静脉导管缺失胎儿的临床特征及围产期预后:84例分析  

Clinical features and perinatal prognosis in fetuses with absence of ductus venosus:an analysis of 84 cases

作　　者：姚光辉 杨娟[2] 魏振玲[2] 任淑敏[1] 吴庆华[1] Yao Guanghui;Yang Juan;Wei Zhenling;Ren Shumin;Wu Qinghua(Center of Genetics and Prenatal Diagnosis,the First Affiliated Hospital of Zhengzhou University.Zhengzhou 450052,China;Department of Ultrasonography,the First Affiliated Hospital of Zhengzhou University,Zhengzhou 450052,China)

机构地区：[1]郑州大学第一附属医院遗传与产前诊断中心,郑州450052 [2]郑州大学第一附属医院超声科,郑州450052

出　　处：《中华围产医学杂志》2024年第8期668-673,共6页Chinese Journal of Perinatal Medicine

摘　　要：目的总结静脉导管缺失(absence of ductus venosus,ADV)胎儿的超声特征、遗传学病因及围产期预后。方法回顾性纳入2017年6月至2022年7月在郑州大学第一附属医院行产前超声检查并诊断为胎儿ADV的孕妇84例(均为单胎妊娠)。根据产前胎儿超声异常情况,分为孤立性ADV组(37例)、ADV合并超声软指标组(9例)以及ADV合并明确超声异常组(38例)。按ADV初次诊断的孕周分为早孕期组(11~13周+6)17例、中孕期组(14~27周+6)45例和晚孕期组(≥28周)22例。根据脐静脉腹内段血流走向,分为脐静脉直接进门静脉窦组(75例)、肝内脐静脉异常分流组(4例)和脐静脉肝外分流组(5例)。总结并比较各组的临床特点,采用χ^(2)检验、趋势χ^(2)检验、Fisher精确概率法和Bonferroni校正进行统计学分析。结果84例ADV胎儿常见的明确超声异常依次为心脏异常(27.4%,23/84)、水囊瘤(10.7%,9/84)、胎儿水肿(9.5%,8/84)和体腔积液(8.3%,7/84)等。早、中和晚孕期检出胎儿ADV组合并明确超声异常的比例分别为16/17、44.4%(20/45)和9.1%(2/22),检出ADV孕周越早,合并明确超声异常的比例越高(χ^(2)趋势=27.25,P<0.001)。其中21例行染色体核型分析和/或染色体拷贝数变异测序,或扩展性无创产前检测,检出5例异常,分别为45,X、13-三体、22-三体嵌合,7-三体嵌合及22q12.3q13.3314 Mb重复。早、中和晚孕期检出胎儿ADV组新生儿期(生后28 d)存活率逐渐升高,分别为1/17、43.9%(18/41)和90.5%(19/21)(χ^(2)趋势=27.04,P<0.001)。孤立性ADV、合并超声软指标组的新生儿期存活率均高于合并明确超声异常组[93.9%(31/33)和6/9与2.7%(1/37),Bonferroni校正,P值均<0.001]。脐静脉直接进门静脉窦组、肝内脐静脉异常分流组和脐静脉肝外分流组的新生儿期存活率分别为50.0%(35/70)、0/4和1/5,差异无统计学意义(Fisher精确概率法,P=0.105)。结论胎儿ADV检出时间越早,越可能合并明确超声异常,新生儿期�Objective To summarize the ultrasonographic characteristics,genetic etiology,and perinatal prognosis of fetuses with absence of ductus venosus(ADV).MethodsA retrospective study enrolled 84 singleton pregnancies that underwent prenatal ultrasound examination and were diagnosed with fetal ADV at the First Affiliated Hospital of Zhengzhou University from June 2017 to July 2022.Based on prenatal ultrasonographic findings,the cases were divided into isolated ADV group(n=37),ADV with ultrasound soft markers group(n=9),and ADV with definite ultrasound abnormalities group(n=38).According to the gestational age at the initial diagnosis of ADV,they were categorized into early pregnancy group(11-13 weeks of 6 days)with 17 cases,mid-pregnancy group(14-27 weeks of 6 days)with 45 cases,and late pregnancy group(≥28 weeks)with 22 cases.Depending on the direction of blood flow in the intra-abdominal segment of the umbilical vein,they were classified into umbilical vein directly entering the portal sinus group(n=75),intrahepatic umbilical vein abnormal shunt group(n=4),and extrahepatic umbilical vein shunt group(n=5).The clinical characteristics of each group were summarized,and compared using the Chi-square,trend Chi-square tests,Fisher's exact test and Bonferroni correction test.ResultsThe common ultrasonographic abnormalities in the 84 cases of ADV fetuses were cardiac anomalies(27.4%,23/84),cystic hygroma(10.7%,9/84),fetal hydrops(9.5%,8/84),and body cavity effusion(8.3%,7/84).The proportions of fetuses with ADV and definite ultrasound abnormalities detected in the early,mid,and late pregnancy were 16/17,44.4%(20/45),and 9.1%(2/22),respectively,with a higher proportion of definite ultrasound abnormalities associated with earlier detection of ADV(χ^(2) trend=27.25,P<0.001).Among them,21 cases underwent chromosomal karyotyping and/or chromosomal copy number variation sequencing or expanded non-invasive prenatal testing,with five abnormalities detected,including 45,X,trisomy 13,trisomy 22 mosaicism,trisomy 7 mosaicism,and a 14

关 键 词：静脉导管缺失 产前诊断 妊娠结局 染色体疾病 

分 类 号：R714.5[医药卫生—妇产科学]