CMA和核型分析在胎儿染色体异常诊断中的临床价值

Clinical Value of CMA and Karyotype Analysis in Diagnosis of Fetal Chromosomal Abnormalities

目的回顾性分析胎儿染色体微阵列分析(chromosomal microarray analysis,CMA)和核型分析的检测结果,评价两者诊断胎儿染色体异常的临床价值。方法选取347例因超声异常、高龄、唐筛高风险及无创结果异常等选择有创CMA和核型分析的胎儿作为研究对象,对两者染色体结果进行分析以明确其临床价值。结果 CMA,核型分析的染色体异常检出率分别为10.95%和9.22%,相符率89.63%,两者染色体异常检出率差异无统计学意义(P=0.362);CMA能敏感地检出染色体微重复和微缺失,核型分析能更好地检出染色体平衡易位。结论核型分析和CMA在染色体异常的检出中具有互补性,临床医生应合理地将CMA结合核型分析应用于有创产前诊断,以提高染色体异常检出率,减少新生儿出生缺陷。

Objective To retrospective analyze the results of chromosome microarray（CMA） and karyotype in fetus,and eval- uate their clinical value in diagnosing fetal chromosomal abnormalities. Methods CMA and karyotype analysis were per- formed in 347 invasive fetus samples due to abnormal ultrasound,elderly pregnancy,high risk of Down＇s screening and ab- normal non-invasive results. CMA and karyotype results were further studied to clarify their diagnostic value. Results The chromosomal abnormality rates detected by CMA and karyotype analysis were 10.95 % and 9.22%, respectively, the coinci- dence rate was 89. 630//00 ,and there was no statistical difference （P=0. 362）. CMA could detect microduplication and mi- crodeletion of chromosomes sensitively, and karyotype analysis could better detect chromosome balance translocation. Con- clusion Karyotype analysis and CMA complementarity in the detection of chromosomal abnormalities,clinicians should rea- sonably use CMA and karyotype analysis for invasive prenatal diagnosis to increase the detection rate of chromosomal abnor- malities and reduce neonatal birth defects effectively.