染色体微阵列芯片分析技术在产前诊断中的应用  

Application of chromosomal microarray analysis in prenatal diagnosis

作　　者：吴莉[1] 邓璐莎[1] 朱晓丹[1] 陈敏[2] 钟进[1] 李红霞[1] 史淑琼[1] 

机构地区：[1]南方医科大学附属佛山市妇幼保健院产前诊断中心,广东佛山528000 [2]广州医科大学附属第三医院胎儿医学与产前诊断中心,广东广州510000

出　　处：《中国妇幼保健》2018年第1期139-141,共3页Maternal and Child Health Care of China

基　　金：广东省卫计委科研项目(B2015101);佛山市科技局项目(2015A130397)

摘　　要：目的探讨染色体微阵列芯片分析(CMA)技术在产前诊断中的应用价值。方法选择2015年1月-2016年8月在南方医科大学附属佛山市妇幼保健院产前诊断中心就诊的经超声检测为胎儿畸形的孕妇为研究对象,对其中100例自愿进行产前诊断的孕妇进行常规染色体核型分析及CMA检测结果 100例结构异常的胎儿中,染色体拷贝数异常13例(13.0%),其中9例CMA及染色体核型分析均检测出异常;染色体核型分析正常的90例病例中,有4例CMA检测出致病基因(4.4%);CMA检测为良性染色体拷贝数变异(CNV)的84例病例中,有1例染色体核型分析为平衡易位。结论 CMA检测在超声结构异常的胎儿的遗传学分析中具有重要的应用价值。但CMA分析技术本身有局限性如不能检测平衡易位,目前尚不能完全替代染色体核型分析。Objective To explore the application value of chromosomal microarry analysis（ CMA） in prenatal diagnosis.Methods The pregnant women diagnosed as fetal malformations by ultrasonography in Prenatal Diagnosis Center of Foshan Women and Children Hospital,Affiliated to Southern Medical University from January 2015 to August 2016 were selected,among which 100 pregnant women receiving prenatal diagnosis voluntarily underwent routine chromosomal karyotyping and CMA. Results Among 100 fetuses with structural abnormalities,13 cases（ 13. 0%） were diagnosed as chromosomal numerical abnormalities,including 9 cases with abnormal results of CMA and chromosome karyotyping. Among 90 cases with normal results of chromosomal karyotyping,4 cases（ 4. 4%） were found with pathogenic genes by CMA. Among 84 cases with benign chromosomal numerical abnormalities detected by CMA,only one case was diagnosed as balanced translocation by chromosomal karyotyping. Conclusion CMA has important value in genetic analysis of fetuses with structural abnormalities detected by ultrasonogralhy,but CMA has limitations,which can＇t detect balanced translocation,so CMA can not completely replace chromosomal karyotyping.

关 键 词：产前诊断 胎儿畸形 染色体微阵列分析 染色体核型分析 

分 类 号：R714.53[医药卫生—妇产科学]