摘要
目的:探究染色体微阵列分析(CMA)联合染色体核型分析在唐氏综合征诊断中的应用价值。方法:回顾性收集2022年12月-2023年12月在本院行羊水穿刺的产前检查高风险孕妇122例临床资料,以胎儿游离DNA检测技术为金标准,对比染色体核型分析、CMA及CMA联合染色体核型分析检出唐氏综合征的准确率,绘制受试者工作特征(ROC)曲线分析染色体核型分析、CMA及CMA联合染色体核型分析诊断唐氏综合征效能,对比不同产前诊断高风险指征孕妇的染色体核型分析、CMA检测结果,观察染色体异常核型检测结果。结果:122例行羊水穿刺的产前检查高风险孕妇中共检出胎儿唐氏综合征14例,总检出率为11.5%;核型分析检测准确率92.6%(113/122),曲线下面积(AUC)为0.808,诊断敏感度64.3%、特异度96.3%;CMA准确率94.3%(115/122),AUC为0.843,诊断敏感度71.4%、特异度97.2%;两项联合检测准确率99.2%(121/122),AUC为0.964,诊断敏感度92.9%、特异度100.0%。核型分析与CMA联合检测的诊断准确率与AUC均高于核型分析、CMA单一检测(P<0.05)。核型分析、CMA及两项联合检测在超声胎儿颈项透明层(NT)增厚孕妇中分别检出2例、1例、2例胎儿唐氏综合征,在高龄(>35岁)孕妇中分别检出0例、1例、2例胎儿唐氏综合征,在无创产前检测(NIPT)异常孕妇中分别检出5例、5例、6例胎儿唐氏综合征,在唐氏综合征高风险孕妇中分别检出2例、2例、3例胎儿唐氏综合征;染色体核型检测异常包括数目异常7例、结构异常2例。结论:CMA联合核型分析诊断唐氏综合征准确性、敏感性最佳,对于临床产前诊断唐氏综合征具有重要参考价值。
Objective:To explore the application value of chromosome microarray analysis(CMA)combined with chromosome karyotype analysis for diagnosing Down's syndrome.Methods:The clinical data of 122 high-risk pregnant women who had undergone amniotic fluid puncture from December 2022 to December 2023 were collected retrospectively.The results of the fetal chromosome karyotype analysis was as the gold standard,the diagnostic accuracy rate of the fetal Down's syndrome was compared among the free DNA detection technology,CMA and CMA combined with the free DNA detection technology.Receiver operator characteristic(ROC)curve was drawn to analyze the efficacy of the chromosome karyotype analysis,CMA and CMA combined with karyotype analysis for diagnosing Down's syndrome.The results of the karyotype analysis and CMA were compared among the women with different high-risk prenatal diagnostic indications.The karyotype detection results of the women with fetal chromosome abnormalities were observed.Results:In 122 high-risk pregnant women who had been given routine amniotic fluid puncture for antenatal examination,there were 14 cases with the detected fetal Down's syndrome,with the detection rate of 11.5%.The accuracy,the area under the curve(AUC),the sensitivity and the specificity of the karyotype analysis for diagnosing fetal Down's syndrome were 92.6%(113/122),0.808,64.3%and 96.3%,respectively.The accuracy,the area under the curve(AUC),the sensitivity and the specificity of CMA for diagnosing fetal Down's syndrome were 94.3%(115/122),0.843,71.4%and 97.2%,respectively.The diagnostic accuracy and AUC of the combination of the karyotype analysis and CMA for diagnosing fetal Down's syndrome were significantly higher than those of the karyotype analysis or CMA alone(P<0.05).The numbers of fetal Down's syndrome diagnosed by the karyotype analysis alone,CMA alone,and the combined detection of the karyotype analysis and CMA for the women with ultrasound fetal neck thickening of the transparent layer(NT)were 2cases,1case and 2cases,respecti
作者
吕安平
谭晓兰
唐永红
LV Anping;TAN Xiaolan;TANG Yonghong(The Second People's Hospital of Yibin,Sichuan Province,644600)
出处
《中国计划生育学杂志》
2024年第9期2177-2181,共5页
Chinese Journal of Family Planning
关键词
高风险孕妇
产前诊断
唐氏综合征
染色体微阵列分析
染色体核型分析
胎儿游离DNA检测
诊断效能
High-risk pregnant women
Antenatal diagnosis
Down's syndrome
Chromosome microarray analysis
Chromosome karyotype analysis
Fetal free DNA detection
Diagnostic efficiency
