胎儿胼胝体发育不全的超声诊断及临床分析

目的 探讨胎儿胼胝体发育不全(agenesis of corpus callosum,ACC)的超声特点、合并的颅内外畸形、染色体及预后状况.方法 回顾性分析我院2008年1月～2011年4月产前超声诊断为胎儿ACC的胎儿共36例.结果 超声诊断为胎儿ACC 36例,其中19例合并其他部位畸形;4例孕妇行核磁共振检查,其结果与超声诊断一致;31例行唐氏筛查,16例为唐氏高风险;12例行染色体检查,1例18-三体综合征,1例9号臂间倒位核型(inv 9).随访结果中,29例进行了引产,4例出生,3例失访.结论 胎儿ACC常合并其他部位的畸形,产前超声检查能够为胎儿ACC作出初步诊断,当超声不能明确诊断时,MRI可以作为辅助检查方法,为制定适合的决策提供依据.     

胎儿Dandy-Walker畸形的产前超声诊断

目的研究产前超声检查在胎儿Dandy-Walker 畸形诊断中的价值.方法回顾性总结5例胎儿Dandy-Walker 畸形的超声表现,以及相关的胎儿中枢神经系统(CNS)和CNS外畸形.结果 5例胎儿产前超声检查均可见Dandy-Walker 畸形的典型超声表现,其中4例伴发CNS外畸形.结论产前超声检查可以有效检出胎儿Dandy-Walker 畸形.     

产前三维超声TUI技术对胎儿胼胝体发育不全的诊断价值

目的 分析三维断层超声显像技术(tomographic ultrasound imaging,TUI)在胎儿胼胝体发育不全(agenesis of the corpus callosum,ACC)中的图像特征,评价TUI诊断胎儿胼胝体发育不全的价值.方法 应用TUI对34例二维可疑ACC的三维容积数据进行后处理分析,获得显示胼胝体最好的胎头正中矢状切面,并将结果与二维超声结果进行比较.结果 TUI技术对ACC的显示率为97.0％ (33/34);二维超声对ACC的显示率为52.9％ (18/34),二者的显示率差别有统计意义(P＜0.05).结论 三维超声TUI技术在胎儿ACC的产前诊断上具有较高的应用价值.     

磁共振与超声诊断胎儿胼胝体发育不全的对比

目的 探讨MR和超声(US)对胎儿胼胝体发育不全(ACC)的产前诊断价值。方法 US提示胎儿颅内异常孕妇32例,均在US检查后1天内接受胎儿MR检查,对出生或引产胎儿行影像学检查及尸检,并与产前US、MR结果对照,评价US和MR检查的诊断准确率。结果 32胎US检出颅脑发育异常胎儿中,MR诊断为ACC 32胎(包括完全型ACC 26胎,部分型ACC 6胎)。MR与US比较,诊断胎儿ACC一致者 17胎;US可疑ACC 6胎、未发现ACC 9胎,这15胎MR均肯定ACC。单纯ACC 18胎, ACC伴发其他畸形14胎;对于其他伴发畸形, MR发现伴发畸形多于 US为8胎,2胎伴发畸形MR诊断与引产后病理不符。 结论 MR有助于明确诊断胎儿 ACC 并判断其分型及伴发畸形,可作为US有利的补充及验证手段。     

胎儿肢体畸形28例超声诊断分析

目的探讨产前超声检查对胎儿肢体畸形的诊断价值。方法对28例肢体畸形胎儿的产前超声图文资料进行回顾分析。结果产前超声诊断胎儿肢体畸形15例,漏诊13例,检出率53.57%。产前超声对全身性骨发育不良(软骨发育不全、成骨发育不全)和肢体局部畸形(肢体缺失、先天性马蹄足内翻、指趾畸形)的诊断符合率分别为85.7%和42.86%。结论产前超声检查对胎儿肢体畸形的诊断准确性较高,是产前诊断胎儿肢体畸形的主要手段。     

产前超声诊断胎儿唇裂的价值

目的 探讨胎儿唇裂的超声表现及超声产前诊断胎儿唇裂的价值.方法 回顾性分析近10年我院超声产前检查发现的唇裂胎儿104例(包括漏诊3例)的超声及临床资料.结果 104例胎儿中单纯唇裂75例,合并其他畸形29例,其中单一系统畸形16例,多系统畸形13例,涉及的畸形包括神经、骨骼、泌尿、呼吸及消化系统.25例行染色体检查发现13-三体综合征和18-三体综合征各1例.其中对22例行胎儿颜面部三维成像,14例效果较好.结论 对于唇结构可显示的胎儿,产前超声尤其二维超声能够准确检出胎儿唇裂,诊断唇裂时要注意合并其他畸形.     

产前超声诊断胎儿畸形56例分析

目的探讨产前超声检查诊断胎儿畸形的价值.方法回顾性分析56例先天性胎儿畸形的产前超声图像.结果 56例胎儿畸形中,产前超声诊断47例,漏诊9例.中枢神经系统畸形如无脑儿、脑积水、脊柱裂、脑脊膜膨出及消化系统畸形、胎儿水肿综合征、颈部淋巴水囊瘤、骨骼发育不全等产前诊断符合率较高,而生殖道畸形及指趾畸形极容易漏诊.结论超声检查是产前筛查胎儿畸形的首选方法.     

产前超声诊断胎儿永存左上腔静脉中的价值

目的 探讨胎儿期永存左上腔静脉声像图特征及临床应用价值.方法 应用胎儿超声心动图检查3368例胎儿,检出31例胎儿永存左上腔静脉及相关畸形.结果 胎儿超声心动图显示,31例胎儿中30例合并冠状静脉窦扩张,14例合并其他心血管异常,6例合并心外畸形,4例同时合并心内外畸形.结论 永存左上腔静脉常合并先天性心脏病,胎儿预后取决于有无合并其他先天性心脏病,产前诊断永存左上腔静脉可帮助正确评估胎儿预后.     

胎儿胼胝体发育不良的超声和磁共振对比观察

目的 探讨超声与MRI在胎儿胼胝体发育不良(ACC)产前诊断中的应用价值。方法 超声怀疑胎儿ACC孕妇16名,均在超声检查后3天内接受胎儿MR检查。将超声、MRI结果与出生后或引产后结果对照。结果 16名孕妇共检出胎儿16胎,MRI证实14胎为胎儿ACC(出生后随访证实5胎,引产后证实9胎),1胎为单纯双侧脑室扩张伴灰质易位,1胎为脑白质、脑干发育不良。MRI与超声比较,诊断胎儿ACC一致者7胎;超声可疑、MRI肯定者7胎;对于其伴发中枢神经系统畸形,两者一致者7胎,MRI多于超声者4胎。结论 超声检查是产前筛查胎儿ACC的普遍方法;MRI对胎儿ACC的显示明显优于超声,有助于明确诊断胎儿ACC并判断其分型及合并畸形。     

产前超声对胎儿Dandy-Walker畸形的诊断价值

目的探讨产前超声检查对胎儿Dandy—Walker畸形的诊断价值。 方法对产前超声筛查中发现的11例Dandy—Walker畸形的超声声像图进行回顾性分析。 结果11例胎儿产前超声检查均可见DandyWalker畸形的典型超声表现；9例合并中枢神经系统（CNS）外的其他畸形；2例不伴其他畸形者其染色体正常；11例中10例在超声诊断后引产，其中4例引产后进行了尸检证实，1例仍在孕中，但已经MRI证实。 结论产前超声能有效诊断DandyWalker畸形，正确的扫查手法及标准切面能有效地避免漏误诊。     

The Dandy-Walker malformation prenatal sonographic diagnosis and its clinical significance

To determine the usual sonographic findings and clinical significance of the Dandy-Walker malformation (DWM) identified in utero, we reviewed seven proven cases diagnosed by prenatal ultrasound during a 6-year period. All patients demonstrated complete or partial absence of the cerebellar vermis and a posterior fossa cyst. Other central nervous system (CNS) findings included hydrocephalus (five cases) and agenesis of the corpus callosum (one case). Extra-CNS abnormalities were prospectively identified in 3 of 4 fetuses with multiple anomalies. Chromosomal analysis was performed on all four fetuses with multiple extra-CNS anomalies, yielding 2 abnormal karyotypes (trisomy 18 and mosaic trisomy 13). Fetal mortality was directly dependent on the presence of extra-CNS anomalies. Five fetuses ultimately died, including all four with multiple extra-CNS anomalies. The remaining two patients are alive at 1.5 and 6 years of age. We conclude that DWM has a distinctive sonographic appearance that can be identified by prenatal ultrasound and that identification of DWM should initiate a careful search for concurrent anomalies as well as consideration of chromosomal analysis.     

胎儿胼胝体发育不全的MRI诊断

目的 探讨MRI在胎儿胼胝体发育不全(ACC)诊断中的应用价值.方法 39例孕妇,年龄19～35岁;孕龄22～39周,平均29周.产前常规行超声(US)检查后24～48 h内行MR检查,采用二维快速平衡稳态采集(2D FIESTA)序列、单次激发快速自旋回波(SSFSE)序列、快速反转恢复运动抑制(FIRM)序列及扩散...     

Fetal magnetic resonance imaging in the evaluation of fetuses referred for sonographically suspected abnormalities of the corpus callosum.

OBJECTIVE: Fetal magnetic resonance imaging (MRI) has been shown to be useful in assessing the developing central nervous system. However, its utility in specific brain disorders has not been well investigated. We hypothesized that fetal MRI can better assess the integrity of the brain in cases with sonographically suspected callosal abnormalities. METHODS: We retrospectively reviewed fetal MRI and prenatal sonographic studies of 10 fetuses referred for MRI for sonographically suspected callosal abnormalities. RESULTS: An abnormal corpus callosum was identified on fetal MRI in 80% of cases. The type of callosal abnormality (complete or partial agenesis) was similar on both prenatal sonography and fetal MRI in all cases. All sonographically identified additional brain abnormalities were detected on fetal MRI, with the exception of choroid plexus cysts. Furthermore, in 63% (5 of 8) of cases with a callosal abnormality on both sonography and fetal MRI, additional brain abnormalities were detected on fetal MRI that were not apparent on sonography. These sonographically occult findings were confirmed on postnatal MRI or autopsy in 3 of 5 patients. CONCLUSIONS: Fetal MRI is an important adjunct to sonography in assessing the corpus callosum and other aspects of brain development when agenesis of the corpus callosum is suspected. It can identify frequent additional findings that are not visible on sonography such as abnormal sulcation. In light of the association between additional brain abnormalities and worse neurodevelopmental outcome, the potential of fetal MRI as an important adjunctive prognostic imaging test in fetuses with callosal agenesis can now be tested.     

Characteristics, associations and outcome of partial agenesis of the corpus callosum in the fetus.

OBJECTIVES: To report, in a population of fetuses diagnosed with partial agenesis of the corpus callosum (PACC), the sonographic characterization, incidence of cerebral, extracerebral and chromosomal anomalies, and outcome. In addition, in some of our cases a comparison was made between findings on ultrasound and fetal magnetic resonance imaging (MRI). METHODS: This was a retrospective study of all cases of PACC seen at two referral centers for prenatal diagnosis of congenital anomalies over a 10-year period. The following variables were assessed: indication for referral, additional cerebral and extracerebral malformations, chromosomal abnormalities, and pregnancy and fetal/neonatal outcome. RESULTS: Among 54 cases of fetal agenesis of the corpus callosum detected in the referral centers during the observation period, PACC was diagnosed at prenatal sonography in 20 cases and confirmed at pre/postnatal MRI and necropsy examinations in 19 cases (35%). These 19 constituted the study group. The diagnosis was made in the sagittal planes and in 12 cases it was made prior to 24 weeks. In most cases the indication for referral was the presence of indirect signs of callosal anomalies, such as colpocephaly. In 10 cases PACC occurred in association with other anomalies and in nine it was isolated. MRI was particularly useful for demonstrating some additional cerebral anomalies such as late sulcation, migrational pathological conditions and heterotopia. Regarding pregnancy outcome, of those diagnosed before 24 weeks which had associated anomalies, all except two were terminated. Of the nine cases with isolated PACC, all were liveborn. Follow-up was available in eight, and two of these (25%) showed evidence of significant developmental delay. In our series the outcome of isolated PACC was not better than that of complete agenesis of the corpus callosum reported in other series. CONCLUSIONS: PACC can be diagnosed reliably and characterized in prenatal life. The sonographic sign present in most cases is colpocephaly. Prenatal MRI can be performed to confirm the diagnosis. It is particularly useful to demonstrate some additional cerebral anomalies such as late sulcation, migrational pathological conditions and heterotopia. The relatively poor survival rate is due to the high rate of terminations and associated major anomalies.     

胎儿颅脑畸形的产前超声诊断

目的探讨胎儿颅脑畸形的超声表现及产前超声对颅脑畸形的诊断价值。方法回顾性分析59例(包括误诊的3例)颅脑畸形胎儿的超声表现及临床资料。结果59例颅脑畸形包含12种类型,单纯颅脑畸形35例,24例合并其他畸形,25例羊水过多。结论胎儿颅脑畸形种类繁多,大部分畸形可在产前超声检查时发现,认识各种颅脑畸形的声像图特征对诊断及鉴别诊断至关重要。     

胎儿胼胝体缺如产前超声及磁共振诊断的应用分析

目的分析胎儿胼胝体缺如的产前超声及磁共振诊断价值。 方法对2013年7月至2014年12月湖北省妇幼保健院产前超声筛查怀疑胼胝体缺如的67例胎儿于超声检查后3 d内行颅脑磁共振检查,与引产或出生后检查结果对照,对产前超声及磁共振检查结果进行分析。 结果产前超声怀疑胼胝体缺如的67例胎儿磁共振检查后均证实为胼胝体缺如,其中胼胝体完全缺如58例,胼胝体部分缺如9例（均为胼胝体体部和压部缺如）。胎儿胼胝体缺如在磁共振正中矢状位图像上表现为胼胝体完全或部分缺如,脑回呈放射状排列;在横轴位和冠状位图像上表现为侧脑室轻至中度扩张,形态失常。 结论磁共振对胎儿胼胝体缺如有较高的诊断价值,可作为产前超声的补充和验证方法,在产前超声检查怀疑胎儿胼胝体异常时,应行胎儿磁共振检查明确诊断。超声与磁共振联合筛查,是胎儿中枢神经系统畸形产前检查中重要的影像学诊断方法。     

产前超声对胎儿体蒂异常的诊断价值

目的 探讨超声对胎儿体蒂异常的诊断价值.方法 回顾分析我院诊断的5例胎儿体蒂异常病例的产前超声表现,并与病理结果进行对照.结果 5例胎儿超声检查均可见较大的腹壁或胸腹壁缺损、内脏器官疝出、严重的脊柱及肢体异常以及脐带过短或缺如,多数伴有单脐动脉.所有胎儿均人工终止妊娠,其中2例胎儿经尸检病理证实产前超声诊断结果.结论 胎儿体蒂异常是一种致命的严重胎儿畸形,产前超声检查可通过其特征性表现特别是脐带异常表现进行诊断及鉴别诊断,孕11～14周超声筛查有助于本病的早期诊断及处理.