染色体微阵列基因芯片分析在超声异常胎儿遗传学诊断中的应用研究  

Study on the application of chromosomal microarray analysis in genetic diagnosis of fetal ultrasound abnormalities

作　　者：王雪 鲁北 闫磊 张海燕 亓亚革 赵媛 齐亚茹 WANG Xue;LU Bei;YAN Lei;ZHANG Hai-yan;QI Ya-ge;ZHAO Yuan;QI Ya-ru(Prenatal Diagnosis Department,Dezhou Maternity and Child-care Hospital,Dezhou,Shandong 253000,China)

机构地区：[1]德州市妇幼保健院产前诊断科,山东德州253000

出　　处：《中国妇幼保健》2024年第24期4955-4958,共4页Maternal and Child Health Care of China

基　　金：山东省医药卫生科技发展计划项目(202105031081)。

摘　　要：目的通过染色体微阵列基因芯片分析(CMA)对产前超声发现异常的胎儿进行遗传学诊断,探讨染色体异常与胎儿超声异常的相关性。方法分析2020年1月—2023年11月因超声异常在德州市妇幼保健院进行染色体核型分析和CMA检测的334例孕妇资料,根据检测方法、超声异常类型、超声异常项数进行分组,统计对比各组染色体异常检出率。结果334例超声异常胎儿样本中,染色体核型异常检出率为11.4%(38/334),CMA异常检出率为21.6%(72/334),两组比较差异有统计学意义(χ^(2)=11.939,P<0.05)。超声软指标异常组、结构异常组、混合组胎儿染色体异常检出率分别为17.2%(42/244)、28.1%(18/64)、46.2%(12/26),3组比较差异有统计学意义(P<0.05)。单项软指标异常组和多项软指标异常组染色体异常检出率分别为14.9%、23.8%。单项结构异常组和多项结构异常组染色体异常检出率分别为26.3%、42.9%,差异无统计学意义(χ^(2)=7.292,P>0.05)。结论与传统染色体核型分析技术比较,CMA可额外检出5.4%异常,包括微小拷贝数变异及杂合性缺失,有助于综合评估妊娠风险,为优生指导及遗传咨询提供证据。Objective To carry out genetic diagnosis of fetal ultrasound abnormalities by chromosomal microarray gene chip analysis(CMA),explore the correlations between chromosomal abnormalities and fetal ultrasound abnormalities.Methods From January 2020 to November 2023,the data of 334 pregnant women who had experienced chromosomal karyotype analysis and CMA because of fetal ultrasound abnormalities were analyzed.The detection rates of chromosomal abnormalities were statistically compared according to the detection methods,ultrasonic abnormality types,and numbers of ultrasonic abnormalities.Results Among 334 fetal samples with ultrasound abnormalities,the detection rate of chromosomal karyotype abnormality was 11.4%(38/334),and the detection rate of CMA abnormality was 21.6%(72/334),there was statistically significant difference between the two methods(χ^(2)=11.939,P<0.05).The detection rates of chromosomal abnormalities were 17.2%(42/244),28.1%(18/64),and 46.2%(12/26)in soft index abnormal group,structural abnormal group,and mixed group,respectively,and the difference among the three groups was statistically significant(P<0.05).The detection rates of chromosomal abnormalities in single soft index abnormality group and multiple soft index abnormality group were 14.9%and 23.8%,respectively.The detection rates of chromosomal abnormalities in single structural abnormality group and multiple structural abnormality group were 26.3%and 42.9%,respectively,there was no statistically significant difference(χ^(2)=7.292,P>0.05).Conclusion Compared with traditional chromosome karyotype analysis,CMA can detect 5.4%additional chromosomal abnormalities,including minor copy number variation and loss of heterozygosity,which is helpful for comprehensive evaluation of pregnancy risk and provides evidence for eugenic guidance and genetic counseling.

关 键 词：染色体微阵列基因芯片分析 胎儿超声异常 拷贝数变异 杂合性缺失 

分 类 号：R715.5[医药卫生—妇产科学]