CAJ | 학술논문

目的评估定量荧光PCR(quantitative fluorescent PCR,QF-PCR)技术在胎儿常见染色体非整倍体产前诊断中的应用.方法收集孕18～22周羊水标本2436份,针对21、18、13、性染色体上共32个多态性短串联重复序列(short tandem repeat,STR)位点进行多重QF-PCR扩增及毛细管电泳,所有标本同时进行染色体核型分析.结果 QF-PCR检出胎儿染色体非整倍体76例(3.12％).其中21-三体51例,18-三体12例,13-三体2例,三倍体1例,上述结果与核型分析完全一致;QF-PCR提示性染色体数目异常10例,其中9例与核型分析结果一致,1例经核型分析证实为X染色体结构异常.此外,核型分析检出染色体结构异常24例(0.99％),仅1例QF-PCR显示部分STR位点异常,提示可能存在染色体结构异常;核型分析另检出染色体数目异常嵌合体2例(0.08％),仅1例QF-PCR显示临界值,提示可能为嵌合体.结论 QF-PCR可以准确的诊断21、18、13及性染色体的非整倍体改变,可以用于胎儿常见染色体非整倍体的产前快速筛查.
목적 평고정량형광PCR(quantitative fluorescent PCR,QF-PCR)기술재태인상견염색체비정배체산전진단중적응용.방법 수집잉18～22주양수표본2436빈,침대21、18、13、성염색체상공32개다태성단천련중복서렬(short tandem repeat,STR)위점진행다중QF-PCR확증급모세관전영,소유표본동시진행염색체핵형분석.결과 QF-PCR검출태인염색체비정배체76례(3.12％).기중21-삼체51례,18-삼체12례,13-삼체2례,삼배체1례,상술결과여핵형분석완전일치;QF-PCR제시성염색체수목이상10례,기중9례여핵형분석결과일치,1례경핵형분석증실위X염색체결구이상.차외,핵형분석검출염색체결구이상24례(0.99％),부1례QF-PCR현시부분STR위점이상,제시가능존재염색체결구이상;핵형분석령검출염색체수목이상감합체2례(0.08％),부1례QF-PCR현시림계치,제시가능위감합체.결론 QF-PCR가이준학적진단21、18、13급성염색체적비정배체개변,가이용우태인상견염색체비정배체적산전쾌속사사.
Objective To assess the value of quantitative fluorescence PCR (QF-PCR) for the prenatal diagnosis of common fetal chromosomal aneuploidies.Methods A total of 2436 amniotic fluid samples were collected at 18 to 22 gestational weeks.Multiplex QF-PCR was performed with fluorescencelabeled primers specific for 32 polymorphic short tandem repeat (STR) sites on chromosomes 21, 18, 13, X and Y.The PCR products were assayed by capillary electrophoresis.All samples were also assayed by karyotyping.Results Seventy-six (3.12％) samples were diagnosed as chromosomal aneuploidies by QF-PCR, among which 51 were trisomy 21, 12 were trisomy 18, 2 were trisomy 13, and 1 was triploidy.The results were all consistent with those of karyotyping.Ten samples were suspected as sex chromosomal aneuploidies, among which 9 were confirmed, except for 1 case with X structural abnormality.In addition,karyotyping has diagnosed 24 (0.99％) cases of structural abnormalities, only one of which was suspected by QF-PCR with partial abnormal STR results.Two (0.08％) samples were found to be mosaic by karyotyping, one of which was suggested by QF-PCR with cut-off ratios of STR markers.Conclusion QF-PCR is reliable for the diagnosis of numerical abnormalities of chromosomes 21, 18, 13, X and Y.The method can serve as an effective technique for rapid prenatal screening of common chromosome aneuploidies in fetus.