275例标本中,染色体核型分析检测到5种染色体非整倍体99例,其中非嵌合型非整倍体94例,嵌合型非整倍体5例;QF-PCR方法检测非嵌合型非整倍体与核型分析结果一致,QF-PCR检测2例嵌合型非整倍体,漏检3例嵌合型非整倍体。结论 QF-PCR技术对于21、18、13、X、Y染色体非嵌合型非整倍体异常的检测具有较好的敏感性和特异性,是一种简单、快速、可靠的染色体非整倍体分子诊断技术,可用于染色体非整倍体快速产前诊断。
Objective： To evaluate the application value of QF- PCR in detection of common aneuploidies in rapid prenatal diagnosis. Methods： A total of 2275 samples from pregnancies with positive Down syndrome screening or advanced age were investigated independently both QF- PCR and G- band karyotyping to detect aneuploidies of chromosomes 21,18,13,X and Y. Comparing the results from two methods to evaluate the sensitivity and specificity of QF- PCR. Results： Among 2275 samples,99 aneuploidies were detected by G- band karyotyping,in which 94 were nonmosaic aneuploidies and 5 were mosaic aneuploidies. QF- PCR and G- band karyotyping had consist results in detecting nonmosaic aneuploidies. Among 5 mosaic aneuploidies detected by G- band karyotyping, 2 were confirmed by QF- PCR. Conclusions： QF- PCR had good sensitivity and specifity in detecting nonmosaic of chromosome 21, 18,13,X and Y. QF- PCR is a robust and accurate method of rapid detecting aneuploidies and could be used in prenatal diagnosis.
出处
《中国优生与遗传杂志》
2014年第3期39-41,共3页
Chinese Journal of Birth Health & Heredity
