摘要
目的 探讨无创产前基因检测联合早孕期胎儿超声检查对胎儿染色体异常筛查的临床效果。方法 选择2020年1月—2021年1月来吉林市人民医院产检的早孕期孕妇6 175例为研究对象,将其接受的产前筛查项目作为基本依据,随机分为四组,分别是无创产前基因检测筛查组(n=1 544)、超声NT筛查组(n=1 549)、母血清学筛查组(n=1 542)以及无创产前基因联合超声检测筛查组(n=1 540),所有产妇均行羊膜腔穿刺,根据羊水细胞培养染色体核型分析诊断胎儿染色体异常,对于阴性受检者,对胎儿妊娠结局进行观察随访,并且诊断所有受检者的胎儿染色体。结果 无创产前基因联合超声检测筛查组的特异度高于母血清学筛查组,差异有统计学意义(P <0.05);与超声NT筛查组、无创产前基因检测筛查组相比,无创产前基因联合超声检测筛查组的阴性预测值较高,比较差异有统计学意义(P <0.05);无创产前基因联合超声检测筛查组阳性预测值高于母血清学筛查组,差异有统计学意义(P <0.05);其他各组的阴性预测值、阳性预测值、特异度以及灵敏度各项指标对比差异无统计学意义(P> 0.05)。结论 超声检查联合无创产前基因检测对胎儿染色体异常进行筛查具有可重复性好、安全性高、无创性等诸多优点,并且具有较高的检出率,是安全、有效的一种方法。
Objective To investigate the clinical effect of noninvasive prenatal gene detection combined with fetal ultrasound in early pregnancy on fetal chromosome abnormality screening.Methods A total of 6175 pregnant women in early pregnancy who came to Jilin People’s Hospital for prenatal examination from January 2020 to January 2021 were selected as the research object.Taking the prenatal screening items as the basic basis,they were randomly divided into four groups:noninvasive prenatal gene testing screening group(n=1544),ultrasonic NT screening group(n=1549),maternal serological screening group(n=1542)and noninvasive prenatal gene combined ultrasound screening group(n=1540),all pregnant women were underwent amniocentesis to diagnose fetal chromosome abnormalities according to amniotic fluid cell culture chromosome karyotype analysis.For negative subjects,fetal pregnancy outcomes were observed and followed up,and fetal chromosomes of all subjects were diagnosed.Results The specificity of the non-invasive prenatal gene combined with ultrasound screening group was higher than that of the maternal serology screening group,and the difference was statistically significant(P<0.05);compared with the ultrasound NT screening group and the non-invasive prenatal genetic testing screening group,the negative predictive value of non-invasive prenatal gene combined with ultrasound detection screening group was higher,and the differences were statistically significant(P<0.05);the positive predictive value of non-invasive prenatal gene combined with ultrasound detection screening group was higher than that of maternal serological screening,the difference was statistically significant(P<0.05);the negative predictive value,positive predictive value,specificity and sensitivity of the other groups had no significant differences(P>0.05).Conclusion Ultrasound combined with noninvasive prenatal gene detection has many advantages,such as good repeatability,high safety and noninvasive,and has a high detection rate.It is a safe and effective method.
作者
陈璐璐
罗微
王显芝
CHEN Lulu;LUO Wei;WANG Xianzhi(Department of Function,Jilin People’s Hospital,Jilin Jilin 132001,China;Department of Blood Transfusion,Jilin People’s Hospital,Jilin Jilin 132001,China)
出处
《中国卫生标准管理》
2022年第15期67-71,共5页
China Health Standard Management
基金
中科院苏州医工所-吉林市科技合作专项项目(E055PY06)。
关键词
无创产前基因检测
超声检查
血清学筛查
染色体异常
联合筛查
早孕期
noninvasive prenatal gene testing
ultrasonic examination
serological screening
chromosome abnormality
joint screening
early pregnancy
