First-trimester ultrasound diagnosis in a recurrent case of Walker-Warburg syndrome.

We report on two siblings with Walker-Warburg syndrome (WWS) born to a consanguineous couple. In the index case, the second-trimester scan showed ventricular dilatation and we diagnosed WWS after observing retinal detachment at 26 weeks' gestation and lissencephaly by 32 weeks' gestation in addition to hypoplasia of the cerebellar vermis. The second case was first suspected at 12 weeks' gestation, when we observed a 2.8-mm nuchal translucency and an unusually large hindbrain vesicle. By 14 weeks' gestation, the lateral ventricles were clearly enlarged (12-13 mm), at 16 weeks' gestation the vitreous chamber appeared to be hyperechogenic, and by 17 weeks' gestation hydrocephalus was evident. The couple chose to continue the pregnancy, and during the third trimester lissencephaly, major hydrocephalus and polyhydramnios developed.Serial ultrasound examination should be offered to a family with a history of WWS and therefore a 1 in 4 risk of recurrence. In some cases, recurrence can be suspected as early as the first trimester, however the diagnosis cannot be excluded on the basis of normal ultrasound appearance until later in pregnancy.     

First-trimester sonographic diagnosis of holoprosencephaly: value of the "butterfly" sign.

OBJECTIVE: To study the value of choroid plexus dysmorphology as a screening tool for the first-trimester sonographic diagnosis of holoprosencephaly in a high-risk population. METHODS: A total of 378 consecutive pregnancies undergoing chorionic villus sampling between 11 and 14 weeks' gestation were scanned before the procedure, following the recommendations of the Fetal Medicine Foundation (London, England). A cross-sectional view of the fetal brain, including the visualization of both choroid plexuses (the "butterfly" sign), was obtained in all cases. RESULTS: There were 3 cases in which the butterfly sign was not identified. In these cases, the first-trimester diagnosis of holoprosencephaly was confirmed by the presence of a single monoventricular cavity and fused thalami. Two of these fetuses had features of facial dysmorphism at the time of presentation and 2 had extracranial anomalies, including a cystic hygroma in 1 and a small omphalocele and polydactyly in another. Chromosomal analysis showed trisomy 13 in 2 cases and a ring chromosome 13 in the other. CONCLUSIONS: This series suggests that failure to identify the butterfly sign is a warning sign of holoprosencephaly in the first trimester. Systematic identification of the butterfly sign at the time of sonographic assessment of nuchal translucency provides a valuable tool for the early screening of holoprosencephaly.     

First-trimester diagnosis of sacrococcygeal teratoma: the role of three-dimensional ultrasound.

A fetus was suspected of having a sacrococcygeal teratoma (SCT) on routine nuchal translucency evaluation by sonography at 12+3 weeks. The patient was referred for three-dimensional (3D) sonography to further delineate the extent of the mass. In this case, real-time scanning of the mass in 3D mode assisted the diagnosis of the mass and patient counseling. We present what we believe to be the first case of SCT imaged in the first trimester using 3D ultrasound.     

超声心动图诊断肺动脉夹层--附3例报告

目的初步评价超声心动图诊断肺动脉夹层的价值。方法结合文献，回顾性分析3例肺动脉夹层患者的经胸超声心动图表现。结果3例肺动脉夹层患者均为左向右分流的先天性心脏病患者，其中动脉导管未闭2例，房间隔缺损合并右肺静脉畸形引流1例，均合并重度肺动脉高压，肺动脉显著扩张。其中2例成功行肺动脉夹层缝闭术。超声心动图均能准确显示夹层发生部位、剥离的内膜及破口情况。结论肺动脉夹层是一种罕见且病程凶险的疾病，大部分患者合并原发或继发性肺动脉高压，肺动脉显著扩张。超声心动图是肺动脉夹层的首选影像学诊断方法。     

彩超诊断胎儿先心病2例

病例1,女,24岁,28周孕时彩超检查见胎儿生长径线在正常范围内,大体结构及附属物未见异常.胎儿四腔心探查见室间隔回声失落.提示先心病,室间隔缺损(图1).上级医院检查结果:室间隔缺损,永存动脉干,后孕妇引产.     

First-trimester ultrasound diagnosis of skeletal dysplasia associated with increased nuchal translucency thickness.

A series of five cases of skeletal dysplasia is reported in which the diagnosis was reached at the 11-14-week routine ultrasound examination in our referral center. All five cases had increased nuchal translucency thickness (NT) associated with bone abnormalities. We review the current literature on skeletal dysplasia in the first trimester of pregnancy associated with increased NT.     

Benzodiazepine and hiccup: three case reports

Hiccup is a sudden contraction of the inspiratory muscles, followed by an abrupt closure of the glottis, thus producing a characteristic sound. In the literature, some drugs have been reported to induce hiccup. We discuss three case reports after administration of benzodiazepine to healthy young subjects during two clinical trials. In the first study (a bioequivalence trial of two forms of lormetazepam, tablets and oral solution), 12 subjects were included in an open controlled crossover study with two periods separated by a washout of 7 days. Two subjects presented with hiccup after administration of lormetazepam (2mg oral solution). The symptom resolved in 10 and 40 minutes, respectively. In one subject, rechallenge with a tablet of lormetazepam was positive. The aim of the second study was to assess the effect of sleep deprivation and lorazepam-induced sedation on saccadic eye movements in 12 healthy subjects. Hiccup occurred in one subject 3h 15 after administration of a single oral dose of lorazepam (2mg) and resolved in 45 minutes. All cases were evaluated according to the French imputation method. These observations are discussed with regard to the drug classes mentioned most frequently in the literature.     

超声诊断脾梗死2例报告

病例1,男,63岁.因左上腹无诱因出现疼痛4天就诊,疼痛呈持续性钝痛,平卧加剧,坐位缓解.超声检查(图1):脾厚58 mm,长150 mm,脾内中上部见48 mm×20 mm、56 mm×45 mm低回声区,边界欠清晰,内部呈网状,周边呈不规则稍高回声;CDFI示:低回声区无彩色血流;肝、胆、胰未见异常回声.超声提示:脾大,脾内多发病灶,考虑脾梗死可能.外院CT检查提示:右髂动脉起始部血栓形成.本院CT检查提示:脾大,脾脏大面积梗死及右肾部分梗死,右髂总动脉狭窄.     

Adhesive capsulitis of the hip: Concerning three case reports.

PURPOSE: To describe the diagnosis and treatment of adhesive capsulitis of the hip (ACH). METHOD: A literature review and consideration of three case reports. DISCUSSION: Adhesive capsulitis of the hip is a supposedly rare but probably underestimated condition which predominantly affects middle-aged women. Clinical assessment reveals a painful limitation of joint mobility. The diagnosis is confirmed by arthrography, where the crucial factor is a joint capacity below 12ml. Osteoarthritis and complex regional pain syndrome type 1 are the two main differential diagnoses. Whether the treatment is pharmacological, physical or surgical depends on the aetiology of the condition. Physiotherapy is essential for limiting residual deficits and functional impairments. CONCLUSION: Adhesive capsulitis of the hip is probably more common than suggested by the limited medical literature. The condition is frequently idiopathic but can be secondary to another joint pathology. The first-line treatment consists of sustained-release corticosteroid intra-articular injections and physical therapy. Arthroscopy and manipulation under anaesthesia may be useful in cases of ACH which are refractory to treatment.     

First-trimester diagnosis of imperforate anus.

Imperforate anus or anorectal atresia is often associated with major fetal structural defects but it may also be an isolated abnormality. Prenatal diagnosis is difficult but may be assisted by ultrasound detection of a dilated distal bowel or rectum. We report on a fetus at 12 weeks of gestation in which a dilated colon was detected at ultrasound examination. Dilatation of the colon was clearly seen in the first and third trimesters of pregnancy, but was difficult to detect in the second trimester. At birth, the newborn was diagnosed with a low type of imperforate anus.     

First-trimester determination of fetal gender by ultrasound.

OBJECTIVE: To assess the accuracy of fetal sex determination at 11-14 weeks of gestation. METHODS: Fetal gender assessment by ultrasound was prospectively carried out in 172 singleton pregnancies at 11-14 weeks of gestation immediately before chorionic villus sampling for karyotyping. The genital region was examined in a midsagittal plane and the fetal gender was assigned as male if the angle of the genital tubercle to a horizontal line through the lumbosacral skin surface was greater than 30 degrees and female when the genital tubercle was parallel or convergent (less than 30 degrees) to the horizontal line. RESULTS: The accuracy of sex determination increased with gestation from 70.3% at 11 weeks, to 98.7% at 12 weeks and 100% at 13 weeks. In the male fetuses, there was a significant increase in the angle of the genital tubercle from the horizontal with crown-rump length. Male fetuses were wrongly assigned as female in 56% of cases at 11 weeks, 3% at 12 weeks and 0% at 13 weeks. In contrast, only 5% of the female fetuses at 11 weeks were incorrectly assigned as male and this false-positive rate was 0% at 12 and 13 weeks. CONCLUSION: The clinical value of determination of fetal sex by ultrasound is in deciding whether to carry out prenatal invasive testing in pregnancies at risk of sex-linked genetic abnormalities, because invasive testing would be necessary only in pregnancies with male fetuses. Our results suggest that a final decision on invasive testing for sex-linked conditions should be undertaken only after 12 weeks of gestation.     

Prenatal diagnosis of lobar holoprosencephaly.

Lobar holoprosencephaly was identified with sonography in 12 fetuses between 21 and 35 weeks' gestation. A confident diagnosis was made in each case by a mid-coronal view of the brain demonstrating absence of the cavum septum pellucidum with fusion and squaring of the frontal horns. The only associated anomaly was Dandy-Walker malformation that occurred in three cases. All fetuses had mild to severe ventriculomegaly. Five pregnancies were terminated; there was one spontaneous abortion and six fetuses were delivered at term. A ventriculo-peritoneal shunt was implanted in four. Follow-up was available for five and revealed severe mental retardation in each case. Lobar holoprosencephaly is amenable to prenatal ultrasound diagnosis, although a differentiation with other cerebral malformations may be difficult at times. The outcome of affected infants remains uncertain, but neurological impairment occurs frequently.     

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。     

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   

First-trimester diagnosis of fetal hepatic cyst.

Fetal intra-abdominal cysts seen on antenatal sonography pose a diagnostic problem as they may have many etiological origins. We present a case of a hepatic cyst measuring 11 x 7 x 7 mm that was diagnosed at 13 weeks' gestation by transvaginal sonography. The cyst increased in proportion with the growth of the fetus. Ultrasound-guided needle aspiration of the cyst at 22 weeks' gestation helped to clearly identify the formerly displaced gall bladder and demonstrated the intrahepatic location of the cyst. The aspirated fluid was identified as bile. After aspiration the fluid reaccumulated rapidly. Shortly prior to delivery the cyst measured 75 x 44 x 46 mm. At 39 weeks of gestation a female infant was delivered by forceps (3610 g; Apgar 9/10/10 at 1, 5 and 10 min, respectively). Increasing cyst size and concomitant feeding problems prompted surgery on the 14th day postpartum. A large hepatic cyst was partially excised and marsupialized, confirming the prenatal diagnosis. The postoperative course was complicated by cholangitis, septicemia and recurrence of the cyst. Therefore Roux-en-Y hepatojejunostomy was performed in the second month of life. The postoperative period was uneventful and the child was doing well at the time of writing.     

Prenatal diagnosis of funisitis: two case reports

Acute funisitis is characterized by the infiltration of fetal neutrophils from the umbilical vessels into Wharton’s jelly and presents as fetal inflammation. However, no reports about its prenatal diagnosis using ultrasonography have been published. We encountered one case of oligohydramnios at 26 weeks and another case of threatened premature delivery at 27 weeks of gestation with ultrasonographic findings of non-uniform thickening of Wharton’s jelly, a heterogeneous internal echo, and a high echoic line of the umbilical vessel wall. Acute funisitis was diagnosed, and the postpartum histopathological examination revealed severe funisitis in both cases. To our knowledge, this is the first case report of prenatal diagnosis of funisitis determined using ultrasonography. When we find such ultrasonographic features under the circumstances of intrauterine infection, severe funisitis should be included in the differential diagnosis.