切换至 "中华医学电子期刊资源库"
高级检索
中华医学超声杂志（电子版）

中华医学超声杂志（电子版） ›› 2016, Vol. 13 ›› Issue (08) : 587 -592. doi: 10.3877/cma.j.issn.1672-6448.2016.08.007

所属专题： 文献；

妇产科超声影像学

产前超声诊断泄殖腔外翻及产后病理对照分析
杨小红1,†(), 戢秀勤1, 陈欣林1, 许杨青1, 朱向阳1, 赵胜1   
  1. 1. 430070　武汉，湖北省妇幼保健院超声诊断科
  • 收稿日期:2015-09-25 出版日期:2016-08-01
  • 通信作者: 杨小红
  • 基金资助:
    湖北省自然科学基金项目(2014CFB210)

Omphalocele exstrophy imperforate anus spinal defects complex prenatal ultrasound and autopsy findings

Xiaohong Yang1,†(), Xiuqin Ji1, Xinlin Chen1, Yangqing Xu1, Xiangyang Zhu1, Sheng Zhao1   

  1. 1. Department of Ultrasound Diagnosis, Hubei Maternity and Children′s Health Hospital, Wuhan 430070, China
  • Received:2015-09-25 Published:2016-08-01
  • Corresponding author: Xiaohong Yang
  • About author:
    Corresponding author: Yang Xiaohong, Email:
全文 ( ) 下载PDF ( ) 导出引用
引用本文：

杨小红, 戢秀勤, 陈欣林, 许杨青, 朱向阳, 赵胜. 产前超声诊断泄殖腔外翻及产后病理对照分析[J]. 中华医学超声杂志（电子版）, 2016, 13(08): 587-592.

Xiaohong Yang, Xiuqin Ji, Xinlin Chen, Yangqing Xu, Xiangyang Zhu, Sheng Zhao. Omphalocele exstrophy imperforate anus spinal defects complex prenatal ultrasound and autopsy findings[J]. Chinese Journal of Medical Ultrasound (Electronic Edition), 2016, 13(08): 587-592.

目的

探讨胎儿泄殖腔外翻综合征（OEIS）产前超声声像图特征。

方法

对2009年1月至2015年8月在湖北省妇幼保健院产前超声及产后病理检查证实为OEIS的19例胎儿（1例双胎的2个胎儿均为OEIS）超声声像图表现和病理特点进行分析。

结果

19例OEIS胎儿中单胎13例，多胎妊娠5例，试管婴儿1例。产前超声正确显示19例OEIS胎儿多种共有畸形：（1）无膀胱18例（误诊为小膀胱1例），1例有膀胱、无膀胱颈。（2）前腹壁缺损脏器外翻17例。（3）脊柱畸形18例。（4）外生殖器显示不清或异常18例。（5）合并肾脏畸形7例，合并肢体畸形9例；合并脑积水、腹腔积液、肺动脉狭窄各1例；合并胎儿附属结构异常包括单脐动脉10例，羊水量过少3例。

结论

OEIS是累及胎儿泌尿生殖、脊椎、消化、骨骼等多系统的严重畸形，超声检查时无膀胱显示、前腹壁缺损脏器外翻、脊柱畸形、外生殖器显示不清是产前超声诊断OEIS的特征性表现，产前系统超声检查和完整的病理解剖具有最终确诊OEIS的价值。

关键词: 超声检查，产前, 胎儿, 先天畸形, 病理学
Objective

To discuss the prenatal ultrasound findings of omphalocele, exstrophy, imperforate anus, spinal defects (OEIS) complex.

Methods

The ultrasound findings of nineteen cases with OEIS complex including two cases in a twin pregnancy, which diagnosed by autopsy from January2009to August2015, was analysed restropectively and compared with the anatomic finding by autopsy.

Results

There were thirteen singleton pregnance and five multiple pregnance including one case fertilized in vitro and transferred with embryo in those nineteen cases with OEIS complexded. Multiple malformations were shown in those nineteen cases by prenatal ultrasound including: (1) Non-visualized bladder in eighteen cases (one case being misdiagnosed as small bladder), one case with complete bladder without bladder neck. (2) Visceral sequestration in seventeen cases. (3) Spinal defects in eighteen cases. (4) External genitalia shown ambiguously or malformation in eighteen cases. (5) Accompanied malformation:7had urinary malformation,9had limb malformation,1had hydrocephalus and ascites and pulmonary stenosis respectively. Fetal accessory structure anomalies:10had Single umbilical artery,3had oligohydramnions.

Conclusions

OEIS complex includes genitourinary, spine, gastrointestinal tract, skeleton and other organs deformity. The main prenatal ultrasound findings of OEIS include non-visualized bladder, anterior wall defect, spinal defect, and ambiguous genitalia. The OEIS complex could be diagnosed with prenatal systematical ultrasound scan and comprehensive autopsy.

Key words: Ultrasonography, prenatal, Fetus, Congenital abnormalities, Pathology
图9 孕36＋3周OEIS引产胎儿大体标本"尿布区"畸形：无肛门，无外生殖器，脐膨出（红色箭头所示），外翻的膀胱被突出的中肠疝（黑色箭头所示）分为两半
表1 19例OEIS畸形胎儿产前异常超声表现
畸形种类 产前检出例数 超声表现 超声诊断
4种共有畸形 17 膀胱外翻，前腹壁缺损，脊柱畸形，外生殖器显示不清 OEIS13例，体蒂异常4例
2种共有畸形 1a 脊柱畸形，外生殖器显示不清；膀胱与肠管相通 尿直肠隔畸形序列征
无共有畸形 1b 膀胱小 膀胱小
表2 19例OEIS胎儿产前超声表现及产后病理诊断结果（例数）
检查方法 膀胱 脏器外翻 脊柱畸形 外生殖器 诊断
显示 不显示 脐膨出 腹裂 分不清 有 无 显示 显示不清 OEIS 体蒂异常 小膀胱 尿直肠隔畸形
超声检查 1 18 10 3 3 18 1 2 17 13 4 1 1
病理检查 1 18 19 0 0 19 0 0 19 19 0 0 0
[1]
Nakagawa M1, Hara M, Shibamoto Y. MRI findings in fetuses with an abdominal wall defect: gastroschisis, omphalocele, and cloacal exstrophy [J].Jpn J Radiol,2013,31(3):153-159.
[2]
Mallmann MR, Reutter H, Geipel A, et al. Early prenatal diagnosis of the OEIS complex with different appearance in early compared with late pregnancy before spontaneous rupture of the cloacal membrane [J].Prenat Diagn,2014,34(8):803-805.
[3]
Calvo-Garcia MA, Kline-Fath BM, Rubio EI, et al.Fetal MRI of cloacal exstrophy [J]. Pediatr Radiol,2013,43(5):593-604.
[4]
Phillips TM, Salmasi AH, Stec A, et al. Urological outcomes in the omphalocele exstrophy imperforate anus spinal defects (OEIS) complex: experience with80patients [J]. J Pediatr Urol,2013,9(3):353-358.
[5]
Yamano T, Ando K, Ishikura R, et al. Serial fetal magnetic resonance imaging of cloacal exstrophy [J].Jpn J Radiol,2011,29(9):656-659.
[6]
Della Monica M, Nazzaro A, Lonardo F, et al.Prenatal ultrasound diagnosis of cloacal exstrophy associated with myelocystocele complex by the′elephanttrunk-like′image and review of the literature [J].Prenat Diagn,2005,25(5):394-397.
[7]
Keppler-Noreuil K, Gorton S, Foo F, et al.Prenatal ascertainment of OEIS complex/cloacal exstrophy -15new cases and literature review [J].Am J Med Genet A,2007,143A(18):2122-2128.
[8]
Cervellione RM, Mantovani A, Gearhart J, et al.Prospective study on the incidence of bladder/cloacal exstrophy and epispadias in Europe [J]. J Pediatr Urol,2015,11(6):337.e1-6.
[9]
Lee DH, Cottrell JR, Sanders RC, et al. OEIS complex (omphalocele-exstrophy-imperforate anus-spinal defects) in monozygotic twins [J]. Am J Med Genet,1999,84(1):29-33.
[10]
Phillips TM. Spectrum of cloacal exstrophy [J]. Semin Pediatr Surg,2011,20(2):113-118.
[11]
Kosaki R, Fukuhara Y, Kosuga M, et al. OEIS complex with del(3) (q12.2q13.2) [J]. Am J Med Genet A,2005,135(2):224-226.
[12]
Wei X, Sulik KK. Pathogenesis of caudal dysgenesis/sirenomelia induced by ochratoxin A in chick embryos [J]. Teratology,1996,53(6):378-391.
[13]
杨小红,陈欣林,孙子燕,等.产前超声与MRI联合诊断泄殖腔外翻综合征一例及文献复习[J/CD].中华医学超声杂志:电子版,2010,7(10):1757-1761.
[14]
Hayashi S, Sago H, Kashima K, et al. Prenatal diagnosis of fetal hydrometrocolpos secondary to a cloacal anomaly by magneticresonance imaging [J]. Ultrasound Obstet Gynecol,2005,26(5):577-579.
[15]
袁岩,孟华,姜玉新,等.产前超声对胎儿体蒂异常的诊断价值[J].中华超声影像学杂志,2009(10):854-857.
[16]
Clements MB, Chalmers DJ, Meyers ML, et al.Prenatal diagnosis of cloacal exstrophy: a case report and review of the literature [J]. Urology,2014,83(5):1162-1164.
[17]
袁鹰,李胜利,文华轩,等.女性尿直肠隔畸形序列征产前超声表现[J/CD].中华医学超声杂志:电子版,2014,11(9):737-742.
[1] 武玺宁, 欧阳云淑, 张一休, 孟华, 徐钟慧, 张培培, 吕珂. 胎儿心脏超声检查在抗SSA/Ro-SSB/La抗体阳性妊娠管理中的应用[J]. 中华医学超声杂志（电子版）, 2023, 20(10): 1056-1060.
[2] 杨水华, 何桂丹, 覃桂灿, 梁蒙凤, 罗艳合, 李雪芹, 唐娟松. 胎儿孤立性完全型肺静脉异位引流的超声心动图特征及高分辨率血流联合时间-空间相关成像的应用[J]. 中华医学超声杂志（电子版）, 2023, 20(10): 1061-1067.
[3] 赵红娟, 赵博文, 潘美, 纪园园, 彭晓慧, 陈冉. 应用多普勒超声定量分析正常中晚孕期胎儿左心室收缩舒张时间指数[J]. 中华医学超声杂志（电子版）, 2023, 20(09): 951-958.
[4] 郏亚平, 曾书娥. 含鳞状细胞癌成分的乳腺化生性癌的超声与病理特征分析[J]. 中华医学超声杂志（电子版）, 2023, 20(08): 844-848.
[5] 张璟璟, 赵博文, 潘美, 彭晓慧, 毛彦恺, 潘陈可, 朱玲艳, 朱琳琳, 蓝秋晔. 胎儿超声心动图测量McGoon指数在评价胎儿肺血管发育中的应用[J]. 中华医学超声杂志（电子版）, 2023, 20(08): 860-865.
[6] 旺久, 陈军, 朱霞, 米玛央金, 赵胜, 陈欣林, 李建华, 王双. 山南市妇幼保健院开展胎儿系统超声筛查的效果分析[J]. 中华医学超声杂志（电子版）, 2023, 20(07): 728-733.
[7] 徐鹏, 李军, 高巍伦, 王峥, 庞珅, 李春妮, 朱霆. 快速旋转扫查法在胎儿超声心动图检查中的应用价值[J]. 中华医学超声杂志（电子版）, 2023, 20(07): 761-766.
[8] 谭芳, 杨娇娇, 沈玉琴, 李炎菲海, 王海蕊, 范思涵, 纪学芹. 胎儿心脏定量分析技术对正常胎儿心脏形态及收缩功能的评价[J]. 中华医学超声杂志（电子版）, 2023, 20(06): 598-604.
[9] 罗刚, 泮思林, 陈涛涛, 许茜, 纪志娴, 王思宝, 孙玲玉. 超声心动图在胎儿心脏介入治疗室间隔完整的肺动脉闭锁中的应用[J]. 中华医学超声杂志（电子版）, 2023, 20(06): 605-609.
[10] 黄佳, 石华, 张玉国, 胡佳琪, 陈茜. 胎儿左头臂静脉正常与异常超声图像特征及其临床意义[J]. 中华医学超声杂志（电子版）, 2023, 20(06): 610-617.
[11] 袁泽, 庄丽. 超声检测胎儿脐动脉和大脑中动脉血流对胎儿宫内窘迫的诊断价值[J]. 中华医学超声杂志（电子版）, 2023, 20(06): 618-621.
[12] 刘镭, 杨昕, 许晓华, 林胜谋, 熊初琴, 农丽录, 董振宇, 李胜利. 中孕期胎儿鼻前皮肤厚度及鼻骨长度筛查胎儿染色体病的临床价值[J]. 中华医学超声杂志（电子版）, 2023, 20(05): 506-510.
[13] 陈珊, 胡智强, 张月明, 唐定, 黎蒙, 赵帅. Orai1、Orai3在乳腺癌组织中的表达及与病理学指标的相关性分析[J]. 中华普外科手术学杂志(电子版), 2023, 17(05): 514-517.
[14] 萨仁高娃, 张英霞, 邓伟, 闫诺, 樊宁. 超声引导下鼠肝消融术后组织病理特征的变化规律及影响[J]. 中华消化病与影像杂志(电子版), 2023, 13(06): 394-398.
[15] 徐军, 姬园园, 陈君平, 王健. 伴菊形团结构的脑膜瘤合并颅骨侵犯一例并文献复习[J]. 中华临床医师杂志(电子版), 2023, 17(08): 916-919.
阅读次数
全文


摘要

版权所有 中华医学会 中华医学电子音像出版社有限责任公司  京ICP备14006079号-1  网络出版服务许可证：(署)网出证(京)字第075号