中国当代医药2023，Vol.30Issue(35)：140-143,封4,5.
染色体核型分析、染色体拷贝数变异测序、荧光定量聚合酶链技术在产前诊断联合应用的价值
Value of combined application of chromosome karyotype analysis,chro-mosome copy number variation sequencing and fluorescence quantitative polymerase chain reaction in prenatal diagnosis
摘要
Abstract
Objective To explore the value of combined application of chromosome karyotype analysis,chromosome copy number variation sequencing(CNV-seq)and quantitative fluorescence polymerase chain reaction(QF-PCR)in prenatal di-agnosis.Methods A total of 417 pregnant women with indications for prenatal diagnosis in the Prenatal Diagnosis Center,Maoming People's Hospital from January to October 2022 were selected for puncture,and karyotype analysis,CNV-seq and QF-PCR were performed at the same time.The abnormal detection rate and other special conditions of the three detection methods were compared.Results A total of 63 abnormal cases were detected by the three techniques,and the abnormal de-tection rate was 15.11％.A total of 29 cases of abnormal karyotypes were detected by chromosome karyotype analysis,and the detection rate of abnormal chromosome karyotypes was 6.95％.Among the 17 cases with numerical abnormalities,7 cas-es were 47,XN,+21,4 cases were 47,XN,+18,2 cases were 47,XXY,1 case was 45,X,and 3 cases were mosaicism.And there were 12 cases of structural abnormalities.CNV-seq detected 57 cases of abnormalities,and the detection rate of chro-mosomal abnormalities was 13.67％,including 17 cases of common aneuploidy,2 cases of large fragment CNV(≥10 M),and 38 cases of small CNV(＜10 M).There were 17 cases of definite pathogenic CNVs and 23 cases of likely pathogenic CNVs or CNVs of unknown clinical significance.CNV-seq showed normal results in 5 cases of abnormal karyotype.QF-PCR detected 17 cases of abnormalities,and the abnormal detection rate was 4.08％.There was a significant difference in the abnormal detection rate of chromosome karyotype analysis,CNV-seq and QF-PCR(P＜0.05).The detection rate of CNV-seq was higher than that of karyotype and QF-PCR,and the difference was statistically significant(P＜0.017).There was no significant difference in the abnormal detection rate between karyotype detection and QF-PCR detection(P＞0.017).Conclusion Karyotype analysis is conducive to the detection of more chromosomal structural abnormalities,and CNV-seq is conducive to the detection of more minor deletions or duplications.Chromosome karyotype analysis,CNV-seq and QF-PCR achieve complementary advantages in prenatal diagnosis,and provide accurate laboratory basis for clinical consultation,and strengthen the guidance of healthy birth.关键词
产前诊断/染色体核型分析/染色体拷贝数变异测序/荧光定量聚合酶链技术Key words
Prenatal diagnosis/Chromosome karyotype analysis/Chromosome copy number variation sequencing/Quanti-tative fluorescence polymerase chain reaction分类
医药卫生引用本文复制引用
甘梅连,莫观海,杨越红,欧海燕,陈法强,刘传勇..染色体核型分析、染色体拷贝数变异测序、荧光定量聚合酶链技术在产前诊断联合应用的价值[J].中国当代医药,2023,30(35):140-143,封4,5.基金项目
广东省茂名市科技计划项目(220414104550481). （220414104550481）
