染色体微阵列分析技术在侧脑室增宽胎儿产前诊断中的应用价值

发布时间：2018-12-12 17:53

【摘要】：目的应用染色体微阵列分析技术(CMA)在全基因组水平分析侧脑室增宽胎儿的遗传学病因,探讨胎儿侧脑室增宽与染色体拷贝数变异(CNVs)的相关性及CMA检测在侧脑室增宽胎儿产前诊断中的应用价值。方法选取2015年1月-2016年11月在第四军医大学西京医院就诊并接受介入性产前诊断的70例孕中/晚期超声提示胎儿侧脑室宽大于1.0cm且标准G显带染色体核型分析正常或G显带染色体核型分析不能确定的染色体异常胎儿样本,应用Affymetrix Cy to ScanTM 750k芯片进行CMA检测,根据相关生物信息学数据库对CMA检测结果进行全面分析,并定期复查胎儿的发育情况,随访妊娠结局及胎儿出生后的生长发育状况。结果在70例侧脑室增宽胎儿中,CMA检测发现9例胎儿存在致病性CNVs,3例胎儿存在意义不明确、可能致病的CNVs,1例胎儿存在意义不明确、可能致病的杂合性缺失(LOH)。在70例侧脑室增宽胎儿中,重度非孤立性侧脑室增宽6例,其中致病性CNVs 2例(33.3%,2/6);重度孤立性侧脑室增宽3例,未检出致病性CNVs,意义不明确、可能致病CNVs 1例(33.3%,1/3);轻度非孤立性侧脑室增宽31例,其中致病性CNVs 6例(19.4%,6/31),意义不明确、可能致病CNVs 2例(6.5%,2/31);轻度孤立性侧脑室增宽30例,其中致病性CNVs 1例(3.3%,1/30),意义不明确、可能致病CNVs 1例(3.3%,1/30)。结论 CMA可更有效地检测出传统核型分析无法识别的微缺失、微重复等染色体异常,对侧脑室增宽的胎儿进行CMA检测能够提高异常检出率,对临床产前诊断及遗传咨询具有重要价值。
[Abstract]:Objective to analyze the genetic causes of lateral ventricular enlargement (VVH) fetus by chromosome microarray analysis (CMA) at the whole genome level. To investigate the correlation between fetal lateral ventricular widening and chromosome copy number variation (CNVs) and the value of CMA in prenatal diagnosis of fetal lateral ventricular enlargement. Methods from January 2015 to November 2016, 70 cases of fetal lateral ventricle larger than 1.0cm and standard G-banding chromosome karyotype were selected from Xijing Hospital of fourth military Medical University and received interventional prenatal diagnosis. Analysis of normal or G-banded chromosomal karyotype analysis of fetal samples with chromosomal abnormalities, Affymetrix Cy to ScanTM 750k chip was used to detect CMA, and the results of CMA were analyzed according to the relevant bioinformatics database. The development of fetus, pregnancy outcome and fetal growth and development after birth were reviewed periodically. Results in 70 fetuses with lateral ventricular enlargement, CMA detection showed that 9 fetuses had pathogenicity CNVs,3 cases had undefined fetal significance, CNVs,1 fetus had unclear significance, and might cause loss of heterozygosity (LOH). Of the 70 cases of lateral ventricular enlargement, 6 cases were severe non-isolated lateral ventricular enlargement, 2 cases were pathogenicity CNVs (33.3% / 6). In 3 cases of severe isolated ventricular enlargement, the significance of pathogenicity CNVs, was not clear, and 1 case might cause CNVs (33.3 / 1 / 3). There were 31 cases of mild non-solitary lateral ventricular enlargement, of which 6 cases were pathogenicity CNVs (19.4% / 31), the meaning was not clear, and 2 cases might cause CNVs (6.5% / 31). There were 30 cases of mild isolated ventricular enlargement, of which 1 case was pathogenicity CNVs (3.3 / 30%), the meaning was not clear, and 1 case might cause CNVs (3.33 / 30%). Conclusion CMA can more effectively detect chromosomal abnormalities such as microdeletion and microduplication which can not be identified by traditional karyotype analysis. The detection rate of abnormal chromosomes can be increased by CMA detection in fetuses with contralateral ventricular enlargement. It has important value for clinical prenatal diagnosis and genetic counseling.
【作者单位】：第四军医大学西京医院妇产科;
【分类号】：R714.53

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