产前超声诊断泄殖腔外翻及产后病理对照分析

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

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。

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 January 2009 to August 2015,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： 7 had urinary malformation,9 had limb malformation,1 had hydrocephalus and ascites and pulmonary stenosis respectively.Fetal accessory structure anomalies： 10 had Single umbilical artery,3 had 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.