无创基因检测联合单项超声软指标异常在胎儿染色体筛查中的应用及围生结局  

Application of noninvasive genetic testing combined with ultrasound soft index in fetal chromosome screening

作　　者：薛永铭[1] 陈怡博[1] XUE Yong-ming;CHEN Yi-bo(Department of Ultrasound, Ningbo Womens and Childrens Hospital, Ningbo, Zhejiang 315000, China)

机构地区：[1]宁波市妇女儿童医院超声科

出　　处：《中华全科医学》2019年第8期1372-1374,共3页Chinese Journal of General Practice

基　　金：浙江省医药卫生科技计划项目(2018KY720)

摘　　要：目的探讨胎儿染色体筛查中应用无创基因检测联合单项超声软指标异常的指导意义以及对围生结局的影响。方法选取2018年1-12月宁波市妇女儿童医院收治的单项超声软指标异常孕妇410例作为研究对象,对410例单项超声软指标阳性的孕妇进行无创基因检测,并对无创基因检测结果诊断为高风险的孕妇实施侵入性检查,对获得的绒毛组织及羊水实施染色体核型分析,明确诊断的准确率,观察染色体异常情况及指标阳性分布以及无创基因检测结果中高风险孕妇的围生结局。结果 410例单项超声软指标阳性的孕妇中共检测出11例无创高风险胎儿,11例无创高风险胎儿中21-三体异常表现的有8例胎儿,通过与其他核型异常的情况对比发现,其发生率较高;无创高风险孕妇中核型异常包含13-三体、18-三体及21-三体共9例,都采取引产的方式,2例染色体异常孕妇选择足月分娩的方式。结论胎儿产前筛查在三维超声基础上,对超声软指标异常的孕妇进行无创基因检测,能够有效提升筛查准确率,并且使用无创基因检测也有着比较良好的筛查效果,有效降低了临床中使用侵入性检查的概率,使孕妇流产的风险明显减少,值得临床中大力推广与应用。Objective To discuss the guiding significance of noninvasive genetic testing combined with single ultrasound soft index abnormality in fetal chromosome screening and its influence on perinatal outcome. Methods A total of 410 pregnant women with abnormal soft index of ultrasound were selected from January 2018 to December 2018 in our hospital. As the subjects of this study, 410 pregnant women with positive soft index of ultrasound were tested for non-invasive genes, and pregnant women with high risk of non-invasive gene detection were tested for invasiveness, and chromosome karyotype analysis of villus tissue and amniotic fluid was carried out. The accuracy of diagnosis, chromosome abnormalities and positive distribution of indicators, and perinatal outcomes of high-risk pregnant women in non-invasive gene test results were observed. Results A total of 11 non-invasive high-risk fetuses were detected in 410 pregnant women with positive single ultrasound soft index, and 8 of 11 non-invasive high-risk fetuses showed abnormal trisomy 21. Compared with other abnormal karyotypes, the incidence of abnormal karyotypes in non-invasive high-risk pregnant women was higher. Karyotype abnormalities in non-invasive high-risk pregnant women included trisomy 13, trisomy 18, trisomy 21 and trisomy 21. Abnormal pregnant women choose full-term delivery. Conclusion On the basis of three-dimensional ultrasound, prenatal screening for pregnant women with abnormal ultrasound soft indicators can be detected by non-invasive gene method, which can effectively improve the accuracy of screening, and the use of non-invasive gene detection also has a relatively high quality screening effect. It can effectively reduce the probability of clinical use of invasive screening, and significantly reduce the risk of abortion of pregnant women. It is worth popularizing and applying in clinic.

关 键 词：无创基因检测 超声软指标异常 染色体筛查 侵入性检测 三维超声 

分 类 号：R714.5[医药卫生—妇产科学] R446.7[医药卫生—临床医学]