无创产前筛查和血清产前筛查对胎儿染色体异常检出效率的比较  

Comparison of noninvasive prenatal testing and serum prenatal screening for the detection of fetal chromosomal abnormalities

作　　者：王霄霜 张少芬 郑燕銮[3] 徐晓园 WANG Xiaoshuang;ZHANG Shaofen;ZHENG Yanluan;XU Xiaoyuan(Department of Obstetrics and Gynecology,the First Affiliated Hospital of Shantou University Medical College,Shantou 515041,China;Department of Gynecology,Family Medicine Centre,the First Affiliated Hospital of Shantou University Medical College,Shantou 515041,China;Department of Clinical Laboratory,the First Affiliated Hospital of Shantou University Medical College,Shantou 515041,China)

机构地区：[1]汕头大学医学院第一附属医院妇产科,广东汕头515041 [2]汕头大学医学院第一附属医院全科医学分院妇科,广东汕头515041 [3]汕头大学医学院第一附属医院检验科,广东汕头515041

出　　处：《汕头大学医学院学报》2023年第2期95-99,共5页Journal of Shantou University Medical College

基　　金：汕头市医疗卫生科技计划项目(2021041)。

摘　　要：目的:探讨无创产前筛查(noninvasive prenatal testing,NIPT)和血清产前筛查对胎儿染色体异常的检出效率。方法:选择行产前筛查的1 666例孕妇,根据筛查方法分为血清学筛查组及NIPT组,分析比较两种筛查方法对胎儿染色体异常的检出效率。结果:(1)血清学组的筛查阳性检出率(8.33%)明显高于NIPT组的筛查阳性检出率(0.45%),血清学组的筛查假阳性率(6.45%)高于NIPT组的筛查假阳性率(0.00%),血清学组的筛查准确率(88.48%)显著低于NIPT组的筛查准确率(98.42%)(P<0.01)。(2)血清学组中高龄患者阳性检出率较非高龄患者高(P<0.01),但两者准确率差异无统计学意义(P>0.05),且血清学筛查异常人群后续直接行NIPT率较羊水穿刺诊断率高,分别为74.51%和7.84%(P<0.01);NIPT组高龄患者占比高于血清学组(P<0.01),NIPT组对高龄患者筛查准确率高于血清学组,分别为100.00%和77.42%(P<0.01)。结论:血清学筛查技术对筛查胎儿染色体异常有一定的临床意义,但存在较高的假阳性率,NIPT技术具有更高的准确率及较低的假阳性率,可以减少血清学筛查异常人群及高龄患者不必要的产前诊断,值得临床推广应用。Objective:To explore the efficiency of non-invasive prenatal testing(NIPT)and serological screening in detecting fetal chromosomal abnormalities.Methods:1666 pregnant women who underwent prenatal screening were selected and divided into serological screening group or NIPT group according to the screening methods,and the diagnostical value of the two methods was compared.Results:(1)The positive detection rate of serological screening group(8.33%)was significantly higher than that of NIPT group(0.45%).The false positive rate(6.45%)of serological screening was significantly higher than that of NIPT group(0.00%),while the accuracy rate(88.48%)was significantly lower than that of NIPT group(98.42%)(P<0.01).(2)The positive detection rate of elderly patients in serological screening was higher than that of non-elderly patients(P<0.01),but there was no statistically significant difference in the accuracy between them(P>0.05).The subsequent direct NIPT examination rate(74.51%)was higher than the amniocentesis diagnosis rate(7.84%)(P<0.01).The percentage of elderly patients in NIPT group was higher than that in serological screening group(P<0.01),and the accuracy rate(100.00%)of NIPT was higher than that in serological screening(77.42%)(P<0.01).Conclusion:Serologic screening technology has a certain clinical significance to screen fetal chromosomal abnormalities,but it has a high false positive rate.NIPT has higher accuracy and lower false positive rate,which can reduce unnecessary prenatal diagnosis of serological screening of abnormal population and elderly patients.It has the value of popularization and application.

关 键 词：无创产前筛查 血清产前筛查 胎儿 染色体异常 

分 类 号：R446.1[医药卫生—诊断学]