产前超声诊断早孕期泄殖腔外翻综合征

目的 探讨产前超声诊断早孕期泄殖腔外翻（OEIS）综合征的价值。方法 回顾性分析10胎OEIS综合征胎儿早孕期产前超声声像图特征,并与引产后尸体解剖结果相对照。结果 10胎OEIS综合征胎儿于低位下腹壁见以囊性为主的膨出物;10胎均见脊柱侧弯,3胎见脊柱骶尾段脊髓脊膜膨出。8胎膀胱未显示。5胎颈项透明层增厚,其中1胎合并颈部淋巴水囊肿。1胎合并双足内翻,1胎合并左下肢缺如。10胎均合并脐带过短,4胎合并单脐动脉,1胎合并脐带囊肿。引产后尸体解剖均可见下腹壁缺损、脏器外翻,但未见完整囊性膨出物;10具胎儿均可见耻骨联合分离、无肛门、无明显外生殖器并伴膀胱外翻。结论 胎儿下腹壁囊性为主的膨出物是早孕期OEIS综合征的特征性产前超声表现。     

泄殖腔外翻综合征前腹壁异常的产前超声诊断

目的总结胎儿泄殖腔外翻（OEIS）综合征前腹壁畸形产前超声声像图特征。 方法回顾性分析2008年1月至2017年3月湖北省妇幼保健院产前超声诊断的45例（46胎）OEIS综合征前腹壁异常胎儿超声声像图表现,并与引产胎儿标本尸检结果对比分析。 结果46胎OEIS综合征均经产后随访证实,26胎有详细的病理检查资料。OEIS综合征胎儿前腹壁畸形产前超声共同特点：胎儿膀胱未显影、低位的腹壁脐带插入处、胎儿下腹壁膨出物向胎儿两股骨间突起。根据膨出物特征46胎OEIS综合征胎儿产前超声声像图表现为5类畸形：（1）以囊性为主的混合性膨出物12胎。（2）脐下腹壁膨出物伴外翻22胎,伴象鼻征13胎。（3）下腹壁脐带根部膨出6胎。（4）大的腹裂畸形3胎。（5）脐膨出伴外翻3胎。 结论OEIS综合征胎儿前腹壁异常超声声像图表现复杂、多样,以囊性为主的混合性膨出物为OEIS综合征早期特有的超声表现,脐下腹壁膨出物伴外翻是OEIS综合征产前特征性表现。     

产前超声联合磁共振成像诊断胎儿膀胱外翻

目的总结胎儿膀胱外翻（BE）产前超声（US）及磁共振成像（MRI）影像特征。 方法对2013年2月至2017年12月在湖北省妇幼保健院产前超声联合MRI诊断并经产后病理检查确诊为膀胱外翻4例（3例单胎为自然受孕,1例双胎为人工受孕）胎儿的超声影像表现进行总结。 结果4例胎儿产前超声显示共有的异常声像表现为：盆腔内膀胱未显示,脐带低置,耻骨联合分离,性别难以确定,羊水量正常;其中1例双胎之一合并右肾缺如伴脐带插入处下方膨出物,1例疑诊脊髓栓系。4例胎儿产前MRI显示与超声相同的异常影像表现,但4例耻骨联合分离均未显示,排除了超声疑诊脊髓栓系。与引产后X线及病理检查结果对照,产前MRI补充检出超声未显示的腹壁缺损4例,且较超声多检出下腹部肿块凸出3例。超声与MRI联合检查正确诊断胎儿膀胱外翻4例。盆（腹）腔内无膀胱显示,下腹壁缺损伴包块突出,脐带低置,耻骨联合分离,外生殖器畸形,肾脏和羊水量正常为产前超声及MRI诊断胎儿膀胱外翻的主要线索。 结论产前超声与MRI联合检查有利于明确诊断膀胱外翻,避免漏诊。     

泄殖腔外翻脊柱畸形的产前超声诊断

目的 探讨产前超声诊断泄殖腔外翻（OEIS综合征）脊柱畸形的价值。方法 收集我院经尸体解剖确诊的29胎OEIS综合征脊柱畸形,分析OEIS综合征脊柱畸形的产前超声声像图,并与产后尸体解剖检查、尸体X线表现进行对照研究。结果 尸体解剖检查证实29胎OEIS脊柱畸形均为闭合性脊柱裂,其中26胎经产前超声检出。24胎有包块型脊柱裂均发生于骶尾部,其中9胎脊膜膨出,12胎脊髓脊膜膨出,3胎脂肪脊髓脊膜膨出;16胎合并脊髓栓系、11胎合并脊柱侧弯、3胎骶尾椎发育不良、4胎合并椎体畸形;2胎包块较大脊柱裂的颅后窝消失。2胎无包块型脊柱裂的产前超声显示存在脊髓栓系。尸体解剖检查证实产前超声所见,发现漏诊3胎有脊髓栓系的无包块型脊柱裂。尸体解剖检查及尸体X线发现29胎均有骶尾椎发育不良。结论 OEIS综合征脊柱畸形常为骶尾部有包块型闭合型脊柱裂,颅脑声像多正常,可合并脊髓栓系、脊柱侧弯、椎体异常。产前超声对OEIS综合征有包块型脊柱裂的检出率高;OEIS综合征无包块型脊柱裂的产前超声可检出脊髓栓系。     

产前超声诊断胎儿膀胱外翻1例

孕妇,31岁,孕1产0,孕30周,孕30周前未行任何超声检查。现产前系统超声检查:胎儿臀位,于胎儿正中矢状切面、腹盆腔横切面及冠状面见胎儿下腹壁正常弧形连续性消失,脐带腹壁插入位置较低,其下方见一大小为1.82 cm×1.58 cm的等回声突起,双侧脐动脉之间无膀胱显示(图1,2),胎儿外生殖器声像图特征不典型,余胎儿脏器及附属物均正常,胎儿生长参数与孕周符合。超声提示:胎儿膀胱外翻。后引产一女死婴,大体标本示胎儿下腹壁缺损,脐带低置,膀胱外翻,耻骨联合分离,阴蒂分离,大阴唇增厚,小阴唇缺失(图3)。     

胎儿体蒂异常的产前超声诊断

目的探讨产前超声诊断胎儿体蒂异常的价值。方法回顾性分析本院产前超声诊断的11例胎儿体蒂异常超声声像图特点及随访结果。结果 11例胎儿均存在腹壁缺损及脐带异常,8例合并脊柱异常(包括脊柱侧后弯,甚至成角弯曲),7例合并内脏器官外翻,6例合并肢体异常,10例分别合并其他异常如心脏、颅面及泌尿系统畸形等。结论产前超声检查是诊断胎儿体蒂异常的可靠方法,具重要临床价值。     

产前超声诊断胎儿膀胱外翻

目的总结产前诊断胎儿膀胱外翻的声像图特点,提高对该疾病的认识,减少漏诊和误诊。方法回顾性分析7例胎儿膀胱外翻的产前超声图像,并与引产结果进行对比。结果膀胱外翻的产前超声图像特点是胎儿双肾正常,羊水量充足,但动态观察盆腔内未显示正常充盈的膀胱。有时可发现下腹壁缺损和向外膨出的包块,此时腹壁脐带入口偏低。另外,膀胱外翻常合并生殖器的异常。结论膀胱外翻作为一种罕见的先天性畸形,产前超声对其诊断具有非常重要的价值。当胎儿双肾正常,羊水量充足时,动态观察盆腔内无正常充盈的膀胱应引起足够重视,避免漏诊和误诊。     

多胎妊娠中胎儿泄殖腔外翻综合征的产前超声诊断价值

目的分析总结多胎妊娠中泄殖腔外翻综合征(即OEIS综合征)的产前超声特征;探讨产前超声在多胎妊娠中对OEIS综合征的诊断价值。方法回顾分析总结尸体解剖确诊的5例孕妇(4例双胎和1例三胎)腹中6个OEIS综合征的胎儿产前超声声像图表现,并将产前超声与产后尸体解剖结果对照。结果产前超声正确诊断3个OEIS综合征胎儿,由于合并脐膨出的包膜破裂、脐带短、脊柱侧弯等畸形,产前超声把3个OEIS综合征胎儿误诊为体蒂异常。结论多胎妊娠中,OEIS综合征产前超声有特征性表现,产前超声对OEIS综合征有重要的诊断意义。     

产前超声检查对妊娠11~13+6周胎儿体蒂异常的诊断价值分析

摘要 目的 探讨产前超声对妊娠11~13+6周胎儿体蒂异常的诊断价值。方法 回顾性分析2016年1月至2020年1月四川省妇幼保健院产前超声诊断的19例妊娠11~13+6周胎儿体蒂异常的超声声像图特征及其随访结果。结果 19例体蒂异常的胎儿（单胎16例，双胎3例）均有不同程度的胸腹壁缺损、内脏外翻和脊柱发育异常，其中脐带异常18例,肢体发育异常9例，露脑畸形2例，静脉导管异常9例，颈部透明层增厚2例，颈部水囊瘤3例，腹腔囊性占位2例，泄殖腔发育异常1例，巨膀胱1例，门体分流1例。结论 产前超声检查对胎儿体蒂异常的早期诊断和临床处理具有重要诊断价值。     

胎儿马蹄肾产前超声多切面扫查及动态观察与图像分析

目的探讨胎儿马蹄肾的产前超声声像图特征。 方法2010年1月至2013年12月在重庆市人口和计划生育科学技术研究院附属医院行产前系统超声检查的胎儿12 021例,经多切面扫查及动态观察诊断马蹄肾15例（0.12%,15/12 021）,与产后超声或MRI复查、尸检和临床随访结果对照,对15例马蹄肾胎儿产前超声声像图特征进行分析。 结果15例胎儿首次超声扫查检出马蹄肾6例,间隔4~6周后复查补充检出马蹄肾9例。15例马蹄肾胎儿矢状切面扫查显示10例双肾位置较正常胎儿肾脏偏低、肾下极边界模糊;横切面连续扫查显示15例双肾下极均于脊柱前方融合呈特征性"马蹄"状;冠状切面连续扫查至脊柱前方均直观显示双肾下极融合。15例马蹄肾胎儿超声检查后出生11例,男性7例（伴发隐睾1例）、女性4例,产后超声（6例）及MRI复查（5例）均证实为马蹄肾,无肾外畸形;1例马蹄肾胎儿为18-三体综合征;其余3例均合并肾外畸形,超声检查后均终止妊娠;1例合并心脏室间隔缺损,染色体检查为21-三体综合征,2例合并肾外畸形（开放性脊柱裂和足内翻,尸检证实合并水平肝1例;生殖器畸形1例）,染色体检查无异常。 结论产前超声多切面扫查及动态观察结合染色体检查可及早发现胎儿马蹄肾及其合并畸形,以减少多发畸形胎儿的出生。     

OEIS complex: prenatal ultrasound and autopsy findings.

OBJECTIVE: To describe prenatal ultrasound and autopsy findings in fetuses with OEIS (omphalocele, bladder exstrophy, imperforate anus, spina bifida) complex. METHODS: This was a retrospective study of the nine cases with OEIS complex diagnosed at our center using detailed fetal ultrasound during the last 10 years. We summarized the fetal ultrasound findings that led to the diagnosis and compared them with the autopsy results. RESULTS: All affected fetuses were diagnosed using detailed fetal ultrasound after 16 weeks' gestation. The main prenatal findings were omphalocele, skin-covered lumbosacral neural tube defect, non-visualized bladder and limb defects. Prenatal sonography failed to detect the abnormal genitalia, bladder exstrophy and anal atresia. All cases had abnormalities in a 'diaper distribution', which helped in making the prenatal diagnosis. Eight of the nine couples chose to terminate the pregnancies following multidisciplinary counseling. The pregnancy that was continued was a case with dizygotic twins discordant for OEIS, and the affected fetus died in utero. CONCLUSIONS: The combination of the following ultrasound findings: ventral wall defect, spinal defect and a non-visualized bladder with or without limb defects, are characteristic of OEIS complex. Diagnosis can be made with confidence as early as 16 weeks' gestation, although earlier diagnosis may be possible.     

泄殖腔外翻畸形产前超声特征及文献复习

目的 探讨胎儿泄殖腔外翻的产前超声特征。方法 回顾性分析12胎确诊泄殖腔外翻胎儿的产前超声资料、引产/生产结果,观察泄殖腔外翻畸形的超声特征,并与病理对照。结果 超声显示脐膨出11胎,膀胱未显示8胎,肛门闭锁8胎,神经管缺陷（骶尾骨包块或椎骨缺失）7胎;主要伴发异常包括下肢畸形2胎,肾脏异常5胎,外生殖器辨别不清9胎,生长发育迟缓1胎,心脏异常2胎,消化道异常2胎,单脐动脉1胎,颈后透明层增厚合并脑积水1胎。结论 产前超声发现脐膨出、膀胱不显示、外生殖器辨别不清等征象时,应考虑胎儿泄殖腔外翻畸形。     

Correlation of prenatal ultrasound diagnosis and pathologic findings in fetal brain abnormalities.

OBJECTIVE: To determine the degree of agreement between prenatal ultrasound diagnosis of brain abnormalities and subsequent pathologic findings. METHODS: Between August 1993 and August 1999 there were 62 cases where a fetus with a prenatal ultrasound diagnosis of a brain abnormality other than neural tube defects underwent autopsy at the Regional Department of Pediatric Pathology. The cerebral diagnosis at ultrasound was compared with the findings at autopsy in all cases. RESULTS: In 47 of 61 (77%) cases the same defects were seen on ultrasound and at autopsy. The most common disparity was with the Dandy-Walker malformation or variant, where only six of the 14 (43%) cases prenatally diagnosed with this condition showed the same abnormality at autopsy. When fetuses with the Dandy-Walker malformation or variant were excluded, the scan findings correlated with autopsy in 41 of 47 (87%). In the main group with discordant findings, five of the seven cases where termination of pregnancy was undertaken had other fetal anomalies on ultrasound examination which were confirmed at autopsy. In the sixth case there was autolysis of brain tissue which affected detailed autopsy. CONCLUSIONS: A very high level of agreement between prenatal ultrasound and autopsy findings was found for all abnormalities of the fetal brain, except for the Dandy-Walker malformation or variant. Potential discrepancy in findings between ultrasound and autopsy should be explained to patients who are considering termination of pregnancy for the Dandy-Walker type of abnormality.     

Using color Doppler sonography to identify the perivesical umbilical arteries: a useful method in the prenatal diagnosis of omphalocele-exstrophy-imperforate anus-spinal defects complex.

OBJECTIVE: To describe the different prenatal sonographic findings in 3 cases of omphalocele-exstrophy-imperforate anus-spinal defects (OEIS) complex, or cloacal exstrophy. METHODS: Three patients with OEIS complex were examined by sonography. In 2 (cases 2 and 3) of the 3 cases, color Doppler sonography was applied to the area of cord insertion and the abdominal mass to determine the origin of the abdominal mass. RESULTS: Three cases of OEIS complex with different sonographic appearances are included in this series. An absent bladder without an abdominal mass but with bowel floating in the amniotic cavity was revealed in case 1; an absent bladder with a lower anterior abdominal mass was found in the second trimester in case 2; and a large cystlike mass located in the anterior abdominal wall was found in case 3. Color Doppler imaging showed that the abdominal mass originated from the urinary bladder in cases 2 and 3; therefore, OEIS complex was presumptively diagnosed antenatally in these cases. In all cases, OEIS complex was confirmed postnatally. CONCLUSIONS: Omphalocele-exstrophy-imperforate anus-spinal defects complex should be considered in patients with an absent bladder combined with either an anterior abdominal wall mass or defects. Special attention should be given to search for other combined anomalies. We suggest that color Doppler sonography for identifying the perivesical umbilical arteries is a very useful method in establishing of the diagnosis of OEIS complex.     

MRI在胎儿脊柱脊髓畸形诊断中的应用及序列选择

目的 探讨MRI在胎儿脊髓脊柱畸形诊断中的价值及序列选择。方法 回顾性分析产前超声筛查疑诊胎儿脊柱脊髓异常且48小时内行MRI针对性脊柱检查30例胎儿资料，并分别与产后（生产或引产）6个月内的随访结果（影像、手术或尸检）对照， 对比MRI与超声诊断符合率及不同病变的MRI序列选择。 结果 阴性7例，椎体畸形（裂椎、半椎体、分隔不全、骶尾椎发育不全）15例，脊髓低位5例，脊髓脊膜膨出3例，脊髓空洞1例，脊髓纵裂2例，其中脊柱脊髓复合畸形4例，伴单侧肾积水1例。产前MRI诊断与随访结果完全一致，产前超声漏诊椎体畸形2例，漏诊脊髓低位4例，漏诊脊膜膨出、脊髓空洞及纵裂各1例。结论 MRI Haste及Trufi在显示胎儿脊髓及椎管内异常中有较高的准确性，而SWI对显示椎体畸形有独特价值。     

尾部退化综合征产前超声诊断并文献复习

目的探讨尾部退化综合征的产前超声图像特征。方法对3例拟诊断为尾部退化综合征胎儿行系统产前超声检查,1例产前行MRI,总结尾部退化综合征产前超声图像特征,与MRI、引产后的X线及病理解剖结果进行对比研究,并对尾部退化综合征产前诊断相关文献进行回顾分析。结果尾部退化综合征产前超声表现取决于骶尾部病变的范围及严重程度。典型的超声图像特征为胎儿骶骨缺失,两侧髂骨翼靠得很近,呈特征性的"盾牌征",多合并椎骨和下肢异常,脊柱的连续性发生突然的中断,双下肢"青蛙征"和双脚姿势异常。产前MRI未提供更多的信息,此例失访。另外2例终止妊娠后,标本行X线检查及病理解剖,证实产前超声诊断。结论尾部退化综合征具有特征性的超声表现,产前应与并腿畸形、开放性脊柱裂和半椎体相鉴别。     

女性尿直肠隔畸形序列征产前超声表现

目的总结分析胎儿尿直肠隔畸形序列征产前超声声像图及引产胎儿尸检特征。方法对2003年1月至2012年12月在南方医科大学附属深圳市妇幼保健院产前超声诊断的11例尿直肠隔畸形序列征胎儿超声图像表现和产后尸检特点进行总结分析。结果 11例尿直肠隔畸形序列征胎儿产前超声均显示腹腔内巨大囊性包块（双房或单房囊性结构2例,三房囊性结构9例,囊内透声清亮3例,囊内透声浑浊8例）和肛门闭锁,其中7例肾脏异常,6例伴腹腔积液;3例可见肠石症;伴发其他系统畸形包括脊髓栓系2例、单脐动脉2例、脐带囊肿2例、骶尾部发育不良1例、心肌致密化不全1例。染色体检查发现21-三体1例。引产胎儿标本尸检证实11例均为女性,有单个会阴开口,外生殖器性别不清楚,阴蒂肥大及阴唇融合;内生殖器异常包括双阴道或阴道纵隔9例,双子宫或双角子宫10例,阴道发育不良1例。结论尿直肠隔畸形序列征是一种包括泌尿系统、生殖系统、胃肠道异常的复杂先天畸形,腹腔内囊性包块是女性尿直肠隔畸形序列征的特征改变,具有重要诊断价值,产前超声发现肾脏异常及外生殖器性别不清楚有助于诊断尿直肠隔畸形序列征。