胎儿半椎体畸形的产前超声诊断

目的 探讨胎儿半椎体畸形的超声声像图表现.方法 对引产后经X线检查证实有半椎体畸形的5例胎儿标本进行超声检查,观察半椎体畸形超声表现,并与引产前超声表现比较.结果 5例胎儿标本均存在数目不同的半椎体畸形,共发现半椎体12个,超声检查脊椎矢状切面病变椎体回声模糊或缺失,冠状切面及横断切面椎体部分缺如、呈楔形变,同时可并发相邻椎间隙增宽或变窄及脊柱不同程度侧弯.结论 半椎体畸形胎儿有典型的超声声像图表现,产前超声筛查半椎体畸形具有重要临床意义.     

胎儿肺发育不良的产前诊断

肺发育不良可在胎儿出生后立即引发严重的呼吸窘迫,甚至造成新生儿死亡.本文就肺发育不良的发病原因、临床、超声影像学和病理学特点,对国内外近年产前诊断肺发育不良的各种方法进行综述.     

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。     

胎儿肢体缺失的产前超声诊断

目的探讨胎儿肢体缺失的超声表现与产前超声诊断价值.方法采用连续顺序追踪超声法(SGSA)对29例产前超声检查的孕妇行胎儿肢体检测,并对引产后胎儿标本行模拟宫内超声检查.结果29例胎儿共有12种66个肢体缺失,产前超声共检出15例51个肢体缺失,其中23例肢体缺失合并其他畸形,仅有6例为单独肢体缺失;14例胎儿的15个肢体缺失漏诊.结论SCSA是产前超声诊断胎儿较大肢体缺失的可靠方法.     

胎儿心脏肿瘤的产前超声诊断

目的 探讨多普勒超声产前诊断胎儿心脏肿瘤的临床价值。方法 在胎儿心脏多切面观仔细观察房室腔和心包腔内有无肿块及检测肿块所致的血流梗阻和病理变化。结果 9例产前超声诊断为胎儿心脏肿瘤者,经尸体解剖和心脏手术证实8例诊断正确,1例假阳性。8例胎儿心脏肿瘤中位于左室4例,右室2例,心肌内1例,心包腔内1例。其中横纹肌瘤5例,纤维瘤2例,脂肪瘤1例。声像图特征为在心腔内可一个形态稳定、边界清晰、内部回声均匀的等回声或高回声肿块。结论 超声心动图是诊断胎儿心脏肿瘤的可靠方法,对于肿瘤定位、评估继发性病理改变具有重要价值。     

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.     

产前超声诊断胎儿主动脉闭锁

目的 探讨产前超声诊断胎儿主动脉闭锁的临床价值.方法 回顾性分析9例经引产后尸检证实的主动脉闭锁胎儿的产前超声心动图表现,总结其声像图特征.结果 9例主动脉闭锁胎儿声像图显示升主动脉及主动脉弓细窄7例,升主动脉及主动脉弓显示不清2例,彩色多普勒血流显像9例胎儿均显示主动脉与左心室无血流连接,主动脉弓显示反向血流.9例胎儿中6例伴发左心发育不良,2例伴发室间隔缺损,左心室发育良好,1例伴发完全型房室间隔缺损.9例胎儿检出时平均孕龄(26.0±2.6)周,孕龄最小者仅为孕16周.结论 产前超声诊断胎儿主动脉闭锁具有重要临床价值;升主动脉、主动脉弓细窄或显示不清,主动脉与左心室无血流连接及主动脉弓内反向血流是主要诊断依据;彩色多普勒血流显像有助于早期诊断.     

胎儿颅内出血的产前超声诊断

目的 探讨产前超声对胎儿颅内出血的诊断价值.方法 回顾分析我院诊断的5例胎儿颅内出血病例的产前二维超声表现,并与其他影像学检查结果进行对照.结果 5例颅内出血胎儿均于中晚孕期发现,产前超声主要特点为一侧或双侧侧脑室增宽,侧脑室内部或周边可见异常回声.5例全部经产前磁共振检查证实为出血性病变.4例胎儿人工终止妊娠,1例随访至生后10个月无神经系统异常表现.结论 胎儿颅内出血具有特征性超声表现,很少合并其他畸形,详细的超声检查及随访有助于本病的早期发现及处理.     

产前超声诊断胎儿侧脑室周围假性囊肿

目的 评价产前二维超声对胎儿侧脑室周围假性囊肿的诊断价值。 方法 对产前超声发现的7胎胎儿双侧侧脑室周围假性囊肿进行回顾分析。 结果 7胎双侧侧脑室周围假性囊肿均于中晚孕期由超声检出,其中4胎接受产前MR检查。7胎共同声像图特征为双侧侧脑室前角旁区域可见囊肿,其中2胎伴有侧脑室轻度增宽。2胎孕妇终止妊娠,5胎出生后新生儿外观正常,随访至出生后1~3个月未发现神经系统异常表现。 结论 产前超声可以基于特征性声像图表现对胎儿侧脑室周围假性囊肿进行诊断和鉴别诊断。孤立性侧脑室周围假性囊肿预后良好,不影响神经系统发育。     

胎儿主动脉发育不良的产前超声诊断

胎儿主动脉发育不良是较严重的先天性心脏病,超声心动图早期发现和诊断本病,对临床干预有重要指导意义.本研究探讨超声心动图产前诊断胎儿主动脉发育不良的价值.     

胎儿手畸形的产前超声诊断

目的 探讨产前二维及三维超声在胎儿手畸形分类中的作用.方法 回顾性分析14例胎儿严重手畸形病例的产前声像图特征,结合家谱分析、染色体核型分析与引产后尸检病理结果等进行形态学分类.结果 孕16～28周共检出严重手畸形胎儿14例,其中10例为双手同时受累,8例双侧畸形形态相同.13例合并其他超声异常表现.按畸形形态分为3类:手腕部姿势异常9例,3例合并桡骨完全缺失、手向桡侧偏斜,6例手向掌侧偏斜,包括家族遗传性先天性多发性关节弯曲畸形-远端1型、羊膜带综合征、体蒂异常、18-三体、四肢短小畸形各1例.手(指)缺如畸形3例,1例单纯性单侧手缺如,1例为5个手指缺如合并多囊性肾发育不良,1例为裂手裂足畸形.手指重叠畸形4例,3例为18-三体,2例合并手腕部姿势异常.结论 产前二维及三维超声在严重胎儿手畸形的检出、形态学分析和分类诊断等方面有重要作用.     

Prenatal diagnosis of fetal ovarian hyperstimulation.

A case of prenatal diagnosis of fetal ovarian hyperstimulation in a pregnancy of 35 weeks is reported. Two large cystic septate ovaries with no internal vegetations were observed in the fetal abdomen. The fetus was macrosomic and the remaining morphology was normal. Polyhydramnios and placental thickening were present, with no other macro- or microscopic alterations. The only significant maternal change detected was elevation of blood beta-human chorionic gonadotropin (beta-hCG) levels. Evaluation of the newborn confirmed the prenatal diagnosis, with progressive and spontaneous regression of fetal ovarian volume and of maternal serum beta-hCG occurring after delivery.     

Prenatal ultrasound diagnosis of fetal craniosynostosis.

OBJECTIVE: Craniosynostosis is defined as the premature closure of the calvarial sutures. The prevalence of this heterogeneous condition is 1 in 2000 and approximately 100 different forms have been described with an established genetic transmission in half of them. Prenatal diagnosis of craniosynostosis relies mainly on identification of associated anomalies and molecular analysis of fetal DNA, which is only feasible in some syndromic forms and in well-documented families. The objective of this study was to investigate the value of prenatal ultrasound examination of cranial sutures in fetuses at risk for craniosynostosis. METHODS: Forty fetuses at risk for craniosynostosis on the basis of either a family history (Group 1, n = 16) or skull deformity suspected on a first-level fetal ultrasound examination (Group 2, n = 24) were retrospectively investigated. Craniosynostosis was suspected on the basis of skull deformities when present, however the diagnosis was only made in cases where there was a loss of hypoechogenicity of the normal sutures. All infants had both clinical and radiological investigations performed postnatally. RESULTS: In Group 1, serial ultrasound examination from 12 weeks' gestation onwards led to accurate prenatal diagnosis in all 16 cases. Dysmorphism and skull deformity preceded closure of the sutures by 4 to 16 weeks. In Group 2, prenatal diagnosis was correct in 23/24 cases. There were no false-negative results in either group. CONCLUSIONS: This series questions further the uncertain genetic determinism of craniosynostosis and seems to rule out the hypothesis of a deformation sequence following primary closure of the cranial sutures. It also suggests that ultrasound examination is useful to demonstrate closure of the sutures in the third trimester of pregnancy in most affected cases.     

Prenatal diagnosis of fetal chest lymphangioma.

OBJECTIVE: Prenatally diagnosed cystic nuchal hygroma is often associated with chromosomal anomalies and hydrops fetalis. Chest lymphangioma diagnosed later in gestation appears to be a completely different disease, with a low incidence of chromosomal and structural anomalies. METHODS: Two chest cavernous lymphangiomas of the fetus are presented. The sonographic images, chromosomal analyses, and macroscopic and microscopic evaluations are described. RESULTS: Fetal chest cavernous lymphangiomas were identified at 15 and 22 weeks' gestation. In the first case, the couple decided to interrupt gestation. In the second case, prenatal sonography showed a multilocular, cystic lymphangioma external to the chest wall with no flow on Doppler sonography. Follow-up sonography revealed normal fetal growth and slow enlargement of the cystic mass surrounding the left chest cavity. The neonate was delivered without complications and was treated surgically. CONCLUSIONS: The chest lymphangioma appears to be a lesion usually not associated with other congenital abnormalities. The prenatal diagnosis of chest wall lymphangioma is relatively easy sonographically, and the treatment of choice is surgical excision. The outcome is relatively favorable, with a low incidence of chromosomal and structural anomalies.     

胎儿下颌畸形的产前超声诊断分析

目的探讨胎儿下颌畸形的产前超声表现、检查技巧及临床意义,提高此类畸形的产前检出率。方法对山东省枣庄矿业集团中心医院常规产前筛查或在外院超声检查发现其他异常来我科会诊的胎儿颜面部进行常规多切面扫查。先通过二维超声正中矢状切面主观目测是否存在下颌发育畸形,同时对可疑病例进行颜面部的冠状面及横切面补充扫查,仔细测量下颌骨前后径,并与双顶径进行比较,然后启动三维表面重建成像协助明确产前诊断。所有经产前超声诊断的患者均经引产后证实。结果产前共检出下颌发育畸形胎儿11例,其中小下颌畸形9例,下颌骨缺失2例。结论产前二维超声可以明确诊断胎儿下颌发育畸形,正中矢状切面是诊断此类畸形的首选切面;颜面部三维表面成像具有空间立体显像优势,可全面、直观地再现颜面结构的外形及细部缺陷,是提高胎儿颜面畸形诊断准确度的有效辅助手段。     

胎儿食道闭锁产前超声诊断分析

目的探讨胎儿食道闭锁(EA)产前声像图特征,以提高胎儿食道闭锁产前超声诊断符合率。方法收集产前超声诊断、尸检或产后检查证实为胎儿食道闭锁病例共9例,分析其主要超声表现。结果 9例胎儿中3例孕周≤24周时检出,其中2例超声表现为胃泡不显示,伴有其他结构明显异常,染色体检查异常,尸检结果为单纯食道闭锁;1例超声表现为小胃泡、羊水过多伴右心室双出口、单脐动脉,尸检结果为食道闭锁伴食管气管瘘;其余6例胎儿孕周>28周时检出,其中3例超声表现为小胃泡、3例胃泡不显示;4例胎儿可见近端食道囊状扩张;3例羊水过多;3例胎儿宫内生长受限。此6例胎儿产后证实为食道闭锁合并气管食管瘘。结论胎儿食道闭锁有其特征性超声表现,产前超声对诊断胎儿食道闭锁有重要意义。