妇产科学
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持续性右侧脐静脉和奇点连续性与眼科和肺部畸形相关。特殊病例的产前诊断

西尔维·勒帕奇、泽维尔·卡佩尔、帕特里克·埃蒙特、弗雷德里克·克里德尔卡、玛丽-克里斯蒂娜·赛格哈耶和克里斯汀·范·林索特

我们报告了一个胎儿的病例，该胎儿在妊娠 22 周时进行产前超声检查，诊断出全身静脉回流双重异常，即持续性右脐静脉和奇点连续性下腔静脉发育不全。

胎儿还表现出巨大的脐疝和右侧小眼畸形。胎儿生长正常。通过核型和 CGH 阵列排除遗传异常。胎龄 39 周时进行剖腹产，臀位。新生儿适应得很好。产后检查证实产前诊断。8日龄时进行的胸腹部CT扫描显示右上叶支气管闭锁，右肺动脉相对发育不全，右肝叶萎缩。它还显示出腔静脉的短节段性膈下发育不全，伴有沿着同侧膈偶连接部运行的奇静脉扩张，排入上腔静脉和肠系膜血管错位，但没有任何肠旋转不良。胎儿主动脉和脐静脉的异常是胚胎早期静脉系统发育异常的结果，其病因尚不清楚。通常，异常的全身静脉回流仅影响一根血管。本例中所描述的双重异常的存在是例外的。

A persistent right umbilical vein is reported in 0.2 to 0.4% of antenatal screening. The variant with intrahepatic transition is the most frequent and isolated form. The exceptional, form with hepatic bypass, is commonly part of a polymalformative syndrome. Agenesis of the inferior vena cava (IVC) with azygos continuity is a rare anomaly (0,2-3% of antenatal screening). Its significance relates to its frequent association with complex congenital heart diseases. The prognosis of anomalies of cardinals and umbilical veins depends on the presence of associated cardiac and extra cardiac malformations that might impact prenatal counseling and parental decision to continue or interrupt pregnancy. Careful repeated pre and post-natal evaluation is necessary to exclude polymalformative syndrome despite of normal molecular genetic examination.