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首页> 外文期刊>Molecular cytogenetics >Chromosomal abnormalities and copy number variations in fetal ventricular septal defects
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Chromosomal abnormalities and copy number variations in fetal ventricular septal defects

机译：胎儿间隔缺损的染色体异常和拷贝数变异

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This study aimed to evaluate the applicability of chromosomal microarray analysis (CMA), rather than traditional chromosome analysis, in prenatal diagnosis of ventricular septal defects (VSDs) for superior prenatal genetic counseling and to reveal a potential correlation between submicroscopic chromosomal aberrations and VSDs. Among the 151 VSD cases, 79 (52.3%) had isolated defects and 72 (47.7%) had additional ultrasound anomalies. Karyotype analysis identified 16 chromosomal abnormalities. Besides the 14 cases of chromosome abnormalities consistent with karyotype analysis, CMA identified an additional 20 cases (13.2%) of abnormal copy number variations (CNVs), of which 13 were pathogenetic CNVs, 5 were variations of uncertain clinical significance (VOUS) and 2 were benign CNVs. The detection rate of pathogenic CNVs in non-isolated-VSDs was significantly higher than that in isolated-VSDs (36.1% (26/72) vs. 1.3% (1/79), p?=?0.001). We also found that CMA results indicating pathogenic abnormalities affected the rate of pregnancy termination. This study showed that CMA combined with cytogenetic analysis is particularly effective in identifying CNVs in fetuses with VSDs and can have an effect on obstetrical outcomes. The elucidation of the etiology of VSDs suggested that gene mutations or other factors may be implicated.
机译：本研究旨在评估染色体微阵列分析（CMA），而不是传统染色体分析的适用性，对高级产前遗传咨询的心室间隔缺损（VSDS）的产前诊断，揭示子显微染色体畸变和VSDS之间的潜在相关性。在151例VSD病例中，79例（52.3％）具有分离的缺陷，72例（47.7％）具有额外的超声异常。核型分析确定了16个染色体异常。除了与核型分析一致的染色体异常的14例外，CMA还确定了另外20例（13.2％）的异常拷贝数变异（CNV），其中13例致病CNV，5是不确定的临床意义（VOU）和2的变化是良性的cnvs。非分离VSD中的致病CNV的检出率显着高于分离VSD（36.1％（26/72）与1.3％（1/79），p？= 0.001）。我们还发现CMA结果表明致病异常影响了妊娠终止率。该研究表明，CMA结合细胞遗传学分析特别有效地用VSD鉴定胎儿中的CNV，并且可以对产科结果产生影响。阐明VSD的病因表明，可以涉及基因突变或其他因素。

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