颈项透明层厚度超声联合无创DNA对孕妇胎儿染色体非整倍体异常诊断效能的影响  

Effect of Ultrasound on Thickness of Neck Transparent Layer Combined with Noninvasive DNA on Diagnosis of Abnormal Chromosomal Aneuploidy

作　　者：彭建美[1] 李瑞 于娇[3] 王珍芳[1] 张莉莉[4] PENG Jian-mei;LI Rui;YU Jiao;WANG Zhen-fang;ZHANG Li-li(Department of Ultrasound,Shaanxi Provincial People's Hospital,Xi'an,Shaanxi,710068,China;Department of Ultrasound,Second Affiliated Hospital of Xi'an Medical College,Xi'an,Shaanxi,710043,China;Department of Radiotherapy,Shaanxi Provincial People's Hospital,Xi'an,Shaanxi,710068,China;Department of Obstetrics and Gynecology,Shaanxi Provincial People's Hospital,Xi'an,Shaanxi,710068)

机构地区：[1]陕西省人民医院超声科,陕西西安710068 [2]西安医学院第二附属医院超声科,陕西西安710043 [3]陕西省人民医院放疗科,陕西西安710068 [4]陕西省人民医院妇产科,陕西西安710068

出　　处：《现代生物医学进展》2021年第11期2129-2132,共4页Progress in Modern Biomedicine

基　　金：陕西省重点研发计划项目(2017SF-146)。

摘　　要：目的:探讨颈项透明层(nuchal translucency,NT)厚度超声联合无创DNA对孕妇胎儿染色体非整倍体异常诊断效能的影响。方法:2018年7月到2020年4月选择在本院进行产前筛查的孕妇120例,所有孕妇都给予NT厚度超声联合无创DNA检查,采用羊水穿刺分析检测结果为阳性的胎儿情况。结果:120例胎儿的NT厚度为0.8~10 mm,平均厚度为1.57±0.41 mm;不同孕妇年龄的NT厚度对比差异无统计学意义(P>0.05)。以羊水穿刺检测结果为金标准,120例胎儿中检出染色体非整倍体异常7例,NT超声检出12例,无创DNA检出13例,联合检出14例。NT超声、无创DNA与联合诊断的染色体非整倍体异常敏感性为57.1%、85.7%和100.0%,特异性为92.9%、93.8%和93.8%。检测结果为阳性的14例胎儿中,还包括3例淋巴水囊瘤,2例单脐动脉伴胎儿宫内发育迟缓,1例胎儿双肾畸形,1例胎儿并腿畸形。结论:颈项透明层厚度超声联合无创DNA在孕妇胎儿染色体非整倍体异常中的诊断具有操作简便、无创伤等特点,诊断敏感性与特异性都比较高,可对临床医生遗传咨询有一定的参考价值。Objective:To investigate the effect of the thickness of the nuchal translucency(NT)ultrasound combined with non-invasive DNA on the diagnostic efficiency of chromosomal aneuploidy in pregnant women and fetuses.Methods:A total of 120 pregnant women,who went to Shaanxi Provincial People's Hospital for prenatal screening from July 2018 to April 2020,were chosen as research subjects.All the pregnant women were given NT thickness ultrasound combined with non-invasive DNA examination,and the fetuses with positive results were given amniocentesis analysis.Results:The NT thickness of 120 fetuses was 0.8-10mm,and the average thickness was 1.57±0.41mm.There were no statistically significant differences in NT thickness of different pregnant women(P>0.05).Take the results of amniocentesis as the gold standard,in the 120 fetuses,chromosomal aneuploidy was detected in 7 cases,12 cases were detected by NT ultrasound,13 cases were detected by non-invasive DNA,and 14 cases were detected in combination.The sensitivity of NT ultrasound,non-invasive DNA and combination diagnosis of chromosomal aneuploidy were 57.1%,85.7%and 100.0%,and the specificity were 92.9%,93.8%and 93.8%.In the 14 fetuses with positive test results of combination diagnosis,there were 3 cases of lymphatic cystoma,2 cases of single umbilical artery with intrauterine growth delay,1 case of fetal kidney abnormalities,and 1 case of fetal sirenomelia.Conclusion:In the diagnosis of chromosomal aneuploidy abnormalities of pregnant women and fetuses,the cervical transparent layer thickness ultrasound combined with noninvasive DNA has the characteristics of simple operation and non-invasiveness.The sensitivity and specificity of the diagnosis are relatively high,which can be used for genetic consultation of clinicians.

关 键 词：颈项透明层 超声 无创DNA 染色体非整倍体异常 联合诊断 

分 类 号：R714.5[医药卫生—妇产科学] R445.1[医药卫生—临床医学]