定量荧光PCR快速检测2322例胎儿常见染色体非整倍体结果分析

Rapid prenatal diagnosis of common chromosomal aneuploidies by quantitative fluorescene polymerase chain reaction:a retrospective analysis on 2322 clinical samples

目的回顾性分析应用定量荧光PCR(quantitive fluorescent PCR,QF-PCR)快速检测2322例产前诊断标本常见染色体非整倍体结果,评价QF-PCR在胎儿常见染色体非整倍体产前诊断中的应用价值。方法应用QF-PCR对2015年1月至2016年12月共2322例产前诊断标本针对13,18,21,X及Y染色体非整倍体进行快速诊断,同时所有标本进行染色体核型分析并进行结果比较。结果 QF-PCR检出胎儿染色体非整倍体99例,其中13三体3例,18三体19例,21三体62例,X单体6例,XXX 5例,XXY 2例,XXYY合并18三体1例,三倍体(69,XXX)1例。上述染色体数目异常结果与核型分析完全一致。另外,QF-PCR结果显示1例为46,XX男性综合征,提示1例为21号染色体部分三体和3例为X染色体嵌合体。而核型分析为染色体结构异常的QF-PCR均未检出。结论 QF-PCR能快速、准确地诊断13、18、21、X及Y染色体非整倍体数目异常,且对嵌合体有一定的提示作用,可弥补核型分析结果时间过长带来的不足,最大程度缓解孕妇及其家属的焦虑。

Objective： To assess the application value of quantitative fluorescence polymerase chain reaction（QF-PCR）for rapid prenatal diagnosis of common chromosome aneuploidies. Methods：A total of 2322 samples collected between January 2015 and December 2016 were tested by QF-PCR to aim at the aneuploidies of chromosomes 21,18,13,X and Y.All samples were also assayed by karyotyping and the results of two methods were compared. Results：Ninty-nine cases were diagnosed as chromosomal aneuploidies including 3 cases of trisomy 13,19 cases of trisomy 18,62 cases of trisomy 21,6 cases of XO,5 cases of XXX,2 cases of XXY,1 case of XXYY combining with trisomy 18,1 case of triploidy.The results were all consistent with those of karyotyping. In addition,the results obtained from QF-PCR showed that one case was suspected as 46,XX male syndrome and one or three cases was suggested as partial trisomy 21 or X chromosomal mosaicism respectively.However,the structural abnormality exhibited by karyotyping was missedly diagnosed by QF-PCR. Conclusions：QF-PCR is a reliable method of rapid and accurate prental diagnosis for numberal abnormality of 13,18,21,X and Y chromosomal aneuploidies.