染色体微阵列分析在自然流产遗传病因诊断中的应用
[Application of chromosomal microarray analysis in the diagnosis of genetic etiology of spontaneous abortions].
作者信息
Zhuang Jianlong, Zeng Shuhong, Jiang Yuying, Wang Yuanbai, Zhang Na
机构信息
Prenatal Diagnosis Center, Quanzhou Women and Children's Hospital, Quanzhou, Fujian 362000, China.
出版信息
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2022 Aug 10;39(8):903-906. doi: 10.3760/cma.j.cn511374-20210623-00531.
OBJECTIVE
To explore the genetic etiology of spontaneous abortions by using chromosomal microarray analysis (CMA).
METHODS
Fetal tissues derived from 106 spontaneous abortion samples were subjected to CMA assay to detect genome copy number variants (CNVs).
RESULTS
The test was successful in 94 cases (88.68%). Fifty four chromosomal abnormalities were detected, which included 44 numerical chromosomal aberrations mainly consisting of aneuploidies, triploidies and mosaicisms. Four pathogenic CNVs were detected, and two of which involved the Cri-du-chat syndrome regions. In addition, 6 chromosomal mosaicism were detected.
CONCLUSION
Numerical chromosomal aberrations and CNVs are the main causes for early spontaneous abortions. CMA can effectively reveal the genetic etiology of spontaneous abortions. Spontaneous abortions at gestational weeks 10 to 11 has the highest rate for chromosomal abnormalities, which may provide valuable information for clinical counseling.
目的
采用染色体微阵列分析（CMA）探讨自然流产的遗传病因。
方法
对106例自然流产样本的胎儿组织进行CMA检测，以检测基因组拷贝数变异（CNV）。
结果
94例（88.68%）检测成功。共检测到54例染色体异常，其中包括44例染色体数目畸变，主要为非整倍体、三倍体和嵌合体。检测到4个致病性CNV，其中2个涉及猫叫综合征区域。此外，还检测到6例染色体嵌合体。
结论
染色体数目畸变和CNV是早期自然流产的主要原因。CMA能有效揭示自然流产的遗传病因。孕10至11周自然流产的染色体异常率最高，可为临床咨询提供有价值的信息。
Zotero 插件