染色体微阵列分析技术联合染色体核型分析产前紧急诊断唐氏综合征价值  

Value of Chromosomal Microarray Analysis Combined with Karyotyping for Prenatal Emergency Diagnosis of Down Syndrome

作　　者：陈秀慧 CHEN Xiuhui(Department of Medical Genetics,Linyi Maternal and Child Health Hospital,Linyi 276000,Shandong,China)

机构地区：[1]临沂市妇幼保健院医学遗传科,山东临沂276000

出　　处：《中华灾害救援医学》2024年第12期1456-1459,共4页Chinese Journal of Disaster Medicine

摘　　要：目的探索染色体微阵列分析(CMA)技术联合染色体核型分析在产前紧急诊断唐氏综合征中的临床价值。方法选择2021年1月到2024年1月来临沂市妇幼保健院进行羊水穿刺的87例产前高风险孕妇为研究对象。以胎儿游离DNA检测结果为诊断金标准,评估CMA技术、染色体核型分析技术、CMA技术联合染色体核型分析在产前诊断唐氏综合征与胎儿游离DNA检测技术的符合情况,采用受试者工作特征曲线(ROC)对产前诊断唐氏综合征的敏感度、特异度、准确度、曲线下面积(AUC)进行比较,并分析在不同产前诊断指征中检测出唐氏综合征的情况。结果87例孕妇中,经胎儿游离DNA检测技术共诊断出10例唐氏综合征,检出率为11.49%。CMA技术诊断的灵敏度为70.00%、特异度为97.40%、准确度为91.95%、AUC为0.845。染色体核型分析技术诊断的灵敏度为60.00%、特异度为96.10%、准确度为91.95%、AUC为0.807。CMA技术联合染色体核型分析诊断的灵敏度为90.00%、特异度为100.00%、准确度为98.85%、AUC为0.966。CMA技术、染色体核型分析及CMA联合核型分析在不同产前诊断指征中检测出唐氏综合征的情况,NT增厚患者中CMA技术检出1例,其他各检出2例;在产妇高龄患者中各检出1例;在唐氏筛查高风险患者中各检出2例,在无创基因异常患者中各检出5例。结论CMA技术联合染色体核型分析对产前紧急唐氏综合征的诊断效能较高。Objective To explore the clinical value of combining Chromosomal Microarray Analysis(CMA)with Chromosome Karyotype Analysis in the prenatal emergency diagnosis of Down syndrome.Methods A total of 87 high-risk pregnant women who underwent amniocentesis at Linyi Maternal and Child Health Hospital from January 2021 to January 2024 were selected as study subjects.Fetal free DNA testing results were used as the gold standard for diagnosis.The study aimed to evaluate the concordance between CMA(Chromosomal Microarray Analysis),chromosomal karyotype analysis,and the combination of CMA and chromosomal karyotype analysis in prenatal diagnosis of Down syndrome compared to fetal free DNA testing.The sensitivity,specificity,accuracy,and area under the curve(AUC)for prenatal diagnosis of Down syndrome were compared using receiver operating characteristic(ROC)curves.Additionally,the detection of Down syndrome in different prenatal diagnostic indications was analyzed.Results Among the 87 pregnant women,fetal free DNA testing diagnosed 10 cases of Down syndrome,with a detection rate of 11.49%.The sensitivity,specificity,accuracy,and AUC(area under the curve)of CMA(Chromosomal Microarray Analysis)were 70.00%,97.40%,91.95%,and 0.845,respectively.The sensitivity,specificity,accuracy,and AUC of chromosomal karyotype analysis were 60.00%,96.10%,91.95%,and 0.807,respectively.When combining CMA and chromosomal karyotype analysis,the sensitivity,specificity,accuracy,and AUC were 90.00%,100.00%,98.85%,and 0.966,respectively.In terms of detecting Down syndrome across different prenatal diagnostic indications,CMA detected 1 case in patients with increased nuchal translucency(NT),while other methods detected 2 cases each.In advanced maternal age patients,each method detected 1 case.In patients with high-risk Down syndrome screening,each method detected 2 cases,and in patients with non-invasive genetic abnormalities,each method detected 5 cases.Conclusion The combination of CMA and chromosome karyotype analysis demonstrates high diagnostic e

关 键 词：染色体微阵列分析 染色体核型分析 胎儿游离DNA检测 产前 唐氏综合征 诊断 

分 类 号：R0[医药卫生]