胎儿内脏异位综合征的诊断进展
详细信息    查看全文 | 推荐本文 |
摘要
<正>胎儿内脏异位综合征(heterotaxy syndrome,HS)是一种罕见的位于胸腹部左右轴向的内脏异常排列所致的紊乱综合征,不同于完全性内脏正位或反位,常伴有严重的心血管畸形和复杂的胸腹部脏器形态、结构和位置的异常[1],致残率、致死率极高,预后极差[2]。多模态影像学是近年兴起的一种新技术,研究应用较多的为肿瘤及脑血管疾病,将其与胎儿畸形筛查相联系前述报道较少。解剖铸型技术是解
        
引文
[1]Kurtulmus S,Demirpence S,Can Oztekin D,et al.Antenatal diagnosis of left atrial isomerism and heterotaxy syndrome in fetus with Meckel-Gruber syndrome[J].Turk Kardiyol Dern Ars,2014,42(2):182-185.
    [2]刘春洁,李婷婷,李奋,等.内脏异位综合征的临床特征及死亡危险因素分析[J].上海交通大学学报(医学版),2016,36(12):1 772-1 776.
    [3]Casey B.Two rights make a wrong:human left-right malformations[J].Hum Mol Genet,1998,7(10):1 565-1 571.
    [4]McGovern E,Kelleher E,Potts JE,et al.Predictors of poor outcome among children with heterotaxy syndrome:a retrospective review[J].Open heart,2016,3(2):e000328.
    [5]Niikawa N,Kohsaka S,Mizumoto M,et al.Familial clustering of situs inversus totalis,and asplenia and polysplenia syndromes[J].Am J Med Genet,1983,16(1):43-47.
    [6]Majeski JA,Upshur JK.Asplenia syndrome.A study of congenital anomalies in 16 cases[J].JAMA,1978,240(14):1 508-1 510.
    [7]Bartram U,Wirbelauer J,Speer CP.Heterotaxy syndrome-Asplenia and polysplenia as indicators of visceral malposition and complex congenital heart disease[J].Biol Neonate,2005,88(4):278-290.
    [8]Pepes S,Zidere V,Allan LD.Prenatal diagnosis of left atrial isomerism[J].Heart,2009,95(24):1 974-1977.
    [9]Catana A,Apostu AP.The determination factors of leftright asymmetry disorders-a short review[J].Clujul Med,2017,90(2):139-146.
    [10]安鹏,王瑜,刘雪兵,等.产前超声诊断胎儿右心房异构1例[J].中国医学影像技术,2017,33(S1):118-119.
    [11]Dilli A,Gultekin SS,Ayaz UY,et al.A rare variation of the heterotaxy syndrome[J].Case Rep Med,2012:840453.
    [12]Buca DIP,Khalil A,Rizzo G,et al.Outcome of prenatally diagnosed fetal heterotaxy:systematic review and meta-analysis[J].Ultrasound Obstet Gynecol,2018,51(3):323-330.
    [13]Nathan M,Emani S,IJsselhof R,et al.Mid-term outcomes in unbalanced complete atrioventricular septal defect:role of biventricular conversion from single-ventricle palliation[J].Eur J Cardiothoracic Surg,2017,52(3):565-572.
    [14]Carvalho JS,Allan LD,Chaoui R,et al.ISUOG Practice Guidelines(updated):sonographic screening examination of the fetal heart[J].Ultrasound Obstet Gynecol,2013,41(3):348-359.
    [15]李胜利,文华轩.中孕期胎儿系统超声检查切面及临床意义[J].中华医学超声杂志(电子版),2010,7(3):366-381.
    [16]李胜利,文华轩.中孕期胎儿系统超声检查切面及临床意义(续)[J].中华医学超声杂志(电子版),2010,7(4):617-643.
    [17]翁宗杰,刘敏,吴秋梅,等.胎儿右侧异构综合征产前超声与病理解剖及血管铸型的对照研究[J].中华超声影像学杂志,2017,26(10):845-849.
    [18]何晓琴,钟晓红.产前超声“节段分析法”诊断胎儿内脏异位综合征[J].中国临床医学影像杂志,2015,26(11):808-811.
    [19]林美芳,谢红宁,李岚,等.胎儿左、右侧异构综合征产前超声特征的对比研究[J].中华超声影像学杂志,2011,20(5):432-435.
    [20]吴明君,郭丹阳,刘畅,等.腹腔大血管关系异常与小儿内脏异位综合征及先天性心血管畸形的关系探讨[J].中国临床医学影像杂志,2016,27(7):475-477.
    [21]周金红.胎儿心脏超声智能导航技术在获取胎儿超声心动图基本切面主要诊断要素中的应用价值研究[D].杭州:浙江大学,2017.
    [22]王红鹄,杨军,韩舒,等.三血管及三血管气管切面在超声产前诊断胎儿心脏大血管畸形中的应用价值[J].中国临床医学影像杂志,2015,26(3):192-196.
    [23]Victoria T,Johnson AM,Edgar JC,et al.Comparison Between 1.5-T and 3-T MRI for Fetal Imaging:Is There an Advantage to Imaging With a Higher Field Strength?[J].AJR Am J Roentgenol,2016,206(1):195-201.
    [24]罗德清,陈欣林,朱霞,等.产前超声和MRI在诊断胎儿畸形中的应用[J].中国医学影像技术,2016,32(4):586-590.
    [25]董素贞,朱铭,李奋.胎儿先天性心脏畸形MRI诊断的研究进展[J].中华临床医师杂志(电子版),2012,6(22):7 302-7 304.
    [26]孙爱敏,钟玉敏,王谦,等.三维稳态自由进动成像技术对比传统MRI在先天性心脏病诊断中的应用价值[J].中华临床医师杂志(电子版),2012,6(22):7 161-7 164.
    [27]董素贞,朱铭,李奋,等.胎儿先天性心脏病MRI诊断的初步探讨[J].中华临床医师杂志(电子版),2012,6(22):7 156-7 160.
    [28]魏新红.正常胎儿肺体积及发育的MRI评估[D].济南:山东大学,2014.
    [29]Choi KS,Choi YH,Cheon JE,et al.Intestinal malrotation in patients with situs anomaly:Implication of the relative positions of the superior mesenteric artery and vein[J].Eur J Radiol,2016,85(10):1 695-1 700.
    [30]张岩,戴汝平,吕建华,等.右心房异构合并复杂心血管畸形的放射诊断[J].中华放射学杂志,1999,33(2):139-140.
    [31]王华.超声及320排CT诊断先天性心脏病的临床应用研究[D].郑州:郑州大学,2014.
    [32]Yoneyama H,Kondo C,Yamasaki A,et al.Comparison of situs ambiguous patterns between heterotaxy syndromes with polysplenia and asplenia[J].Eur J Radiol,2015,84(11):2 301-2 306.
    [33]Wolla CD,Hlavacek AM,Schoepf UJ,et al.Cardiovascular manifestations of heterotaxy and related situs abnormalities assessed with CT angiography[J].J Cardiovasc Comput Tomogr,2013,7(6):408-416.
    [34]范沙丽,刘晶哲,刘东,等.CT血管成像诊断先天性心脏病合并内脏异位[J].中国介入影像与治疗学,2017,14(3):155-158.
    [35]Stammes MA,Bugby SL,Porta T,et al.Modalities for image-and molecular-guided cancer surgery[J].Br JSurg,2018,105(2):e69-e83.
    [36]Hasan KM,Keser Z,Schulz PE,et al.Multimodal Advanced Imaging for Concussion[J].Neuroimaging Clin N Am,2018,28(1):31-42.
    [37]Pugash D,Brugger PC,Bettelheim D,et al.Prenatal ultrasound and fetal MRI:The comparative value of each modality in prenatal diagnosis[J].Eur J Radiol,2008,68(2):214-226.
    [38]石瑾,莫益萍,钟光明,等.胎儿及胎盘整体血管联合铸型标本的制作方法[J].中国临床解剖学杂志,2011,29(1):115-116.
    [39]Cook AC,Fagg NL,Allan LD.Use of casts in the necropsy diagnosis of fetal congenital heart disease[J].Br Heart J,1992,68(5):481-484.
    [40]王瑜.胎儿心脏大血管畸形铸型标本的制作及与产前超声诊断的对比研究[D].武汉:华中科技大学,2016.
    [41]Cao HY,Wang Y,Hong L,et al.Morphological features of complex congenital cardiovascular anomalies in fetuses:as evaluated by cast models[J].J Huazhong Univ Sci Technolog Med Sci,2017,37(4):596-604.
    [42]孔祥雪.新型人体肝脏铸型标本的数字化制造研究[D].广州:南方医科大学,2014.
    [43]Wang Y,Cao HY,Xie MX,et al.Cardiovascular cast model fabrication and casting effectiveness evaluation in fetus with severe congenital heart disease or normal heart[J].J Huazhong Univ Sci Technolog Med Sci,2016,36(2):259-264.
    [44]Degenhardt K,Rychik J.Fetal Situs,Isomerism,Heterotaxy Syndrome:Diagnostic Evaluation and Implication for Postnatal Management[J].Curr Treat Options Cardiovasc Med,2016,18(12):77.
    [45]Liu C,Cao R,Xu Y,et al.Rare copy number variants analysis identifies novel candidate genes in heterotaxy syndrome patients with congenital heart defects[J].Genome Med,2018,10(1):40.
    [46]Werner C,Onnebrink JG,Omran H.Diagnosis and management of primary ciliary dyskinesia[J].Cilia,2015,4(1):2.
    [47]Pennekamp P,Menchen T,Dworniczak B,et al.Situs inversus and ciliary abnormalities:20 years later,what is the connection?[J].Cilia,2015,4(1):1.
    [48]Alsoufi B,McCracken C,Schlosser B,et al.Outcomes of multistage palliation of infants with functional single ventricle and heterotaxy syndrome[J].J Thoracic Cardiovasc Surg,2016,151(5):1 369-1 377.

© 2004-2018 中国地质图书馆版权所有 京ICP备05064691号 京公网安备11010802017129号

地址:北京市海淀区学院路29号 邮编:100083

电话:办公室:(+86 10)66554848;文献借阅、咨询服务、科技查新:66554700