染色体核型分析联合染色体微阵列分析对于产前诊断的价值

目的评估染色体核型分析联合染色体微阵列分析(chromosomal microarray analysis,CMA)对于产前诊断的价值。方法对546例孕妇的羊水同时进行G显带染色体核型分析和CMA检测。结果共检出82例异常,其中43例两种方法的检测结果一致,包括21三体14例、18三体6例、13三体1例、性染色体数目异常14例、染色体缺失4例、染色体重复3例以及嵌合体1例。核型分析漏检15例,包括染色体微缺失9例和染色体微重复6例。CMA漏检16例,包括染色体易位15例,性染色体嵌合1例。有7例核型分析与CMA检测结果不一致。1例核型分析为标记染色体,经CMA检测为9号染色体p13.1p21.1重复。结论染色体核型分析联合CMA技术可以提高染色体异常的检出率,对产前诊断具有重要的意义。

The value of combined use of chromosomal karyotyping and chromosome microarray analysis for prenatal diagnosis

Objective To assess the value of combined chromosomal karyotyping and chromosomal microarray analysis(CMA)for prenatal diagnosis.Methods G-banding karyotyping and CMA were simultaneously performed on 546 women who were subjected to amniocentesis during middle pregnancy.Results In total 82 cases were detected with chromosomal abnormalities.The two methods were consistent in 43 cases,which included 14 trisomy 21,6 trisomy 18,1 trisomy 13,14 sex chromosomal aneuploidies,4 chromosomal deletions,3 chromosomal duplications and 1 sex chromosomal mosaicism.Fifteen fetuses with chromosomal abnormalities detected by CMA were missed by karyotyping analysis,which included 9 microdeletions and 6 microduplications.Sixteen fetuses with chromosomal abnormalities detected by karyotyping analysis were missed by CMA,which included 15 chromosomal translocations and 1 sex chromosomal mosaicism.In 7 cases,the results of karyotyping analysis and CMA were inconsistent.One supernumerary marker chromosome detected by karyotyping analysis was verified by CMA as 9p13.1p21.1 duplication.Conclusion Combined chromosomal karyotyping and CMA can significantly improve the detection rate for chromosomal abnormalities,which has a great value for prenatal diagnosis.