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目的:探讨早孕期超声诊断胎儿异构综合征的价值。方法:选择2015年1月至2020年3月于广西壮族自治区妇幼保健院筛查为异构综合征的15例胎儿，分析其早孕期超声特征，结合中孕早期超声特征及病理解剖结果进行对照研究。结果:15例异构综合征胎儿中左侧异构综合征6例，右侧异构综合征9例。早孕期颈项透明层(nuchal translucency，NT)≥3.0 mm 6例(6/15)，静脉导管A波倒置10例(10/15)，房室瓣反流14例(14/15)，内脏位置异常14例(14/15)。心脏畸形14例(14/15)，其中功能性单心室6例，完全型房室间隔缺损8例，大动脉畸形12例(12/15)。左侧异构综合征6例均合并心动过缓，3例合并下腔静脉离断；右侧异构综合征中6例腹主动脉与下腔静脉并置，1例合并完全性肺静脉异位引流。主要结构畸形的早孕期超声诊断与中孕早期超声、引产后病理解剖一致。12例行染色体及微阵列检测均正常。结论:早孕期右侧异构综合征的胎儿非整倍体超声指标阳性率高，以房室瓣反流发生率最高，但染色体异常风险低。早孕期超声筛查胎儿心脏结构畸形有利其早期诊断。“,”Objective:To assess the value of ultrasonography in the diagnosis of fetal isomerism syndrome in the first trimester.Methods:Sonographic features of 15 fetuses with isomerism syndrome diagnosed in the Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region from January 2015 to March 2020 were reviewed. Ultrasonic characteristics in the first trimester were analyzed, and the ultrasonic characteristics of early mid-trimester and pathological anatomical results were combined for comparison.Results:There were 6 cases of left isomerism syndrome (LIS) and 9 cases of right isomerism syndrome (RIS) in the 15 fetues.Increased nuchal translucency(NT) (≥3.0 mm, 6 cases), reversed A wave in ductus venosus (10 cases), and atrio-ventricular valve regurgitation (14 cases) were found during the first trimester. There were 14 cases with abnormal visceral laterality. Of the 15 fetues, 14 cases with cardiac malformations, including 6 cases of functional single ventricle, 8 cases of complete atrioventricular septal defect (CAVSD), and 12 cases with great artery abnormalities. All of the 6 LIS cases had bradycardia, 3 cases had interruption of inferior vena cava (IVC). Six cases of RIS had juxtaposition of descending aorta and IVC, and 1 case of RIS had total anomalous pulmonary vein drainage. The major structural malformations were consistent with the early mid-trimester ultrasound examination or autopsy. Karyotype and chromosomal microarray were available in 12 cases and all were normal.Conclusions:Isomerism syndrome has high positive rate of fetal aneuploidies ultrasonographic marker, especially with the atrio-ventricular valve regurgitation, but the risk of chromosome abnormality is low. Ultrasound screening for fetal cardiac structural abnormalities is beneficial to the early diagnosis of isomerism syndrom in the first trimester.