染色体微阵列技术非胎儿染色体核型分析的唯一解决之道

摘要

染色体核型分析在产前诊断中的应用由来已久，检测成本相对低廉，但逐渐难以满足临床效率质量要求。新兴染色体微阵列技术（ CMA ）能弥补核型分析缺点，在提高检出率的同时，可能解决上述矛盾。但若充分发挥CMA价值，仍需合理结合传统不同分辨率的核型分析技术。（中华检验医学杂志，2016，39：404－406）%Karyotype analysis has been considered as the key tool for prenatal diagnosis .Although it is cost-effective, it has great challenge to meet the growing demand of efficiency and quality in clinical settings.To improve the effeiciency and detection quality , cytogenomic microarray analysis ( CMA ) is developed, with high detection rate.However, traditional karyotype analysis at different resolution should also be used as the reference for CMA .