摘要
Abstract
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 5 862 high-risk pregnant women who received prenatal examination in this hospi-tal 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 5 862 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 ab-normal fetal chromosome number,and the constituent ratio was 96.41％.There were 6 cases of fetal chromo-somal structural abnormalities,with a constituent ratio of 3.59％.A total of 119 cases of maternal fetal chro-mosomal abnormalities were diagnosed by CDUS.By consistency analysis,the sensitivity of CDUS in the diag-nosis 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 sensi-tivity,specificity and accuracy of the combination of the two in the diagnosis of fetal chromosomal abnormali-ties were 0.946,0.986,98.50％,and Kappa=0.775,P＜0.05.Conclusion Both NIPT and CDUS have cer-tain 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.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Key words
DNA non-invasive prenatal testing/color Doppler ultrasound examination/high-risk preg-nant women/fetal chromosomal abnormalities/application value分类
医药卫生
