摘要 目的探讨染色体微阵列分析(CMA)联合染色体核型分析对胎儿结构异常的筛检效力影响。方法选择2018年6月至2019年10月于中国人民解放军联勤保障部队第901医院进行产前超声诊断后提示胎儿结构异常、有不良妊娠史或夫妻双方有一方有染色体异常的孕妇131例为研究对象。按照检查方式不同分为CMA组、染色体核型分析组及联合组。观察不同检查方式的染色体异常情况,以及不同超声诊断指征的CMA组和染色体核型分析组染色体异常情况。结果染色体核型分析组共发现染色体异常26例(19.85%)。CMA组共检出29例(22.14%)致病性拷贝数变异(CNVs),与染色体核型分析组相比,检测出了除1例平衡易位、1例低水平嵌合体之外的所有染色体异常胎儿。联合组检出的总染色体异常率23.66%(31/131),其中染色体核型分析结果显示染色体正常的105例胎儿,有5例由CMA检出为致病性CNVs。3组间染色体异常率两两比较差异均无统计学意义(P>0.05)。不同超声诊断指征胎儿CMA与染色体核型分析阳性检出率差异均无统计学意义(P>0.05)。结论CMA联合传统染色体核型分析能提高超声提示胎儿结构异常中的染色体异常检出率,有助于临床对结构异常胎儿遗传病、畸形、残疾发生率进行评估。 Objective To investigate the effect of chromosome microarray analysis(CMA)combined with chromosome karyotype analysis on the screening efficacy of fetal structural abnormalities.Methods A total of 131 pregnant women with fetal structure abnormality,adverse pregnancy history or chromosome abnormality in one spouse of husband and wife prompted by prenatal ultrasound diagnosis in 901 hospital of Integrated Logistic Guarantee Force from June 2018 to October 2019 were enrolled as the study subjects,and were divided into the CMA group,karyotype analysis group and combined group according to different examination methods.The fetal chromosomal abnormality situation by different detection modes,and chromosomal abnormality situation in the CMA group and karyotype analysis group with different ultrasound diagnosis indications were observed.Results A total of 26 cases(19.85%)of chromosomal abnormalities were found in the karyotype analysis group.In the CMA group,29 cases(22.14%)of pathogenic copy number variations(CNVs)were observed,and compared with the karyotype analysis group,all fetuses with chromosome abnormality were detected out excepting 1 case of balanced translocation and 1 case of low level chimeras.The chromosomal abnormality rate detected in the combined group was 23.66%(31/131),in which the karyotype analysis results showed that among 105 cases of normal chromosome,5 cases were pathogenic CNVs detected by CMA.The pairwise comparison in chromosome abnormality rate among three groups had no statistical difference(P>0.05).The difference in the positive detection rate between the CMA detection and karyotype analysis among the fetuses with different ultrasound examination indications had no statistical significance(P>0.05).Conclusion CMA combined with traditional karyotype analysis can improve the detection rate of chromosomal abnormalities in fetal structural abnormalities indicated by ultrasound,which is conducive to evaluate the incidence rate of fetal genetic disease,deformity and disability in structural abnorm
出处 《重庆医学》 CAS 2021年第7期1166-1169,共4页 Chongqing medicine
关键词 染色体微阵列分析 染色体核型分析 胎儿结构异常 产前筛查 染色体异常 chromosome microarray analysis chromosome karyotype analysis fetal structural abnormality prenatal screen chromosome abnormalities
