荧光定量聚合酶链反应技术在快速产前诊断常见染色体非整倍体中的临床应用价值  

Clinical application value of quantitative fluorescence polymeric chain reaction in rapid prenatal diagnosis of common chromosome aneuploidy

作　　者：刘萍 黄俊高 罗红玉 LIU Ping;HUANG Jun-gao;LUO Hong-yu(Prenatal Diagnosis Department of Ganzhou Maternal and Child Health Hospital,Ganzhou,Jiangxi 341000,China;不详)

机构地区：[1]赣州市妇幼保健院产前诊断科,江西赣州341000 [2]赣州市妇幼保健院优生遗传实验室,江西赣州341000

出　　处：《中国妇幼保健》2025年第5期919-922,共4页Maternal and Child Health Care of China

基　　金：江西省卫生健康委科技计划项目(202140691)。

摘　　要：目的 探讨荧光定量聚合酶链反应(QF-PCR)技术在快速产前诊断常见染色体非整倍体中的临床应用价值,为染色体非整倍体的诊断提供参考。方法 选取2020年8月-2024年1月在赣州市妇幼保健院进行产前诊断的645例高危孕妇,进行QF-PCR技术检测和染色体核型分析,比较两种方法的检测报告时间与结果。以染色体核型分析结果为金标准,统计QF-PCR技术的诊断灵敏度、特异度、准确率,并比较不同产前诊断指征诊断染色体非整倍体的阳性率。结果 在645例孕妇中,QF-PCR技术检测报告时间为(2.53±0.35)d,染色体核型分析报告时间为(22.14±2.29)d, QF-PCR技术检测报告时间明显短于染色体核型分析,差异有统计学意义(t=214.985,P<0.05)。QF-PCR技术检测出染色体非整倍体31例,阳性率为4.81%,其中21-三体综合征18例(占58.06%),18-三体综合征4例(占12.90%),性染色体异常9例(占29.03%),包括47,XXX 2例,47,XXY 5例,45,X 1例,嵌合体45,X[22]/46,XY[26] 1例,检测结果与染色体核型分析结果一致。以染色体核型分析结果为金标准,QF-PCR技术诊断常见染色体非整倍体的灵敏度、特异度、准确率均为100.00%。单项指征中检出染色体非整倍体阳性率前3位分别为:无创产前检查(NIPT)异常组(26.47%)>夫妇一方染色体异常组(11.11%)>胎儿超声异常组(6.59%);两项指征检出染色体非整倍体阳性率(21.74%)明显高于单项指征(4.18%),差异有统计学意义(χ^(2)=14.947,P<0.05)。对31例染色体非整倍体孕妇进行随访,其中1例染色体核型分析结果为47,XXX,2例染色体核型分析结果为47,XXY的孕妇选择继续妊娠,其余孕妇均选择终止妊娠。结论 QF-PCR技术可在产前快速诊断常见染色体非整倍体,且产前诊断指征中以NIPT异常和夫妇一方染色体异常的常见染色体非整倍体检出率最高。Objective To explore the clinical application value of quantitative fluorescence polymeric chain reaction(QF-PCR)in rapid prenatal diagnosis of common chromosome aneuploidy,provide a reference for diagnosis of chromosome aneuploidy.Methods A total of 645 high-risk pregnant women who received prenatal diagnosis in Ganzhou Maternal and Child Health Hospital from August 2020 to January 2024 were selected,then they were detected by QF-PCR and chromosomal karyotype analysis.The detection time and results of the two methods were compared.Using the results of chromosomal karyotype analysis as the gold standard,the diagnostic sensitivity,specificity,and accurate rate of QF-PCR were calculated,and the positive rates of different prenatal diagnostic indicators for chromosome aneuploidy were compared.Results For 645 pregnant women,the detection time of QF-PCR was(2.53±0.35)days,the detection time of chromosomal karyotype analysis was(22.14±2.29)days,the detection time of QF-PCR was shorter than that of chromosomal karyotype,there was statistically significant difference between the two methods(t=214.985,P<0.05).The detection positive time of QF-PCR for chromosome aneuploidy was 4.81%(31 cases),including eighteen cases of trisomy 21 syndrome(58.06%),four cases of trisomy 18 syndrome(12.90%),nine cases of sex chromosome abnormality(29.03%).Among nine cases of sex chromosome abnormality,there were two cases with 47,XXX,five cases with 47,XXY,one case with 45,X,one case with chimera 45,X[22]/46,XY[26],the detection results were consistent with chromosomal karyotype analysis results.Using chromosomal karyotype analysis results as the gold standard,the sensitivity,specificity,and accurate rate of QF-PCR for diagnosing common chromosome aneuploidy were all 100.00%.The top three positive rates of chromosome aneuploidy among the single indications:noninvasive prenatal testing(NIPT)abnormality group(26.47%)>parental chromosome abnormality group(11.11%)>fetal ultrasound abnormality group(6.59%).The positive rate of chromosome aneupl

关 键 词：荧光定量聚合酶链反应技术 染色体核型分析 产前诊断 染色体非整倍体 

分 类 号：R715.5[医药卫生—妇产科学]