摘要
目的探讨自然流产与染色体异常的关系以及染色体微阵列(chromosomalmicroarrayanalysis,CMA)技术在自然流产病因诊断中的应用价值。方法收集自然流产样本440例,对其进行CMA检测。结果在440例流产样本中,成功检测417例,成功率为94.7%。染色体异常的样本为209例(50.1%),其中染色体数目异常129例(61.7%),结构异常40例(19.1%),嵌合体38例(18.1%),纯合子区域2例(1.0%)。结论相较于染色体核型分析,CMA可为流产物检测提供更全面的信息,为患者的病因诊断和再生育风险评估提供指导。
Objective To explore the relationship between spontaneous miscarriage and chromosomal aberrations identifiable with chromosomal microarray analysis (CMA). Methods A total of 440 product-of- conception were collected for the CMA testing. Results Four hundred and seventeen of 440 specimens (94. 7%) were successfully detected, among which 209 (50.1%) were chromosomal abnormalities. One hundred and twenty-nine (61.7 %) of the 209 specimens were numerical chromosomal abnormalities, 40 specimens (19.1%) were structural anomalies, 38 specimens (18. 1%) were mosaicisms, and 2 specimens (1.0%) showed regions of homozygosity. Conclusion CMA analysis of products-of-conception specimens can yield a higher diagnostic rate than conventional karyotyping. The identification of the cause of spontaneous miscarriage can facilitate estimation of recurrence risks for future pregnancies.
出处
《中华医学遗传学杂志》
CAS
CSCD
北大核心
2016年第4期442-446,共5页
Chinese Journal of Medical Genetics
关键词
自然流产
染色体核型分析
染色体微阵列
染色体数目异常
染色体结构异常
嵌合体
染色体纯合区域
Spontaneous miscarriage
Karyotyping
Chromosomal microarray analysis
Numerical chromosomal abnormalities
Structural chromosomal abnormalities
Mosaicism
Regions ofhomozygosity