1674例孕妇羊水细胞G显带核型与染色体微阵列结果对比分析

Comparative analysis of G-banding karyotype and CMA results of amniotic fluid cells in 1674 pregnant women

目的:回顾性分析羊水核型和染色体微阵列分析(CMA)结果,评价两者在产前诊断中的应用价值。方法:对1674例孕中期孕妇于本院行G显带染色体核型分析和CMA的结果进行回顾性分析。结果:1674例中G带核型分析异常206例(12.31%),其中73例CMA未检出异常,多为平衡性染色体结构异常;CMA分析异常147例(8.81%),其中26例G带核型分析结果正常,多为小片段的重复或缺失。结论:染色体核型分析和CMA对检出染色体异常各具优缺点,并对检出的基因组异常具有互补性,使用核型分析联合CMA检测方式,可减少和预防新生儿出生缺陷。

Objective: To retrospectively analyze the results of amniotic karyotype analysis and chromosomal microarray analysis(CMA), and to evaluate their application value in prenatal diagnosis. Methods: The results of amniotic karyotype analysis and CMA of 1674 pregnant women during the second trimester of pregnancy were analyzed retrospectively. Results: Among 1674 women, 206(12.31%) women were abnormal in G-band karyotype analysis, of which 73 women were not detected by CMA, most of them were abnormal in balanced chromosome structure. There were 147(8.81%) women with abnormal results by CMA analysis, of which, 26 women were not confirmed by G-banding karyotype analysis, and most of them were duplication or deletion of small fragments. Conclusion: Karyotype analysis and CMA have their own advantages and disadvantages in the detection of chromosomal abnormalities, and they are complementary to each other for detecting abnormal genome. Neonatal birth defects can be reduced and prevented by the combinational detection of karyotype and CMA.