胎儿永存左上腔静脉的产前超声诊断特征及其临床意义

目的 探讨胎儿永存左上腔静脉(PLSVC)的产前超声诊断特征及其临床意义.方法 对646例产前超声诊断为PLSVC胎儿的超声资料、染色体核型分析结果、随访情况及妊娠结局进行回顾性分析.结果 (1)646例PLSVC胎儿中,超声显示PLSVC经冠状静脉窦引流入右心房619例(95.8%),PLSVC引流入左心房9例(1.4%),PLSVC直接引流入右心房18例(2.9%).(2)单纯PLSVC 283例(43.8%),合并其他畸形363例(56.2%),最常见的3种畸形依次是心血管系统畸形(36.4%)、软指标异常(23.7%)、颜面部异常(4.0%);最常见的心血管系统畸形是室间隔缺损、心内膜垫缺损、肺动脉闭锁或狭窄.(3)142例胎儿行染色体核型检查,发现核型异常17例;染色体核型异常率单纯PLSVC胎儿为1.9%(1/53),仅合并软指标异常胎儿的为17.9%(7/39),合并心内(外)畸形胎儿的为18.0%(9/50).(4)获随访314例,其中终止妊娠162例,中孕期流产1例,分娩151例,新生儿死亡4例,存活147例,存活率为97.4%(147/151).结论 PLSVC胎儿合并其他畸形风险高;无高危背景的单纯PLSVC为血管变异,合并软指标异常或结构畸形时染色体异常风险较高.

Diagnostic features of prenatal ultrasound for fetal persistent left superior vena cava and its clinical significance

Objective To explore the diagnostic features of prenatal ultrasound for fetal persistent left superior vena cava(PLSVC) and its clinical significance.Methods A total of 646 fetuses diagnosed as PLSVC by prenatal ultrasound were enrolled.The ultrasound data,results of chromosome karyotyping,follow-up and pregnancy outcome were retrospectively analyzed.Results (1)Ultrasound revealed 619 cases(95.85%),9 cases(1.4%) and 18 cases(2.9%) with PLSVC drained into right atrium through coronary sinus, left atrium and right atrium directly,respectively,out of 646 fetuses with PLSVC.(2) Simple PLSVC was found in 283 cases(43.8%) and complication with other malformations in 363 cases(56.2%).The three most common malformations were in the order of cardiovascular malformation(36.4%),soft markers of chromosomal abnormalities(23.7%) and facial deformity(4.0%).The most common cardiovascular malformations were ventricular septal defect,endocardial cushions defect and pulmonary atresia or stenosis.(3) Chromosome karyotyping examination was conducted in 142 cases,and abnormal karyotype were found in 17 cases.The incidence rate of abnormal chromosome karyotyping in the fetuses with simple PLSVC was 1.9%(1/53),of the PLSVC fetuses complicated with soft markers of chromosomal abnormalities was 17.9%(7/39),and of the PLSVC fetuses complicated with endocardial/extracardial malformations was 18.0%(9/53).(4) Follow-up was performed in 314 cases,termination of pregnancy in 162 cases,miscarry during middle pregnancy in one case and delivery in 151 cases.Death was found in 4 neonates and survival in 147 neonates.The survival rate was 97.4%(147/151).Conclusion The fetuses with PLSVC are highly risky at complication with other malformations.The simple PLSVC without risk factors is vascular variation.The risk of chromosomal abnormalities significantly increases when complicated with soft markers of chromosomal abnormalities or the structural deformity.