论文部分内容阅读
目的:探讨颅内间隙异常胎儿的基因组拷贝数变化。方法:对颅内间隙异常而常规染色体核型分析未见异常的胎儿采用微阵列比较基因组杂交技术(array-based comparative genomic hybridization,array-CGH)进行基因组拷贝数变化的检测分析(copy number variations,CNVs)。结果:44例头部间隙发育异常但常规G显带染色体核型分析正常的胎儿,检出致病性染色体微缺失3例,微重复3例,异常检出率13.6%(6/44),其中透明隔腔消失或缩小、侧脑室前角扩张和或伴侧脑室体部增宽的14例,发现微缺失3例、微重复2例,异常检出率35.7%;单纯侧脑室体部增宽30例,包括27例轻度增宽和3例重度增宽,在重度增宽病例中发现1例存在染色体微重复,异常检出率3.3%(1/30)。结论:胎儿透明隔腔发育异常、侧脑室前角增宽时胎儿亚显微结构异常的发生率高,array-CGH可为临床遗传诊断提供依据。
Objective: To investigate the genomic copy number changes in fetus with abnormal intracranial space. METHODS: Genomic copy number changes were detected by array-based comparative genomic hybridization (array-CGH) in fetuses with abnormal intracranial space and normal karyotype analysis. CNVs). Results: Totally 44 fetuses with dysplastic head space but normal G - banding karyotype were detected. Pathogenic microdeletions were detected in 3 cases and micro - repeat in 3 cases. The abnormal detection rate was 13.6% (6/44) Among them, there were 14 cases of disappearance or reduction of the transparent compartment, disappearance or contraction of the anterior chamber of the lateral ventricle and broadening of the lateral ventricle body. Three cases were found to be microdeletions, and two cases were found to be micro-repeat with an abnormal detection rate of 35.7% 30 cases were wide, including 27 cases of mild and 3 cases of severe broadening. In one case of severe broadening, 1 case of microdissection was found, and the abnormality detection rate was 3.3% (1/30). Conclusion: Fetal transparent compartment dysplasia, lateral ventricular anterior horn widened when the incidence of abnormal fetal microstructure was high, array-CGH can provide the basis for clinical genetic diagnosis.