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目的:分析胎儿颈项透明层厚度(NT)超声检测联合孕中期四维彩超诊断胎儿畸形的临床价值。方法:抽取2018年5月至2021年5月驻马店市第一人民医院行胎儿畸形筛查的孕妇124例，均行胎儿NT超声、孕中期四维彩超诊断。统计胎儿NT超声、孕中期四维彩超诊断单独诊断与二者联合诊断的诊断结果、诊断效能，记录胎儿NT超声及孕中期四维彩超对胎儿畸形的检出情况。结果:124例孕妇经引产或产后确诊阳性43例，阴性81例；采用NT超声诊断真阳性32例，真阴性79例；采用孕中期四维彩超诊断真阳性39例，真阴性81例；二者联合诊断真阳性43例，真阴性81例。NT超声联合孕中期四维彩超诊断灵敏度为100%(43/43)，准确度为100%(124/124)，高于NT超声的74.42%(32/43)、89.52%(111/124)和孕中期四维彩超的90.70%(39/43)、96.77%(120/124)，NT超声联合孕中期四维彩超诊断的漏诊率(0，0/43)低于NT超声(25.58%，11/43)和孕中期四维彩超(9.30%，4/43)，n P<0.05。采用NT超声对巨膀胱、无脑儿、全前脑检出率均为100%；采用孕中期四维彩超对唇腭裂、腹部囊性包块、心血管发育异常、胼胝体缺失、隔离肺、水肿综合征、四肢短小、双手内翻检出率均为100%。n 结论:胎儿NT超声、孕中期四维彩超对不同胎儿畸形检出率存在差异，联合应用不仅可提高诊断效能，并能提高多类型畸形检出率，降低缺陷儿出生风险，改善人口质量。“,”Objective:To analyze the clinical application of ultrasonic measurement of nuchal translucency (NT) combined with four-dimensional color Doppler ultrasound in the second trimester in the diagnosis of fetal malformations.Methods:One hundred and twenty-four pregnant women who underwent fetal malformation screening in Zhumadian First People’s Hospital from May 2018 to May 2021 were selected. All pregnant women were diagnosed by fetal NT ultrasound and four-dimensional color Doppler ultrasound in the second trimester. The diagnostic results and diagnostic efficacy of fetal NT ultrasound, four-dimensional color Doppler ultrasound, and combination of them in the second trimester were counted, and the detection of fetal congenital malformations by fetal NT ultrasound and four-dimensional color Doppler ultrasound in the second trimester were recorded.Results:Among 124 pregnant women, 43 cases were positive, and 81 cases were negative according to induction of labor or postpartum; 32 cases were true positives, and 79 cases were true negatives diagnosed by NT ultrasound; 39 cases were true positives, and 81 cases were true negatives diagnosed by four-dimensional color Doppler ultrasound in the second trimester; 43 cases were true positive, and 81 cases were true negative by combined diagnosis. The diagnostic sensitivity and accuracy of NT ultrasound combined with four-dimensional color Doppler ultrasound in the second trimester (100%, 43/43; 100%, 124/124) were higher than those of NT ultrasound (74.42%, 32/43; 89.52%, 111/124) and four-dimensional color Doppler ultrasound in the second trimester (90.70%, 39/43; 96.77%, 120/124), and the rate of missed diagnosis (0, 0/43) was lower than that of NT ultrasound (25.58%, 11/43) and four-dimensional color Doppler ultrasound (9.30%, 4/43), in the second trimester (n P<0.05). The detection rates of megabladder, anencephaly and whole forebrain by NT ultrasonography all were 100%. The detection rates of cleft lip and palate, abdominal cystic mass, abnormal cardiovascular development, absence of corpus callosum, isolated lung, edema syndrome, short limbs and hands varus all were 100% by four-dimensional color Doppler ultrasound in the second trimester.n Conclusions:The detection rates of fetal malformations screened by fetal NT ultrasound and four-dimensional color Doppler ultrasound in the second trimester are different. The combined application can not only improve the diagnostic efficiency, but also improve the detection rate of multiple malformations, reduce the birth risk of defective children, and improve the population quality.