超声检查联合NIPT在高龄孕妇产前筛查中的应用价值  

Application value of ultrasound combined with NIPT in prenatal screening of women with advanced maternal age

作　　者：杨鹏[1] 唐凯[1] 张娟玲[1] 王文娟[1] 胡晓红 王倩 YANG Peng;TANG Kai;ZHANG Juanling;WANG Wenjuan;HU Xiaohong;WANG Qian(Genetic Eugenics Laboratory,Maternal and Child Health Hospital of Baoji,Baoji,Shaanxi 721000,China;Baoji Jintai District Maternal and Child Health and Family Planning Service Center,Baoji,Shaanxi 721000,China;Department of Clinical Laboratory,Baoji Central Hospital,Baoji,Shaanxi 721000,China)

机构地区：[1]陕西省宝鸡市妇幼保健院遗传优生实验室,陕西宝鸡721000 [2]陕西省宝鸡市金台区妇幼保健计划生育服务中心,陕西宝鸡721000 [3]陕西省宝鸡市中心医院检验科,陕西宝鸡721000

出　　处：《检验医学与临床》2024年第22期3348-3351,3358,共5页Laboratory Medicine and Clinic

基　　金：陕西省宝鸡市卫生健康委员会科研计划立项课题(2020-056)。

摘　　要：目的探讨超声检查联合无创产前DNA检测(NIPT)在高龄孕妇中对胎儿染色体异常筛查的临床应用价值。方法选取2020-2023年在宝鸡市妇幼保健院接受产前检查的3820例高龄孕妇作为研究对象,所有孕妇均接受超声检查及NIPT,以羊膜腔穿刺结果或妊娠结局作为胎儿染色体异常的诊断标准,比较超声检查、NIPT及二者联合应用对胎儿染色体异常的诊断情况。结果3820例高龄孕妇中NIPT筛查出高风险57例;超声检查软指标异常95例,结构异常63例;超声检查联合NIPT诊断胎儿染色体异常的灵敏度、特异度和阳性预测值分别为93.18%、99.89%、91.11%。结论高龄孕妇胎儿染色体产前筛查中,超声检查联合NIPT可以相互补充参考,可有效提高染色体异常检出的灵敏度、特异度,降低假阳性率和假阴性率,实现对出生缺陷的早发现、早诊断及早干预。Objective To investigate the clinical value of ultrasound combined with non-invasive prenatal DNA testing(NIPT)in the screening of fetal chromosomal abnormalities in pregnant women with advanced maternal age.Methods A total of 3820 pregnant women with advanced maternal age who received prenatal examination in Maternal and Child Health Hospital of Baoji from 2020 to 2023 were selected as the research objects,and all pregnant women received ultrasound examination and NIPT.The results of amniocentesis or pregnancy outcome were used as the diagnostic criteria for fetal chromosomal abnormalities,and the diagnostic performance of ultrasonography,NIPT and their combination was compared.Results Among the 3820 pregnant women with advanced maternal age,57 cases were at high risk by NIPT.Ultrasound examination showed that 95 cases of soft index abnormalities and 63 cases of structural abnormalities.The sensitivity,specificity and positive predictive value of ultrasound combined with NIPT in the diagnosis of fetal chromosomal abnormalities were 93.18%,99.89% and 91.11% respectively.Conclusion In the prenatal screening of fetal chromosome in pregnant women with advanced maternal age,ultrasound combined with NIPT can complement each other,which can effectively improve the sensitivity and specificity of the detection of chromosomal abnormalities,reduce the false positive rate and false negative rate,and realize the early detection,early diagnosis and early intervention of birth defects.

关 键 词：染色体异常 超声检查 无创产前DNA检测 高龄孕妇 产前筛查 

分 类 号：R714.55[医药卫生—妇产科学] R445.1[医药卫生—临床医学]