胎儿门静脉系统发育异常的产前超声诊断

Prenatal diagnosis of congenital agenesis of the portal venous system

目的分析产前诊断为先天性门静脉系统发育异常(CAPVS)的超声特征。方法收集产前超声诊断为CAPVS患者的影像学资料,比较Ⅰ型和Ⅱ型CAPVS的声像特征差异。结果研究共纳入20例CAPVS。14例Ⅰ型病例中,11例静脉导管缺失、脐静脉连接异常,3例静脉导管存在肝脏小、门静脉及分支未显示,10例(71%)合并其他畸形,染色体异常3例。6例Ⅱ型病例中,1例静脉导管缺失,2例左门静脉消失,3例门-肝静脉吻合,仅1例合并结构畸形,2例行染色体检查正常。结论产前超声检查可发现和诊断CAPVS。大部分Ⅰ型CAPVS病例合并其他畸形,部分合并染色体异常,而Ⅱ型病例合并畸形者较少。

Objective To analyze the prenatal sonographic features of congenital agenesis of the portal venous system （CAPVS）. Methods Imaging data were collected from fetuses diagnosed with CAPVS by prenatal ultrasound. The differences in sonographie features between total CAPVS cases （Type Ⅰ） and partial CAPVS cases （Type Ⅱ） were analyzed. Results Twenty CAPVS cases were included in the study. Among the fourteen Type I fetuses, eleven fetuses lacked the ductus venosus （DV） and presented with an aberrant shunt from the umbilical vein; in the remaining three fetuses, the DV and a small liver were present, but the portal vein and its branches were absent. Ten （71%） of the Type Ⅰ fetuses had additional anomalies, and chromosomal aberrations were observed in three cases. Among the six Type Ⅱ fetuses, the DV was absent in one case, the left portal vein was absent in two cases, and portal-hepatic venous anastomosis was observed in three cases. Only one of the Type II fetuses had additional structural anomalies, and chromosomal examinations of two cases produced normal results. Conclusions CAPVS can be detected and diagnosed by prenatal ultrasound examination. The majority of Type Ⅰ （total CAPVS） fetuses had additional anomalies; in addition, chromosomal ab- errations were observed in several Type Ⅰ cases. Type Ⅱ （ partial CAPVS） fetuses rarely exhibited additional anomalies.