彩色多普勒超声诊断胎儿唇腭裂畸形

目的通过分析胎儿唇腭裂畸形的声像图特征及其相应的生理、病理学基础,提高彩色多普勒超声对胎儿唇腭裂的诊断率。方法采用彩色多普勒超声检查20周以上孕妇,最晚不宜超过28孕周,尤其有畸形胎儿家族史的孕妇,分析经分娩（包括引产、剖宫产）证实的23例胎儿唇腭裂的超声声像图表现。结果彩色多普勒超声诊断的敏感性高,声像图上,唇裂表现为上唇回声光带中断（单侧、双侧和正中）,双侧唇裂或伴腭裂时,正常鼻唇结构消失,鼻子、上唇回声不连续,呈三瓣状,鼻子塌陷,似兔唇。腭裂不易直接显示。结论彩色多普勒超声对胎儿唇腭裂畸形有很高的诊断价值。     

Marked splenomegaly in fetal cytomegalovirus infection: detection supported by three-dimensional power Doppler ultrasound.

An enlarged fetal spleen can be associated with fetal infection, anemia and different syndromes but its prenatal diagnosis is rare. We report on a diagnosis of splenomegaly at 32 weeks' gestation in a fetus which was found to be affected by cytomegalovirus infection. An enlarged spleen was suspected when the stomach was found to be displaced anteriorly and medially and the diagnosis was supported on visualization of the splenic vessels by color and three-dimensional power Doppler ultrasound. The patient had been referred because of fetal growth restriction and intracerebral anomalies and the additional finding of splenomegaly was highly suspicious for cytomegalovirus infection. This was confirmed by positive maternal serology and by neonatal virus excretion in urine. Retrospectively, examination of stored blood samples from 9 and 23 weeks' gestation revealed an early cytomegalovirus infection. Antenatal and neonatal magnetic resonance imaging examinations showed microcephaly, lissencephaly and the presence of microcalcifications. At the age of 9 months, the child suffers from severe neurological impairment and blindness due to severe optical atrophy. This case emphasizes that color Doppler and three-dimensional power Doppler ultrasound can facilitate the antenatal diagnosis of splenomegaly and can help to delineate the spleen from the similar-looking neighboring liver.     

Fryns syndrome: case report and review of the literature

Fryns syndrome (FS) is a rare malformation. We report a case of FS referred to our clinic at 27 weeks' gestation with a diagnosis of congenital diaphragmatic hernia. Sonographic examination of the fetus revealed a left-sided diaphragmatic hernia, pulmonary hypoplasia, and a median orofacial cleft. The diagnosis of FS was made after exclusion of chromosome aberrations and delivery of the fetus. Macroscopic inspection revealed a coarse face (hypertelorism and broad and flat nasal bridge, anteverted nostrils, median cleft lip/palate, poorly shaped auricles with attached earlobes, facial hirsutism), a narrow thorax, nail hypoplasia, and hypoplastic, widely spaced nipples.     

Nomogram of the fetal alveolar ridge: a possible screening tool for the detection of primary cleft palate.

OBJECTIVE: The objective of this study was to obtain a nomogram of the fetal alveolar ridge development, as a basis for the diagnosis of primary cleft palate. DESIGN: A cross-sectional study of 323 normal pregnant women of 14-32 weeks' gestation. Several biometric measurements were obtained throughout pregnancy, including the width of the fetal alveolar ridge. RESULTS: A nomogram of the width of the fetal alveolar ridge during 14-32 weeks' gestation is presented. A linear growth function was observed between alveolar ridge width and gestational age, biparietal diameter, head circumference, femoral length and humeral length. The alveolar ridge width in all eight cases of cleft palate was above two standard deviations and the 90th centile of our nomogram. CONCLUSION: We provide a nomogram of the growth of the fetal alveolar ridge between 14 and 32 weeks' gestation. This will aid the detection of primary cleft palate during routine prenatal sonography.     

Two-dimensional ultrasound is accurate in the diagnosis of fetal craniofacial malformation.

OBJECTIVE: To assess the accuracy of antenatal ultrasound in the diagnosis of craniofacial malformations and to compare two-dimensional with three-dimensional ultrasound. METHODS: This was a retrospective study in which the archives of our ultrasound laboratory were searched for cases with an ultrasound diagnosis of craniofacial malformation in the period 1986-2001. No attempt was made to look for false-negative diagnoses. RESULTS: Sixty cases with an antenatal diagnosis of a craniofacial malformation were found: 37 with cleft lip/palate; 17 with heterogeneous dysmorphisms (including mostly micrognathia and craniosynostosis) and 6 with miscellaneous craniofacial malformations. Associated anomalies were present in 48/60 (80%) cases, and holoprosencephaly (25 cases) was the most frequent of these. In 43 (72%) cases the diagnosis was made before 24 weeks' gestation. Postnatal follow-up was available for 43 cases and there was always complete correlation between antenatal and postnatal diagnoses. Cleft lip/palate was always accurately differentiated from cleft lip. Three-dimensional ultrasound was performed in 12 cases and was successful in 11. However, it did not provide further diagnostic information with regard to the two-dimensional scan. DISCUSSION: Current two-dimensional ultrasound in expert hands allows an accurate diagnosis of craniofacial abnormalities from early gestation. In our hands, three-dimensional ultrasound did not add any valuable diagnostic information. Three-dimensional ultrasound may facilitate the understanding of the lesion by the parents and facilitate communication with the plastic surgeons. However, these potential benefits need to be carefully weighed against the costs of the ultrasound instrumentation, increased examination time and training of personnel.     

Prenatal diagnosis of placental chorioangioma: contribution of color Doppler ultrasound.

A case of placental chorioangioma was diagnosed at 35 weeks' gestation using color Doppler ultrasound. Color flow imaging showed an intraplacental hypoechoic mass fed directly by the anomalous chorionic tumor vessels arising from the insertion of the umbilical cord. Hypervascularization was present in some areas of the tumor. The diagnosis of typical 'angiomatous' type was confirmed by histopathological examination following delivery.     

Osteolipoma of the palate: report of a case and review of the literature

Oral lipomas, though rare, predominantly affect the buccal mucosa, tongue, and lips. The occurrence of lipomas in the palate is extremely rare. Osteolipoma is a very rare histological variant of lipoma accounting for less than 1% of all cases. Although a few cases involving the soft palate have been reported, there is only one reported case of osteolipoma of the hard palate in the English-language literature and it was a congenital osteolipoma associated with a cleft palate in a 6-year-old male child. This paper aims to describe an additional case uniquely located in the hard palate of an adult female.     

胎儿硬腭的三维超声显像方法及其应用

目的探讨胎儿硬腭的三维超声显像方法及其在产前诊断胎儿腭裂中的应用价值。方法采集100胎孕13～35周正常胎儿及32胎唇裂胎儿颜面部的三维容积数据,通过旋转x、y、z轴、调节灰度阈值和片层,显示观察胎儿硬腭矢状面、冠状面和横断面声像图。结果正常胎儿硬腭矢状面显示率为93.00%(93/100),呈前后走向的带状稍强回声,表面光滑,前方与上牙槽突强回声相延续;冠状面显示率为91.00%(91/100),冠状面上硬腭位于中部,呈连续的弧形带状稍强回声,与上方鼻骨强回声构成三角关系;横断面显示率为90.00%(90/100),横断面上硬腭呈拱门形稍强回声,前方、左、右侧被上牙槽突强回声所包围;88.00%(88/100)的胎儿硬腭在3个位面上均可显示。32胎唇裂胎儿中,检出9胎合并腭裂并经随访证实,其腭裂部位、裂隙宽度、整体形态及走向显示清楚。结论应用三维超声观察胎儿硬腭简便易行。掌握正常胎儿硬腭三维超声声像图特征有助于提高胎儿腭裂的检出率及评判预后。     

唇腭裂的超声筛查及诊断价值

目的：研究常规鼻唇冠状切面加特殊切面在胎儿唇腭裂畸形筛查中的应用价值.材料与方法：对11688例,孕24 ～ 30周胎儿唇腭部采用常规鼻唇冠状切面加特殊切面（经唇部冠状面、经双眼标准横断面、经鼻腔标准横断面、经上牙槽突标准横断面、经舌标准横断面、经下牙槽突标准横断面和经鼻正中矢状面）行产前超声筛查,并与出生儿颜面部检查结果进行对照分析,总结鼻唇冠状切面加特殊切面超声扫查法的诊断符合率.结果：11688例胎儿共查出59例阳性患者,阳性率0.50％（59/11688）,单纯唇裂13例,占阳性病例的22.03％ （13/59）,唇裂合并腭裂的46例,占阳性病例的77.97％（46/59）,左侧唇腭裂38例,占64.4％ （38/59）,右侧唇腭裂10例,占16.9％（10/59）,正中唇裂2例占3.39％（2/59）,双侧唇腭裂9例,占12.25％（9/59）.结论：超声诊断胎儿唇腭裂畸形通过观察鼻唇部冠状切面加特殊切面（上牙槽突标准横断面、下牙槽突标准横断面、鼻腔横断面、双眼标准横断面、舌标准横断面、胎儿头颅矢状面）及配合一定手法,可明显提高其诊断率.     

Three-dimensional sonographic findings associated with ectrodactyly ectodermal dysplasia clefting syndrome.

Ectrodactyly-ectrodermal dysplasia-clefting (EEC) syndrome is a rare autosomal dominant genetic syndrome. This condition is characterized by varying degrees of ectrodactyly and syndactyly of the hands and feet, a cleft lip with or without a cleft palate, and ectodermal dysplasia. In addition, abnormalities of the genitourinary system occur frequently in association with this syndrome. The wide clinical variability of EEC syndrome has been well documented in the literature, and none of the 3 cardinal signs seem to be obligatory. We present a case of classic familial EEC syndrome diagnosed by prenatal sonography at 17 weeks' gestation. In addition to tetraectrodactyly and a unilateral cleft lip and palate, renal dysplasia was noted on serial sonographic evaluation. Three-dimensional (3D) surface rendering was used to supplement traditional 2-dimensional (2D) imaging to further evaluate the fetal phenotype.     

大脑中动脉血流参数比值在胎儿高动力循环状态中的初步应用

目的 探讨预测胎儿高动力循环状态的血流参数比值指标。方法 应用二维超声、彩色多普勒能量图及脉冲多普勒技术对17例17－31孕周高动力循环状态胎儿及215例16－31孕周正常胎儿大脑中动脉血流参数及头围进行检查。结果 高动力循环状态组胎儿每分钟单位头围大脑中动脉的最大速度及平均速度均高于正常组（P＜0．05）。结论 大脑中动脉血流参数比值能预测胎儿高动力循环状态。     

The premaxillary triangle: clue to the diagnosis of cleft lip and palate.

OBJECTIVE: The prenatal detection rate of cleft lip and palate is low, especially in low-risk patients who undergo targeted sonography. The reason is that evaluating surface anatomy is relatively difficult and requires operator expertise. Our purpose was to describe a technique to improve the diagnostic accuracy of facial clefts (lip and palate) and to assess the feasibility of including this technique as part of standard protocol during targeted imaging. METHODS: A prospective study was done during 2000 through 2002 to evaluate the accuracy of the "premaxillary triangle (PMT) sign": a new sign to diagnose unilateral cleft lip and palate in women referred for prenatal sonography at our center. Patients with only isolated unilateral cleft lip and palate and cleft lip were included in this study. Before this, all examiners were trained to image the PMT. The images were reviewed by a senior consultant. It was later decided to include this sign as part of the protocol of targeted sonography done between 18 and 22 weeks in our institution. However, depending on the fetal position, the PMT was documented even in patients referred for the first time in late second and third trimesters. RESULTS: Twenty-nine cases of isolated facial clefts were diagnosed during the study period, of which 2 had unilateral cleft lip and 27 had unilateral cleft lip and palate. The PMT sign was absent in all cases of unilateral cleft lip and palate but was present in 2 cases of isolated cleft lip without cleft palate. CONCLUSIONS: The PMT sign can be easily incorporated into targeted sonography at 18 to 22 weeks' gestation. Its inclusion would help in increasing the detection rate of unilateral cleft lip and palate. It may also be potentially used for differentiating between isolated cleft lip and cleft lip and palate, which helps in better prenatal counseling.     

提高产前超声诊断胎儿唇腭裂效率的方法

目的 分析临床病史结合唇腭部常规三切面、上牙槽突横切面、其他特殊切面与三维超声配合胎儿不同体位对提高产前超声诊断胎儿唇腭裂效率的协助作用。 方法 对我院2014年9月~2016年12月7000例中孕期（孕20~24+6周）胎儿行颜面部超声筛查,超声检查前常规询问病史,以规范化常规三切面、上牙槽突横切面作为筛查切面,有异常时应同时采集胎儿张口时和闭口时的二维图像,最后采集三维图像,与引产或分娩后患儿颜面部结果进行对照,比较各种方法对提高产前超声诊断唇腭裂畸形的效率与准确率的作用。 结果 7000例胎儿超声共检出唇腭裂27例,经引产和分娩证实唇腭裂29例,其中常规三切面组检出胎儿唇腭裂畸形20例,产前超声漏诊9例,超声诊断符合率为69%;常规三切面、上牙槽突横切面、其他特殊切面加三维超声组产前超声检出胎儿唇腭裂畸形27例,产前超声漏诊2例,产前超声诊断符合率为93%;对比两种方法在唇裂合并腭裂病例存在显著性差异（P<0.05）。 结论 超声医师检查前常规采集病史,检查时准确识别胎儿唇鼻部腭部正常结构和声像图特征,掌握常规三切面、上牙槽突横切面和其他特殊切面的手法和技巧,仔细观察胎儿唇鼻结构和张口闭口运动,同时应用三维超声表面成像模式,将会提高唇腭裂畸形的超声诊断率,给临床医生及孕妇提供可靠的信息。       

Transvaginal color Doppler in the detection of external iliac vein thrombosis in pregnancy.

A case is described where transvaginal color Doppler was used to demonstrate upward external iliac vein extension of thrombus at 26 weeks' gestation. Normally, transabdominal color Doppler can visualize the iliac vessels, but in advanced pregnancy the uterus obstructs the view. This technique is useful in determining of there is a 'high' deep vein thrombosis in pregnancy, and may also prove useful in the obese patient.     

三维超声自由解剖成像新技术在胎儿腭显示中的应用

目的评价三维超声自由解剖成像新技术（全方位观中任选切面）在胎儿腭部显示中的应用价值。方法应用三维超声自由解剖成像技术对100例正常胎儿经下颌颜面部正中矢状切面的容积数据进行分析,在参考切面（颜面部正中矢状切面）上描画解剖线,获取横切面（经上颌、经口裂）、冠状切面、斜冠状切面（经梨状孔、经口裂、经颏下三角）以及腭的曲面平铺成像。对5例唇腭裂胎儿按照相同技术获取容积数据并进行分析。结果 100例正常胎儿中91例（91.0%,91/100）成功采集到颜面部容积数据,经三维超声自由解剖成像技术对91例容积数据进行分析,不同成像切面上腭部显示结果：（1）经上颌横切面显示胎儿牙槽突弓91例（100%,91/91）,声像图表现为＂C＂形的弓状结构;显示硬腭91例（100%,91/91）,声像图表现为两侧牙槽骨间片状强回声;经口裂横切面显示软腭81例（89.0%,81/91）,声像图表现为条状软组织带。（2）冠状切面显示硬腭91例（100%,91/91）,声像图表现为条状强回声带,分隔口腔和鼻腔。（3）经梨状孔斜冠状切面显示硬腭91例（100%,91/91）,声像图表现为短条状强回声带;经口裂斜冠状切面显示硬腭91例（100%,91/91）;经颏下三角斜冠状切面显示硬腭91例（100%,91/91）,声像图均表现为条状强回声带,其后方为声影,不能显示其上方的鼻腔及鼻中隔。（4）经梨状孔斜冠状切面显示软腭81例（89.0%,81/91）,显示悬雍垂25例（27.5%,25/91）,声像图表现为片状软组织回声,悬雍垂为软腭下缘正中乳头状突起;经口裂斜冠状切面显示软腭81例（89.0%,81/91）;经颏下三角斜冠状切面显示软腭81例（89.0%,81/91）,声像图均表现为条状软组织带,后上方为鼻咽部无回声区。（5）腭的曲面成像显示牙槽突弓91例（100%,91/91）,显示硬腭91例（100%,91/91）,显示软腭81例（89.0%,81/91）,显示悬雍垂25例（27.5%,25/91）,声像图表现为牙槽突弓呈＂C＂形弓状结构,硬腭呈片状骨性强回声,软腭为片状软组织低回声。在15例包含唇腭裂畸形的容积数据中,分析者能全部确认其中的5例畸形病例,并能确认腭裂累及的部位及范围。结论三维超声自由解剖成像技术易于获取二维超声难以显示的胎儿腭部横切面和冠状切面图像,并可获取继发腭的特殊斜冠状切面图像;通过追踪腭的结构画线,可获取腭的曲面平铺成像,形象直观地显示腭部全景图。此方法可简化胎儿腭的超声检测,减少对操作者技术和经验的依赖,能较快评估胎儿原发腭及继发腭的完整性,确认唇裂胎儿有无腭裂,并可明确腭裂累及的部位及范围。     

三维超声骨骼成像模式对胎儿上颌骨检测的应用研究

目的探讨不同孕期胎儿上颌骨三维超声成像特点。方法对我院261例经常规超声检查颜面部发育无异常胎儿的上颌骨形态进行静态三维超声成像,并比较各孕期三维超声成像的成功率;同时对3例非颜面部畸形引产后胎儿上颌骨标本进行解剖及体外三维超声成像,对8例腭裂畸形胎儿进行上颌骨三维重建。结果孕12～27+6周胎儿上颌骨三维成像的成功率均≥96%,孕36～40周成像成功率为27.5%;8例腭裂畸形胎儿均成功显像。孕12～15周胎儿上颌骨三维立体图像显示似平放的直角三角形;孕16周时可清晰显示鼻切迹及鼻前棘,胎儿上颌骨与成人相似。结论三维超声骨骼成像模式在显示胎儿上颌骨解剖结构和形态特征方面具有明显的优势,可作为二维常规超声检查的重要补充。     

Prenatal diagnosis of a nasal glioma in the mid trimester.

We report a case of fetal nasal glioma diagnosed at 21 weeks of gestation. The glioma appeared as a moderately hypoechoic mass arising from the junction between the medial aspect of the left orbit and the lateral aspect of the nose, and showing no internal vascularization on color and power Doppler ultrasonography. Fetal magnetic resonance imaging (MRI) excluded the possibility of an encephalocele by ruling out underlying bone defects. After an uneventful pregnancy, the nasal glioma was resected without complications at 4 months of age. The differential diagnosis of fetal paranasal facial masses is discussed.     

Ultrasound antenatal diagnosis of cleft palate by a new technique: the 3D "reverse face" view.

OBJECTIVE: To assess the clinical value of a novel three-dimensional (3D) ultrasound technique, the reverse face view (3D RF view), in the antenatal categorization of facial clefting and in particular clefting of the hard palate. METHODS: Eight cases of suspected orofacial clefting were examined by 3D surface rendering. The fetal lips and alveolar ridge were examined in the frontal plane and the face was then rotated through 180 degrees on the vertical axis to examine the secondary palate by the 3D RF view. RESULTS: In each case described, we were able to visualize the fetal face, lips and palate and make an antenatal diagnosis as to whether the palate was affected. In all cases, the antenatal diagnosis was subsequently confirmed. In one case with a left-sided cleft in the lips and alveolar ridge and an intact hard palate, the correct diagnosis was made but a cleft in the soft palate was missed. CONCLUSION: Although clefts of the lips and alveolar ridge are readily diagnosed on high-quality antenatal ultrasound, visualization of the fetal palate using existing techniques is unreliable. In the patients described here, the 3D RF technique allowed relatively straightforward assessment of the fetal palate with a high degree of accuracy.     

Mid-trimester fetal subdural hemorrhage: prenatal diagnosis.

A routine antenatal ultrasound examination at 20 weeks' gestation revealed a space-occupying lesion in the fetal right cerebral hemisphere. The borders of the mass were indistinct and there was no midline shift. A small collection of echogenic bowel was identified at the right iliac fossa. In an attempt to explain both findings a provisional diagnosis of a fetal blood dyscrasia was made. Fetal cranial magnetic resonance imaging 24 h later confirmed the diagnosis of a subdural hemorrhage. Subsequent fetal blood sampling confirmed severe fetal thrombocytopenia. To our knowledge this is the first report of the antenatal diagnosis of spontaneous mid-trimester fetal subdural hemorrhage.     

Real-time magnetic resonance imaging aids prenatal diagnosis of isolated cleft palate.

OBJECTIVE: Cleft of the secondary palate without cleft lip is difficult to visualize sonographically. This study was performed to assess the utility of sonography, standard magnetic resonance (MR) imaging, and real-time MR imaging in the diagnosis of isolated cleft palate. METHODS: We prospectively assessed 5 fetuses at risk for isolated cleft palate on the basis of family history, micrognathia, or both, using sonography and standard and real-time single-shot fast spin echo MR sequences. Written informed consent was obtained under our Institutional Review Board-approved Health Insurance Portability and Accountability Act-compliant protocol. Images were assessed for confidence in a diagnosis of cleft or normal palate. Prenatal and postnatal diagnoses were compared. RESULTS: In 3 fetuses, micrognathia was visualized by sonography and MR imaging with standard and real-time sequences. One fetus at 19 weeks had a wide cleft of the entire secondary palate, and another fetus at 33 weeks had a cleft of the soft palate; these defects were seen only with real-time MR imaging. One 35-week gestational age fetus had a cleft soft palate that was visualized on standard and real-time MR imaging. Two fetuses with no abnormalities had the normal midline secondary palate seen only on real-time MR imaging. In all fetuses, real-time images were helpful in assessing the secondary palate because the entire midline naso-oropharynx could be visualized. CONCLUSIONS: Real-time MR imaging allows for rapid assessment of the midline structures, providing accurate diagnosis of isolated cleft palate.