下腔静脉离断并奇静脉连接胎儿的临床特点及预后

Characteristics and prognosis of interrupted inferior vena cava with azygous continuation

目的探讨下腔静脉离断并奇静脉连接（IIVC-AC）胎儿的临床特点及预后。方法回顾性分析2012年11月至2016年8月在北京大学人民医院行产前系统超声筛查的28567例孕妇中的21例IIVC．AC胎儿的临床资料、超声特点、遗传学诊断、妊娠结局及预后。结果IIVC-AC胎儿共21例，均为单胎妊娠，占本院产前系统超声筛查者的0．07％（21／28567），其中3例（14％，3／21）同时合并心内和一C,gb畸形，畸形类型包括心内膜垫缺损、单心房、单心室、双上腔静脉、右位心、无脾综合征、内脏反位、十二指肠闭锁；6例（29％，6／21）胎儿仅合并心内结构异常，包括左心发育不全、右室双出口、肺动脉狭窄、室间隔缺损、永存左上腔、心内膜垫缺损和大动脉异位，其中1例（1／6）行羊膜腔穿刺术并染色体核型分析未见异常；6例（29％，6／21）胎儿仅合并心外结构异常，包括无脾综合征、内脏反位、十二指肠闭锁；3例（14％，3／21）胎儿无其他器官的结构异常，但合并其他超声异常指标，包括右心室壁增厚、胎儿心动过缓、心包腔积液、腹腔积液、脐动脉收缩期与舒张末期血流速度峰值比值升高、单脐动脉，其中1例（5％，1／21）胎儿行脐带血穿刺术并染色体核型分析未见异常；3例（14％，3／21）胎儿为孤立的IIVC—AC，未合并其他严重畸形，其中1例（5％，1／21）行脐带血穿刺术并染色体核型分析及羊水单核苷酸多态性微阵列检查均未见异常。21例IIVC—AC胎儿中，5例（24％，5／21）自然分娩，1例（5％，1／21）剖宫产，产后随访12—40个月，未见明显异常，无染色体异常证据；10例（48％，10／21）胎儿引产，5例（24％，5／21）失访。结论胎儿IIVC．AC，多合并心血管系统和心外畸形，最常见的为心脏畸形和内脏反位，当合并心脏畸形和内脏反位时应考虑内脏异位综合征的可能，并进行胎儿染色体核型分析，染色体核型分析正常的孤立性IIVC—AC胎儿预后良好。

Objective To explore the clinical characteristics of interrupted of the inferior vena cava with azygous continuation and the prognosis. Methods Retrospective analysis of 21 fetuses diagnosed with interrupted inferior vena cava with azygous continuation among 28 567 pregnant women who underwent routine ultrasound scan. The clinical data, uhrasonographic features, genetic information and prognosis were collected. Results Interrupted of the inferior vena cava with azygous continuation occurred in 21（0.07%, 21/28 567） of 28 567 patients. Three fetuses （14%, 3/21） complicated with heart and extracardiae malformations, including endocardiac cushion defect, single atrium and single ventricle, double superior vena cava, dextrocardia, asplenia syndrome, visceral heterotaxy, duodenal atresia; six fetuses （29%, 6/21） were associated with cardiac anomalies, such as hypoplastie left heart syndrome, double outlet right ventricle, pulmonary stenosis, ventrieular septal defect, persistent left superior vena cava, endocardiac cushion defect and transposition of the great arteries; six cases （29%, 6/21） were only combined with extracardiac malformations, includingasplenia syndrome, visceral heterotaxy, duodenal atresia. Three fetuses （14%, 3/21） were nonorganic abnormalities included thickening of the right ventricle wall, fetal bradycardia, pericardial effusion, hydrops abdominis, increased peak systolic velocity/end diastolic velocity and single umbilical artery. Three fetuses （14%, 3/21） were isolated interrupted inferior vena cava with azygous continuation, but without other anomalies and 2 of them had normal fetal karyotype. Five cases （24%, 5/21） were successfully vaginal delivery, 1 case （5%, 1/21） had cesarean section. After 12-40 months follow-up, we didn＇t obeserve obviously abnormality, nor any chromosomal abnormality. Ten patients （48%, 10/21） opted for termination of the pregnancy and the autopsies were not done. Five cases （24%, 5/21） were lost to follow up. Conclusions Interrupted inferior vena cava with azygous continuation are associated with cardiovascular and extracardiac anomalies, cardiac malformation and visceral heterotaxy are the most common anomalies. Visceral heterotaxy should be considered and fetal karyotype should be suggested. In the cases of isolated interrupted inferior vena cava with azwous continuation and normal karyotype, the outcome is favorable.