摘要：
目的 总结胎儿下腔静脉畸形的二维超声、空间－时间相关成像(STIC)及血管铸型特点,分析胎儿下腔静脉畸形的临床特点及预后,探讨胎儿下腔静脉畸形的胎儿超声心动图早期诊断价值.方法 回顾性分析2013年1月至2018年1月在北京安贞医院母胎医学会诊中心行胎儿超声心动图检查诊断为下腔静脉畸形的胎儿共61例.总结临床资料、超声心动图特征、遗传学检测及预后结果.结果 ①61例胎儿中,下腔静脉缺如51例,肝段缺如46例,左位下腔静脉肝段缺如5例;左位下腔静脉9例(包括左位下腔静脉并下腔静脉肝段缺如5例) ;双下腔静脉5例;回流入右肝静脉1例.②61例胎儿中, 10例为单纯下腔静脉畸形,不合并其他畸形.合并其他静脉畸形包括:右上腔静脉缺如及永存左上腔静脉7例,静脉导管缺如2例,持续性右脐静脉3例,其中2例单纯合并右脐静脉; 49例合并心内结构畸形及心律失常.③38例孕妇行唐氏筛查或者无创DNA检测,均为低风险, 4例行羊水穿刺未见异常.其中16例引产后行尸检及全基因组测序,1例为单基因异常(ZFPM 2经典突变) .④20例胎儿采集了ST IC图像,19例显示满意.⑤4例下腔静脉肝段缺如行血管铸型,可立体清楚地显示血管走形.⑥11例胎儿出生,超声证实产前诊断,随诊患儿一般状况良好; 16例胎儿引产; 33例胎儿失随访;1例胎儿出生后死亡(心律失常).结论 胎儿超声心动图结合STIC技术可以明确诊断下腔静脉异常,血管铸型可以立体直观地显示下腔静脉异常,单纯下腔静脉畸形预后良好.%Objective To summarize the characteristics of two‐dimensional ( 2D ) ultrasound , spatiotemporal imaging correlation ( ST IC ) and vascular casting of fetal inferior vena cava ( IVC ) malformations ,analyze the clinical characteristics and the prognosis of fetal IVC malformations ,and explore the early diagnostic value of fetal echocardiography for fetal IVC malformations . Methods Sixty‐one cases of fetal IVC malformation diagnosed by fetal echocardiography in Beijing Anzhen Hospital M aternal Fetal M edical Consultation Center were retrospectively analyzed . T he clinical data ,echocardiographic features , genetic testing information and prognosis were summarized . Results ① In the 61 cases of IVC malformation ,there were 51 cases of absence of IVC ,46 cases of absence of liver segment ,5 cases of absence of left IVC hepatic segment ,9 cases of left IVC ( including 5 cases of left IVC and absence of IVC hepatic segment) ,5 cases of double IVC ,and 1 case of right hepatic vein reflux . ② Ten fetuses of the 61 fetuses were simple IVC deformity without any other malformations . O ther venous malformations included 7 cases of absence of right superior vena cava and persistent left superior venacava , 2 cases of absence of venous catheters ,and 3 cases of persistent right umbilical vein ,2 cases were merged alone ; 49 cases were merged with intracardiac structural malformations and arrhythmia . ③ T hirty‐eight pregnant women underwent Down′s screening or non‐invasive DNA ,all of which were at low risk .Four cases underwent amniocentesis , and no obviously abnormality was found . Sixteen cases underwent autopsy and genome sequencing after induced labor , one was single gene abnormalities ( ZFPM 2 classical mutation ) . ④ STIC images were collected in 20 cases ,and 19 cases were clearly visualized . ⑤Vascular cast was made to show the shape of blood vessel more clearly and stereoscopically in 4 cases of absent hepatic segment of IVC . ⑥Eleven fetuses were born and confirmed from the results of postnatal ultrasound ,w ho were healthy in follow‐up ; 16 fetuses were induced labor ; 33 fetuses were losed during follow‐up ; 1 fetus died after birth ( arrhythmia ) . Conclusions Fetal echocardiography combined with STIC technology can clearly diagnose the anomalies of IVC . Vascular casting can provide stereoscopic and visual manifestations of the anomalies of IVC . The prognosis of simple anomalies of IVC is good .
