Department of Obstetrics and Gynecology, The Chaim Sheba Medical Center, Tel Hashomer, Israel.
Ultrasound Obstet Gynecol. 2009 Dec;34(6):643-52. doi: 10.1002/uog.7460.
To describe the prenatal diagnosis and review our experience of fetal congenital agenesis of the portal venous system (CAPVS) and to review the current literature on this poorly documented vascular malformation.
This was a retrospective survey covering the 12-year period between 1996 and 2008. The database of a single, large, ultrasonographic tertiary academic referral center in Israel was analyzed and cases with a prenatal diagnosis of CAPVS were identified. All fetuses underwent detailed biometric and structural ultrasound examinations and a precise anatomical description of the fetal umbilical, portal and hepatic venous system was noted, as well as the presence of aberrant vessels, shunt location and the presence or absence of the DV. Results of fetal echocardiography, karyotyping and toxoplasma, rubella, cytomegalovirus and herpes evaluations were determined. Medical records were evaluated. Diagnosis was confirmed by pathology, postmortem venography or neonatal ultrasound or venography. Liveborns were examined by a certified neonatologist and long-term follow-up from pediatric gastroenterology units was determined.
Nine cases with CAPVS were studied. In all cases an aberrant umbilical-portal vein was the primary indication for detailed portal system evaluation. Five fetuses demonstrated total CAPVS (Type I) and four showed partial agenesis of the portal vein (Type II). Among the five Type I fetuses, there was a shunt from the umbilical vein to the inferior vena cava in three (60%), to the right atrium in one and to the coronary sinus in one. In this group, in only one case could we delineate a common confluence between the splenic vein and the superior mesenteric vein shunting to the inferior vena cava. In four cases termination of pregnancy was performed due to additional findings: one case with hydrothorax, ascites and mitral atresia, one with cleft lip/palate and one with trisomy 21. One case had no additional anomalies, but the parents elected to terminate the pregnancy. All four of the Type II fetuses had a portosystemic shunt: in two cases to the right atrium, in one to the iliac vein and in one to the right hepatic vein. In three, the shunt resolved spontaneously. In only one case was abnormal liver function present over a follow-up period of 2-10 years.
CAPVS can be detected prenatally. An abnormal course of the umbilical vein necessitates prompt sonographic evaluation of the umbilical-portal venous system and meticulous investigation for additional anomalies. Complete CAPVS may be associated with remote clinical consequences of which the parents should be informed. Partial CAPVS has a favorable prognosis.
描述先天性门静脉系统发育不全（CAPVS）的产前诊断，并回顾我们的经验，同时回顾该少见血管畸形的现有文献。
这是一项回顾性研究，涵盖了 1996 年至 2008 年的 12 年。对以色列一个大型超声三级转诊中心的数据库进行了分析，并确定了产前诊断为 CAPVS 的病例。所有胎儿均行详细的生物测量和结构超声检查，并详细描述胎儿脐静脉、门静脉和肝静脉系统的解剖结构，注意异常血管的存在、分流部位以及是否存在肝静脉。还记录了胎儿心脏超声、染色体核型分析以及弓形虫病、风疹、巨细胞病毒和单纯疱疹病毒的检测结果。评估了病历资料。通过病理、死后静脉造影或新生儿超声或静脉造影证实诊断。对活产儿由认证的新生儿科医生进行检查，并确定来自儿科胃肠病学单位的长期随访情况。
共研究了 9 例 CAPVS 患者。在所有病例中，异常脐静脉均是进行详细门静脉系统评估的主要指征。5 例胎儿表现为完全性 CAPVS（I 型），4 例为部分性门静脉发育不全（II 型）。在 5 例 I 型胎儿中，有 3 例（60%）存在脐静脉至下腔静脉分流，1 例至右心房，1 例至冠状窦。在这组中，只有 1 例可以描绘出脾静脉和肠系膜上静脉之间的共同汇合，该分流流向下腔静脉。由于发现其他异常，4 例（44%）终止了妊娠：1 例合并胸腔积液、腹水和二尖瓣闭锁，1 例合并唇腭裂，1 例合并 21 三体。1 例无其他异常，但父母选择终止妊娠。4 例 II 型胎儿均存在门体分流：2 例至右心房，1 例至髂静脉，1 例至右肝静脉。其中 3 例分流自发缓解。仅 1 例在 2-10 年的随访中出现肝功能异常。
CAPVS 可在产前发现。异常脐静脉需及时行超声评估脐静脉-门静脉系统，并仔细检查是否存在其他异常。应告知完全性 CAPVS 患儿的父母可能存在的长期临床后果。部分性 CAPVS 预后良好。
