| ObjectiveTo investigate the application value of Chromosomal Microarray Analysis (CMA) inspontaneous abortion and stillbirth.MethodsAffymetrix Cytoscan750K Array and Agilent Custom designed CGH Microarray4x44K chip were performed to detect for genome-wide copy number variations (CNVs)in43fetuses with spontaneous abortion and stillbirth. All identified CNVs wereanalyzed with the references from database of Genomic variant (DGV), database ofDECIPHER, ISCA and OMIM, as well as comprehensive literature reviews to confirmif the CNVs found in these samples were pathogenic. Parental DNA from two of themwas analyzed by the same kinds of array to find the origin of the CNVs.Combinedkaryotype was performed in27of43specimens after culture in vitro.ResultsAll of43specimens could be successfully detected.The success rate of detection was100%. We identified clinically significant chromosomal aberrations in74.4%of testedfetuses (32/43). Among them,26aneuploids and6abnormal CNVs were identified.19of the27specimens could be successfully cultured and karyotype detected,while8specimens failed to be cultured. The success rate of detection was70.4%（19/27）.Among them,13aneuploids were identified. The rate of chromosomal aberrations was 48.1%(13/27).The significant difference was found by comparing the results of CMAwith those of karyotype in the27specimens（P<0.05）. The success rate of detection ofCMA was higher than that of karyotype. Identical results in combined CMA andkaryotype were obtained in96.3%(26/27).47，XY，+21was found by CMA test in aspontaneous abortion sample while karyotype revealed normal（46，XX).ConclusionThe main causes of spontaneous abortion and stillbirth are chromosome aberrations.Chromosomal microarray analysis is a fast and effective method to detect the samplesfrom spontaneous abortion and stillbirth, which are difficult to be cultured forkaryotyping analysis.Chromosomal microarray analysis is a better genetic diagnostictool for spontaneous abortion and stillbirth. |
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