摘要
目的探讨DNA无创产前检测(NIPT)及彩色多普勒超声(简称彩超)检查在高危孕妇胎儿染色体异常筛查中的应用价值。方法选取2020年1月至2022年12月于该院接受产前检查的5862例高危孕妇作为研究对象,均接受NIPT、彩超检查,以羊水穿刺结果或分娩结局作为诊断胎儿染色体异常的金标准,比较NIPT、彩超检查及二者联合检查对高危孕妇胎儿染色体异常的诊断效能。结果5862例高危孕妇中共检出167例胎儿染色体异常,检出率为2.85%。167例胎儿染色体异常中胎儿染色体数目异常161例,构成比为96.41%;胎儿染色体结构异常6例,构成比为3.59%。彩超检查共诊断出119例孕妇胎儿染色体异常,经一致性分析,彩超检查诊断胎儿染色体异常的灵敏度为0.713,特异度为0.884,准确率为87.96%,Kappa=0.215,P<0.05。NIPT共诊断出133例孕妇胎儿染色体异常,经一致性分析,NIPT诊断胎儿染色体异常的灵敏度为0.796,特异度为0.945,准确率为94.05%,Kappa=0.408,P<0.05。彩超检查联合NIPT共诊断出158例孕妇胎儿染色体异常,经一致性分析,二者联合检查诊断胎儿染色体异常的灵敏度为0.946,特异度为0.986,准确率为98.50%,Kappa=0.775,P<0.05。结论NIPT与彩超检查用于筛查高危孕妇胎儿染色体异常均具有一定价值,二者联合检查可获得更高的灵敏度、特异度和准确率,能有效降低漏诊及误诊风险。
Objective To explore the application value of DNA non-invasive prenatal testing(NIPT)and color Doppler ultrasound(CDUS)in screening of fetal chromosomal abnormalities in high-risk pregnant women.Methods A total of 5862 high-risk pregnant women who received prenatal examination in this hospital from January 2020 to December 2022 were selected as the research objects.All of them received NIPT and CDUS examination,and the results of amniotic fluid puncture or delivery outcome were used as the"gold standard"for the diagnosis of fetal chromosomal abnormalities.The diagnostic efficacy of NIPT,CDUS and their combination for fetal chromosomal abnormalities in high-risk pregnant women were compared.Results Among 5862 high-risk pregnant women,167 cases of fetal chromosome abnormalities were detected,and the detection rate was 2.85%.Among 167 cases of fetal chromosomal abnormalities,there were 161 cases of abnormal fetal chromosome number,and the constituent ratio was 96.41%.There were 6 cases of fetal chromosomal structural abnormalities,with a constituent ratio of 3.59%.A total of 119 cases of maternal fetal chromosomal abnormalities were diagnosed by CDUS.By consistency analysis,the sensitivity of CDUS in the diagnosis of fetal chromosomal abnormalities was 0.713,the specificity was 0.884,the accuracy rate was 87.96%,Kappa=0.215,P<0.05.A total of 133 cases of fetal chromosomal abnormalities were diagnosed by NIPT.By consistency analysis,the sensitivity of NIPT in the diagnosis of fetal chromosomal abnormalities was 0.796,the specificity was 0.945,the accuracy rate was 94.05%,Kappa=0.408,P<0.05.A total of 158 cases of fetal chromosomal abnormalities were diagnosed by CDUS combined with NIPT.By consistency analysis,the sensitivity,specificity and accuracy of the combination of the two in the diagnosis of fetal chromosomal abnormalities were 0.946,0.986,98.50%,and Kappa=0.775,P<0.05.Conclusion Both NIPT and CDUS have certain value in detecting fetal chromosomal abnormalities in high-risk pregnant women.The combination of NIPT and CDUS can obtain higher sensitivity,specificity and accuracy,and effectively reduce the risk of missed diagnosis and misdiagnosis.
作者
成艳
马雯
权秋宁
于青
杜小云
CHENG Yan;MA Wen;QUAN Qiuning;YU Qing;DU Xiaoyun(Department of Genetics,Baoji Maternal and Child Health Hospital,Baoji,Shaanxi 721000,China)
出处
《检验医学与临床》
CAS
2024年第2期217-220,共4页
Laboratory Medicine and Clinic
关键词
DNA无创产前检测
彩色多普勒超声检查
高危孕妇
胎儿染色体异常
应用价值
DNA non-invasive prenatal testing
color Doppler ultrasound examination
high-risk pregnant women
fetal chromosomal abnormalities
application value
