回顾性分析染色体核型分析和CMA在产前诊断中的应用价值

A retrospective analysis of the application value of chromosome karyotyping and chromosomal microarray analysis in prenatal diagnosis

摘要

目的 探讨羊水细胞染色体核型分析和染色体微阵列分析（chromosomal microarray analysis，CMA）在产前诊断中的应用价值。 方法 回顾性分析1 575例羊水染色体核型分析结果和CMA结果。 结果 ①染色体核型分析和CMA异常检出率分别为5.84%和11.68%，联合应用2种方法异常检出率为13.65%；②核型分析正常样本中，超声结构异常、超声软指标（ultrasound soft markers，USM）提示和超声未见异常病例，致病性和可能致病性拷贝数变异（copy number variations，CNVs）检出率分别为3.03%、1.54%和1.10%。 结论 在产前诊断中联合应用染色体核型分析和CMA可有效提高染色体异常检出率，尤其是超声结构异常人群。嵌合体病例需根据具体情况选择适宜的检测技术和样本。特殊微结构变异位点应当进行长期有效的病例随访。

Abstract

Objective To investigate the application value of chromosome karyotyping and chromosomal microarray analysis（CMA） in prenatal diagnosis. Methods We retrospectively analyzed the karyotyping and CMA results of 1 575 amniotic fluid samples. Results The detection rates of abnormalities by karyotyping，CMA，and their combination were 5.84%，11.68%，and 13.65%，respectively. In the samples of normal karyotypes， for cases of sonographic structural anomalies，ultrasound soft markers，and normal structure on ultrasonography，the detection rates of pathogenic/likely pathogenic copy number variations were 3.03%，1.54%，and 1.10%，respectively. Conclusion Prenatal abnormality detection rate can be improved effectively by combining karyotyping and CMA，especially for cases of sonographic structural anomalies. The detection of chimerism should select appropriate technologies and samples. Special microstructural variations should be monitored for a long term.

关键词

染色体核型分析 / 染色体微阵列分析 / 产前诊断 / 基因组拷贝数变异

Key words

chromosomal karyotyping / chromosomal microarray analysis / prenatal diagnosis / copy number variation

基金资助

重庆市科技局面上资助项目(cstc2016shmszx130026)