CMA、CNV-seq诊断引产胎儿DNA异常及病因效果  

Application efficacy of chromosome microarray technology and low depth whole genome sequencing technology for diagnosing fetal DNA abnormalities and its etiology

作　　者：张荣[1] 张蕊 蔡敏[1] 欧武 ZHANG Rong;ZHANG Rui;CAI Min;OU Wu(Huizhou Second Women and Children's Health Care Hospital,Huizhou Guangdong Province,516008)

机构地区：[1]广东省惠州市第二妇幼保健院,516008

出　　处：《中国计划生育学杂志》2024年第11期2645-2648,共4页Chinese Journal of Family Planning

基　　金：广东省医学科学技术研究基金(B2020060)。

摘　　要：目的:探讨染色体微阵列芯片技术(CMA)、低深度全基因组测序技术(CNV-seq)对引产胎儿DNA异常的诊断价值及病因检出情况。方法:将2021年1月-2023年12月于本院进行引产的150例孕妇作为研究对象,以产前无创基因筛查(NIPT)技术检测结果作为引产胎儿DNA结果的金标准,对引产胎儿行CMA、CNV-seq检测。比较CMA、CNV-seq检测结果与金标准的符合情况;受试者特征曲线(ROC)分析CMA、CNV-seq检测对引产胎儿DNA异常的诊断价值;对比CMA、CNV-seq检测对引产胎儿DNA异常病因检测结果。结果:引产胎儿DNA异常的阳性检出率CNV-seq检测(85.9%)高于CMA检测(73.7%);CNV-seq检测诊断引产胎儿DNA异常的曲线下面积(0.870)高于CMA检测(0.761),CNV-seq检测对引产胎儿DNA异常病因的检出情况(85.9%)高于CMA检测(73.7%)(均P<0.05)。结论:CMA、CNV-seq对引产胎儿DNA异常及其病因均有较高检出率,且CNV-seq检测诊断效能更高,可为产前诊断胎儿DNA异常提供参考。Objective:To investigate the diagnostic value of chromosome microarray technology(CMA)and low depth whole genome sequencing technology(CNV-seq)for fetal DNA abnormalities,and to study the etiology detections.Methods:150 pregnant women who underwent labor induction in the hospital from January 2021 to December 2023 were selected as the research objects.The results of the prenatal noninvasive genetic screening(NIPT)technology of the fetal DNA were used as the gold standard.CMA and CNV-seq were detected in all the fetuses after labor induction.The results of these fetuses were compared between CMA and CNV-seq.Receiver characteristic(ROC)curve was used to analyze the diagnostic values of CMA and CNV-seq for the fetal DNA abnormalities.The results of the etiology detection of the fetuses with DNA abnormalities were also compared between CMA and CNV-seq.Results:The positive detection rate of the fetuses with DNA abnormalities by CNV-seq was 85.9%,and which was significantly higher than that(73.7%)by CMA.The area under the curve(AUC)of CNV-seq for diagnosing the fetal DNA abnormalities was 0.870,which was significantly higher than that(0.761)of CMA.The detection rate of the etiology of the fetuses with DNA abnormalities by CNV-seq was 85.9%,and which was significantly higher than that(73.7%)by CMA(all P<0.05).Conclusion:Both CMA and CNV-seq have high detection rates for the fetal DNA abnormalities and also have high detection rates of the etiology of the fetuses with DNA abnormalities,and CNV-seq has the higher diagnostic efficiency than that of CMA,and both CMA and CNV-seq can provide the references for the prenatal diagnosis of the fetal DNA abnormalities.

关 键 词：产前诊断 胎儿DNA异常 染色体微阵列芯片技术 低深度全基因组测序技术 阳性检出 病因诊断 

分 类 号：R714.5[医药卫生—妇产科学]