胎儿前脑无裂畸形的产前超声诊断

目的探讨产前超声检查对胎儿前脑无裂畸形的诊断及鉴别诊断价值。方法对在9114例产前超声筛查中发现的7例胎儿前脑无裂畸形的超声声像图及引产后尸检资料进行回顾性分析。结果产前超声诊断的7例前脑无裂畸形全部经引产后尸检证实,颅脑异常的声像图表现为单一脑室、丘脑融合及脑镰、胼胝体等中线结构缺如,7例病例均伴有不同程度的颜面部畸形。结论产前超声对胎儿无叶及半叶型前脑无裂畸形具有重要的诊断价值,该病特有的颅脑声像图特征及大多伴有颜面部畸形的特点有助于诊断及鉴别诊断。     

产前超声在前脑无裂畸形诊断中的意义

目的 探讨产前超声检查在胎儿前脑无裂畸形诊断及鉴别诊断中的价值.方法 对27 680例我院产前超声检查中发现的13例胎儿前脑无裂畸形超声声像图及引产后尸检资料进行回顾性分析.结果 13例前脑无裂畸形中,无叶型及半叶型前脑无裂畸形12例,叶状前脑无裂畸形1例.无叶型及半叶型前脑无裂畸形(HPE)超声表现:单一原始脑室、丘脑融合、脑中线结构缺如、中线性颜面部畸形.叶状HPE超声表现:侧脑室前角融合、透明隔腔及胼胝体缺如.结论 产前超声检查是胎儿前脑无裂畸形的主要检测手段,对临床处理具有重要意义.     

胎儿前脑无裂畸形的超声诊断价值

目的：探讨产前超声检查对胎儿前脑无裂畸形的诊断价值。方法：对5例超声诊断为胎儿前脑无裂畸形声像图特点及引产后回顾性分析。结果：3例无叶全前脑,声像图为大脑半球完全融合,大脑镰消失,丘脑融合,可见原始脑室;2例半叶全前脑,丘脑融合,前部为单一脑室,后部为两个脑室。结论：前脑无裂畸形是严重的神经系统结构异常,其具有特有的颅脑声像图特征且多伴颜面部畸形,超声检查是检测胎儿前脑无裂畸形的最重要方法。     

全前脑的产前超声诊断与染色体核型分析

全前脑(又称前脑无裂)是一种少见的由于前脑完全或部分未分裂导致的脑部及面部结构异常.本研究通过回顾性分析6例产前超声诊断中发现的全前脑声像图及染色体核型,探讨超声对此畸形的诊断价值及其与染色体异常的相关性.     

产前三维彩超诊断前脑无裂畸形6例分析

目的 评价三维彩超产前超声检查对胎儿前脑无裂畸形的诊断价值.方法 回顾分析18400例产前胎儿系统超声检查的胎儿,其中前脑无裂畸形6例,对其超声表现并与引产后的结果分析.结果 6例前脑无裂畸形无叶全前脑4例,半叶全前脑2例,6例经三维立体成像均有不同程度颜面结构异常;6例引产后均经尸检及CT证实,胎儿引产超声加三维成像检查对胎儿前脑无裂畸形诊断符合率100％.结论 产前胎儿引产超声检查加三维立体成像对胎儿无叶及半叶前脑无裂畸形有较高的临床诊断价值.     

产前超声检查对胎儿前脑无裂畸形的诊断价值

目的：探讨产前超声检查对胎儿前脑无裂畸形（Holoprosencephaly,HPE）诊断的价值。方法：对我院产前超声检查中发现的34例胎儿前脑无裂畸形超声声像图特征及产后结果进行回顾性分析。结果：34例前脑无裂畸形胎儿中无叶HPE 21例,产前超声表现为单一脑室,丘脑融合,脑中线结构消失;半叶HPE 5例,产前超声表现为单一脑室,丘脑部分融合,可见部分脑中线;叶状HPE 8例,产前超声表现为无透明隔腔,侧脑室前角融合。34例前脑无裂畸形胎儿中合并单发或多发畸形29例,其中颜面部畸形23例,心脏畸形8例,肾脏异常4例,脊柱裂1例,肢体异常6例,全身水肿3例,单脐动脉6例,脐带囊肿1例,胃泡显示不清2例,羊水过多5例,羊水过少2例。34例中10例行染色体核型分析检查,结果3例13-三体,1例18-三体,1例染色体部分缺失,5例染色体核型正常。结论：产前超声检查对胎儿前脑无裂畸形具有较高的诊断价值,降低严重缺陷儿出生率,对临床诊断有重要意义。     

超声与MRI诊断胎儿前脑无裂畸形的比较

目的探讨胎儿前脑无裂畸形的超声类型及其声像图特征。方法收集超声诊断为前脑无裂畸形胎儿及部分接受MRI检查胎儿的完整资料,与产后新生儿特殊检查或引产后尸体解剖及病理检查结果相比较,分析总结其超声类型及声像图特征。并对其绒毛、羊水或脐血染色体检查结果进行分析,新生儿随访至出生后6个月,追踪其预后。结果本组82 777例胎儿(82 773例孕妇)中超声共检出68例前脑无裂畸形,前脑无裂畸形检出率为8.2/10 000(68/82 777);漏诊及误诊各1例叶状前脑无裂畸形(产后新生儿头颅彩超核实),超声诊断前脑无裂畸形的诊断符合率97.1%(68/70)。其中14例于孕10+¹3+周行超声检查时检出,54例于孕16+13+周行超声检查时检出,54例于孕16+⁴0周行常规超声检查时检出。39例胎儿接受MRI检查,MRI诊断无叶前脑无裂畸形11例、半叶前脑无裂畸形19例、叶状前脑无裂畸形6例,漏诊3例叶状前脑无裂畸形,MRI诊断前脑无裂畸形的诊断符合率为92.3%(36/39),与超声比较,差异无统计学意义(χ2=0.96,0.25相似文献   

超声与磁共振成像在诊断胎儿前脑无裂畸形中的联合应用

目的探讨二维超声、三维多层面超声与磁共振成像(MRI)联合诊断胎儿前脑无裂畸形的临床价值。方法对经常规二维超声诊断及怀疑前脑无裂畸形的孕妇进行三维超声扫查并获取容积图像,应用三维多层面成像(MSV)模式进行图像后期处理及分析,并同期行MRI检查,将诊断结果进行对照分析。结果二维超声明确前脑无裂畸形9例,怀疑前脑无裂畸形6例。MSV序列层面诊断前脑无裂畸形无叶型10例,半叶形5例,图像信息丰富,优于二维超声。MRI诊断无叶型11例,半叶型4例。MRI可以同时得到冠状矢状面与轴平面,且对脑灰质白质与大脑镰、脑裂隙结构显示明显优于二维超声与MSV。其中前脑无裂合并颜面畸形9例、合并心脏畸形4例、合并脊柱畸形1例,均经引产后证实。病理结果诊断15例前脑无裂中无叶型11例,半叶型4例。结论 MSV可从冠状面与轴平面通过序列切面观察前脑无裂畸形颅内结构病变特征(尤其是半叶型前脑无裂畸形),故优于二维超声。MRI则明显优于二维与MSV。二维超声对前脑无裂合并心脏畸形诊断优于MSV与MRI。多种影像方法联合应用,能使临床医师更加全面认识前脑无裂畸形病变特征与分型,并提高诊断的准确性。     

三维超声在产前诊断全前脑畸形中的应用

目的评价三维超声在产前诊断全前脑畸形中的诊断价值。方法应用超声产前常规检查,对于头颅异常者进行三维超声检查。结果3年来我院超声筛查的28907名孕妇中,发现全前脑畸形5例,占1.7/10000活胎。5例患者中4例伴面部结构异常,2例伴心脏发育异常,1例伴胎儿水肿,5例均合并羊水过多。结论全前脑畸形又称为脑憩室性畸形或前脑无裂畸形。是一种罕见的中枢神经系统畸形,以脑部发育异常为主,常伴有面部结构异常及其他系统发育异常。应用三维超声后更加直观,还可以动态观察颅内结构及比邻关系,能够进一步明确诊断此病。     

胎儿前脑无裂畸形产前诊断分析

目的总结胎儿前脑无裂畸形(HPE)的产前超声图像特征。方法对32例产前超声检出并经引产证实为前脑无裂畸形胎儿的超声影像表现、分型特征及染色体检查结果进行总结分析。结果 32例前脑无裂畸形胎儿中无叶前脑无裂畸形19例,产前超声表现为单一脑室腔,丘脑融合,脑中线结构缺如;半叶前脑无裂畸形5例,产前超声表现为单一脑室腔,丘脑部分融合,脑中线结构部分缺如;叶状前脑无裂畸形8例,产前超声表现为无透明隔腔,侧脑室前角融合。32例前脑无裂畸形胎儿中合并单发或多发畸形,其中颜面部畸形17例,心脏畸形7例,脊柱裂2例,肾脏异常5例,腹裂2例,脐膨出1例,胸腔或腹腔积液2例,全身水肿2例,单脐动脉3例,脐带囊肿1例,宫内缺氧1例,羊水过多2例。1例胎儿肢体异常(多指和趾畸形)。32例中4例(均为单胎)行染色体核型分析检查,结果2例为13-三体,1例为三倍体,1例染色体核型分析正常。结论产前超声检查在胎儿前脑无裂畸形诊断中作用卓著,联合相应染色体检查可进一步提高诊断有效性和准确性。     

产前超声检测胎儿眼部异常的价值

目的探讨产前超声诊断胎儿眼部结构畸形的应用价值。方法应用二维超声对3400例胎儿眼部进行检查,结合声像图特征及引产后尸解结果对眼部异常病例进行分类诊断。结果 3400例胎儿中检出眼部结构异常20例,其中小眼畸形2例,眼距过窄及独眼6例(均合并全前脑),无眼畸形5例(双侧无眼2例,单侧无眼3例),原始玻璃体残留组织增生症(PHPV)1例,眼距过宽6例(4例合并多发畸形,1例合并微小畸形,1例为正中面裂综合征);经引产后证实产前超声诊断眼部异常正确15例,5例失随访。结论超声能直观显示胎儿眼部结构,在胎儿眼部畸形的检出及分类诊断方面有重要作用。     

全前脑面部畸形的产前超声诊断

目的 探讨全前脑胎儿颜面部的产前超声表现与显示手法，提高产前超声对此类颜面部畸形的认识。方法 超声对胎儿颜面部进行冠状、矢状及横切面扫查，检出病例与尸检结果比较。结果 检出14例全前脑胎儿均有不同程度的面部畸形，共出现22个面部畸形，最常见的面部畸形是眼距过近和正中唇腭裂，最严重的面部畸形为独眼畸形，产前超声总检出率91．7％(22／24)。8例(57．1%)全前脑合并有面部以外畸形，超声检出7例。结论 二维超声产前对全前脑胎儿面部畸形可准确显示，是诊断全前脑的可靠佐证。     

Prenatal diagnosis of holoprosencephaly with ethmocephaly via 3-dimensional sonography

We present the prenatal 3-dimensional (3D) sonographic findings in a case of holoprosencephaly with ethmocephaly at 32 weeks' gestation. The sonographic diagnosis was based on the intracranial findings of a single ventricle and bulb-shaped appearance of the thalami and facial abnormalities, including hypotelorism with proboscis. Chromosome study of the fetus revealed a normal female karyotype (46,XX). Postmortem examination confirmed the 3D sonographic findings. This case demonstrates that the use of 3D sonography improves the imaging and the understanding of the condition of the intracranial abnormalities and the facial anomalies.     

Prenatal three-dimensional/four-dimensional sonographic demonstration of facial dysmorphisms associated with holoprosencephaly

In this report, we describe the prenatal use of 3-dimensional 4-dimensional (3D/4D) sonography to visualize the facial dysmorphisms associated with holoprosencephaly in 6 fetuses (2 with cyclopia, 1 with cebocephaly, and 3 with holoprosencephaly-premaxillary agenesis). Ultrafast MRI was also used. The 3D/4D sonographic images allowed easy, rapid, and precise prenatal evaluation of the facial dysmorphisms associated with holoprosencephaly; the MRI scans provided little additional information. The 3D/4D sonograms helped the parents visualize the abnormalities and facilitated their acceptance of perinatal genetic counseling.     

Prenatal diagnosis of alobar holoprosencephaly at 10 weeks of gestation.

Alobar holoprosencephaly is an intracranial abnormality characterized by failure of proper cleavage of the prosencephalon, accompanied by incomplete midfacial development. The prenatal sonographic diagnosis of alobar holoprosencephaly was first described in 1984; however, there have been only two reports of alobar holoprosencephaly diagnosed in the first trimester. We report a case of alobar holoprosencephaly diagnosed at 10 weeks of gestation.     

First-trimester ultrasound diagnosis of holoprosencephaly: three case reports.

We present three cases of fetal holoprosencephaly diagnosed by transabdominal and transvaginal ultrasound examinations at 10 and 13 weeks' gestation. The diagnosis was based on two sonographic criteria: first, the intracranial finding of a single ventricle with a cerebral mantle and no visible midline structures but fusion of the thalami and corpus striatum; and, second, facial abnormalities, including hypotelorism. The ultrasound findings were confirmed by embryoscopy before abortion in one case and by pathological examination after abortion in two cases. Chromosome study of the three fetuses showed trisomy 18, triploidy and mosaic 18p deletion and duplication.     

Prenatal diagnosis of trisomy 13: analysis of 28 cases.

OBJECTIVE: The purpose of this study was to investigate the role of second-trimester sonographic examination in the prenatal diagnosis of trisomy 13. METHODS: Of 22,150 fetal chromosome analyses, 28 fetuses with trisomy 13 were found between 1990 and 2004. Sonographic findings of this aneuploidy were analyzed in this study. RESULTS: The average maternal age was 32.4 years; the average gestational age was 19.5 weeks. There was an 89.3% (n = 25) total prevalence of sonographic abnormalities in fetuses with trisomy 13 in this series. Major (structural) malformations were seen in 23 cases (82.1%), whereas minor anomalies were detected on sonography in 16 cases (57.1%). Although in 2 fetuses 1 minor anomaly was the only sonographic sign of trisomy 13, other cases with minor anomalies (87.5% [n = 14]) were multiplex malformations, in which combinations of major and minor anomalies were detected on sonography. The most frequently seen structural abnormalities were central nervous system and facial anomalies (64.3% [n = 18]). Among central nervous system anomalies, ventriculomegaly and holoprosencephaly were seen most frequently. Cardiovascular anomalies were detected in 53.6% (n = 15) of the fetuses with trisomy 13. This high frequency underlines the importance of echocardiography in diagnosing this aneuploidy. Among minor anomalies, increased nuchal translucency (21.4%) and echogenic bowel (17.9%) were the most common findings. CONCLUSIONS: Second-trimester sonographic examination is capable of showing anomalies that are characteristic of trisomy 13; thus, the scan can indicate whether fetal karyotyping is advisable. Incorporation of careful assessment of the fetal cardiovascular system by sonography certainly increases the detection rate of trisomy 13.     

Monosomy 18p Presenting With Holoprosencephaly and Increased Nuchal Translucency in the First Trimester

Objective. The purpose of this series is to describe the first‐trimester sonographic findings leading to the diagnosis of monosomy 18p. Methods. The sonographic appearance of 2 cases of monosomy 18p, detected as part of first‐trimester sonographic screening for aneuploidy at this institution, was reviewed. Results. Increased nuchal translucency thickness, alobar holoprosencephaly, and facial defects were detected in both cases. Chromosomal analysis by chorionic villus sampling revealed de novo del(18p) in 1 case and monosomy 18p as the result of an 18q isochromosome in the other. Conclusions. Increased nuchal translucency thickness in association with brain and face anomalies on a first‐trimester scan allowed the early diagnosis of monosomy 18p. Fetuses with holoprosencephaly can be readily identified in the first trimester by examining a cross section of the fetal head looking for the “butterfly” sign. Prenatal karyotyping provides important information regarding the etiology and risk of recurrence in these cases.