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目的 探讨胎儿侧脑室扩张合并畸形及其与染色体异常的关系,为临床咨询提供参考。资料与方法 回顾性分析150例经超声诊断为侧脑室扩张胎儿的超声图像、染色体核型分析及高分辨微阵列比较基因组杂交技术(a CGH)结果。结果150例侧脑室扩张胎儿中,孤立性侧脑室扩张81例,合并胎儿超声软指标30例,合并其他中枢神经系统畸形22例,合并其他畸形17例。以上4组染色体核型分析中,异常核型13例,a CGH异常15例。各组染色体异常及a CGH检出率差异有统计学意义(P<0.05),其中超声软指标组染色体及a CGH异常率显著高于单纯性侧脑室扩张组(P<0.05),其余各组两两比较差异均无统计学意义(P>0.05)。结论 产前超声发现侧脑室扩张应仔细检查胎儿各系统。合并胎儿超声软指标或其他结构畸形时,染色体异常概率明显增加;孤立性侧脑室扩张也需排除染色体异常并定期超声随访。
Objective To investigate the relationship between fetal lateral ventricles dilatation and abnormality and its relationship with chromosomal abnormalities and provide reference for clinical consultation. Materials and Methods Retrospective analysis of 150 cases of ultrasound diagnosis of fetal lateral ventricle ultrasound images, chromosome karyotype analysis and high resolution microarray comparative genomic hybridization (a CGH) results. Results Among 150 cases of lateral ventricle dilatation fetuses, 81 cases were isolated solitary lateral ventricle dilatation, 30 cases were associated with fetal ultrasound soft index, 22 cases were complicated with other central nervous system deformities and 17 cases were complicated with other deformities. In the above four groups of karyotype analysis, abnormal karyotype in 13 cases, a CGH abnormalities in 15 cases. The chromosomal aberrations and CGH detection rates in each group were significantly different (P <0.05). The abnormal rates of chromosomal and CGH in the soft index group were significantly higher than those in the simple lateral ventricular dilatation group (P <0.05) There was no significant difference between any two groups (P> 0.05). Conclusion Prenatal ultrasound found that lateral dilatation of the fetus should be carefully examined the system. Combined with fetal ultrasound soft index or other structural abnormalities, the probability of chromosomal abnormalities increased significantly; isolated lateral ventricle dilatation also need to rule out chromosomal abnormalities and regular ultrasound follow-up.