Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics · 2022
[Application of chromosomal microarray analysis in the diagnosis of genetic etiology of spontaneous abortions].
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Zhuang Jianlong, Zeng Shuhong, Jiang Yuying, Wang Yuanbai, Zhang Na
Аннотация
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+6 has the highest rate for chromosomal abnormalities, which may provide valuable information for clinical counseling.
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+6 has the highest rate for chromosomal abnormalities, which may provide valuable information for clinical counseling.