基因芯片对超声筛查胎儿畸形的诊断效果及其染色体核型异常对比

The comparison of gene chip and chromosomal karyotype abnormality for diagnosing fetal malformation after ultraphonic screening

目的:利用基因芯片技术分析超声筛查胎儿畸形染色体异常情况。方法:回顾性选取2016年11月-2019年10在本院行超声筛查异常行基因芯片分析的312例孕妇资料。收集临床资料并统计基因芯片分析及染色体核型分析结果。结果:312例孕妇中,超声筛查异常类型中神经系统异常(65例)、NT/NF增厚(57例)、心血管畸形(45例);基因芯片分析异常63例,多发畸形检出率最高(54.6%);260例成功行染色体核型分析,染色体核型异常29例,肿瘤(36.8%)及多发畸形中检出率占比最高(30.0%),其中2例47,XN,+mar,1例平衡易位,1例罗氏易位,1例性染色体嵌合,23例核型异常结果与芯片结果一致,另有1例芯片结果提示性染色体嵌合经染色体核型分析确证。结论:基因芯片可提高胎儿畸形染色体异常检出率,且基因芯片检出率高于染色体核型检出率。

Objective:To analyze the situation of chromosomal karyotype abnormality based on gene chip analyzed of fetal malformation after ultraphonic screening.Methods:From November 2016 to October 2019,the data of 312 pregnant women who had experienced gene chip technique because of their fetal malformation after ultraphonic screening were collected retrospectively.The results of fetal chromosome gene chip and karyotype analysis of these women were statistically analyzed.Results:Among the fetus of these 312 pregnant women,there were 65 cases with neurological abnormalities,57 cases with thickened NT/NF,and 45 cases with cardiovascular abnormalities after ultrasound screening.There were 63 abnormal case diagnosed by gene chip technique,and the detection rate of multiple malformations was the highest(54.6%).Among 260 cases with successful karyotype analysis,there were 29 cases with abnormal chromosome karyotype,and the detection rate of tumor(36.8%),the multiple malformation rate(30.0%)was the highest,which included 2 cases with 47,XN,+mar,1 case with balanced translocation,1 case with roche translocation,and 1 case with sex chromosome abnormal.There were 23 cases with karyotype abnormalities,which were consistent with the results of gene chip technique.1 case with sex chromosomal mosaic by gene chip technique was confirmed by cerotype analysis.Conclusion:Gene chip technique can improve the detection rate of fetal malformation chromosome abnormality,and the detection rate of gene chip technique is higher than that of chromosome karyotype.