Sonographic accuracy in the diagnosis of ovarian masses

Prediction of the tissue diagnosis of ovarian masses has remained a challenge for the sonographer since many adnexal masses have nonspecific sonographic appearances. We evaluated the accuracy of the sonographic diagnosis of adnexal masses in 100 women undergoing laparotomy for ovarian masses within eight weeks of an ultrasound study. Comparison of the preoperative sonographic and final pathologic diagnoses revealed a correct sonographic diagnosis in 68% of the cases. In addition, sonography correctly identified a benign condition in 17% of the cases, though without arriving at the exact tissue diagnosis. Sonography was frankly misleading in 15% of the cases, misreading whether the lesions were benign or malignant. The identification of ovarian malignancy was correct in 24/30 patients (sensitivity, 80%), and the specificity for correctly diagnosing a benign condition was 87%. The positive predictive value of a sonographic diagnosis of an adnexal malignancy was 73%. The negative predictive value of sonography for excluding a malignancy was 91%.     

Congenital midline porencephaly. Prenatal sonographic findings and review of the literature

A case of congenital midline porencephaly, including the prenatal sonographic findings, is presented. A review of the literature showed that six cases of congenital midline porencephaly have been reported, though none had sonographic evaluation in the prepartum period. The prenatal sonographic diagnosis of this rare disorder is discussed along with the clinical and pathologic findings and outcome of all reported cases.     

Ultrasonographic evidence of uterine malignancy in the postmenopausal uterus

The sonographically enlarged uterine cavity in the postmenopausal woman has been described as indicative of uterine malignancy. In this study, in 10 of 15 cases of proven uterine malignancy with prior pelvic sonographic studies there was evidence predicting the diagnosis. In 10 of 12 cases with positive sonographic findings, uterine malignancy was found at operation. This reveals a 67% rate of success as to the value of negative sonographic findings and an 83% rate of success with positive findings. Pelvic sonography is not a screening test for uterine malignancy, but if positive findings are present, surgical investigation is indicated.     

Megacystis-microcolon-intestinal hypoperistalsis syndrome. Prenatal sonographic findings and review of the literature

A case of megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) in a male infant followed with serial prenatal sonographic examinations is presented. Upon review of the literature, 26 cases of MMIHS have been previously reported of which only 3 were males. The prenatal sonographic diagnosis of this rare syndrome is discussed along with the clinical, pathologic findings and outcome of all reported cases.     

18-三体综合征胎儿超声声像特征分析

目的分析18-三体综合征胎儿超声声像特征,以期早期诊断与处理。方法回顾分析经染色体核型分析确诊的18-三体儿12例超声检查的资料。结果全部18-三体儿存在二个或以上异常超声声像表现。其中,胎儿生长受限、羊水过多表现率最高,各为58.3%;其次是心脏畸形,50.0%;再其次是脉络丛囊肿、单脐动脉、脑发育不全、上肢发育异常。在〈28周的胎儿中,超声异常的表现率最高的是心脏畸形、脉络丛囊肿,各为66.7%,其次是胎儿生长受限、羊水过多,各为50.0%。胎儿生长受限主要表现为股骨长度发育落后于正常。结论超声检查是产前筛查18-三体儿的有效手段。     

Sonographic diagnosis of Down syndrome in the second trimester

We report a sonographic sign consisting of increased skin or soft tissue thickening at the back of the fetal neck during the second trimester, which correlates well with the diagnosis of Down syndrome. Eight hundred consecutive sonograms were performed in conjunction with genetic amniocentesis where four fetuses had trisomy 21 (Down syndrome) by karyotype. Two or 50% had sonographic findings consistent with Down syndrome. Recently we described a retrospective series where 904 sonograms were performed at the time of amniocentesis and seven fetuses had trisomy 21 on cytogenetic analysis. The abnormal sonographic finding at the back of the neck was present in three of those seven cases. Combining these series, 1704 fetuses were examined and 11 cases of Down syndrome were diagnosed cytogenetically. Five of the 11 or 45% had an abnormal sonogram suggestive of Down syndrome. Two of these were patients undergoing sonography for ascertainment of dates at 16 weeks and submitted to amniocentesis solely on the basis of this sonographic finding.     

Pseudocyst of the umbilical cord: prenatal sonographic appearance and clinical significance

OBJECTIVE: To assess the clinical significance of umbilical cord pseudocysts detected prenatally by sonography. METHODS: The prenatal sonographic findings, karyotype, and perinatal outcome in 13 fetuses with umbilical cord pseudocysts were reviewed retrospectively. RESULTS: Umbilical cord pseudocysts were diagnosed at a median gestation of 27 weeks (range 15-37). Pseudocysts were single in eight cases with cyst diameters ranging from 20 to 50 mm, and double in one case. In the remaining four cases, multiple small cystic masses measuring less than 8 mm were identified. Additional sonographic findings were noted in 11 cases; ten of these fetuses had prenatal karyotyping, which showed trisomy 18 in five cases, trisomy 13 in one case, and a 46,XX, inv ins(18;21) complement in one case. Among the seven chromosomally abnormal fetuses, umbilical cord pseudocysts were multiple in four fetuses and single in three. All chromosomally abnormal fetuses and two euploid fetuses with associated structural defects died in utero or in the neonatal period. There were no perinatal complications in either of the fetuses with isolated pseudocysts. CONCLUSION: The prenatal sonographic appearance of umbilical cord pseudocysts varied widely. These umbilical cord cystic masses were associated strongly with chromosomal disorders and structural defects, regardless of their sonographic appearance in utero.     

中晚孕期18-三体综合征胎儿的超声特征

目的:研究中晚孕期18-三体综合征胎儿超声影像的变化。方法:回顾分析经羊膜腔穿刺、脐血管穿刺胎儿染色体分析确诊为18-三体的胎儿24例的临床资料和超声影像特征。结果:24例18-三体胎儿中,22例超声影像有变化,占全部病例的91.7%;最常见的超声变化是心脏畸形,共15例,占62.5%;其它常见的异常有脉络膜囊肿、脐带异常、肢体异常、宫内生长迟缓、脑室扩大、小脑延髓池扩大等;还可见颅骨变形、颜面裂、颈项皮肤增厚、消化道闭锁、腹壁缺损、膈疝、肾盂轻度积水、羊水过多等。结论:超过90%的18-三体胎儿中晚孕期可发现超声影像改变,中晚孕期胎儿超声检查是产前筛查18-三体胎儿的有效手段。     

Antenatal sonographic diagnosis of single umbilical artery

Seven fetuses with a single umbilical artery were detected at the perinatal ultrasound unit of Yale University during a one-year period. Other sonographic abnormalities included hydramnios (four cases) and intrauterine growth retardation (two cases). Two neonates died shortly after birth, two others survived with abnormalities, and three were normal. The varied sonographic appearances of single umbilical artery are illustrated and contrasted with sonograms of normal umbilical cords.     

Sonographic features of trisomy 18 at midpregnancy

OBJECTIVE: To evaluate the sonographic characteristics of the fetuses with trisomy 18 at 16-22 weeks of gestation. METHODS: The subjects were recruited from pregnant women undergoing prenatal sonographic examinations at 16-22 weeks of gestation and subsequently proven to be trisomy 18. The results of ultrasound findings were retrospectively reviewed in 25 cases with chromosomes which were confirmed as trisomy 18. RESULTS: All cases had at least one abnormal sonographic finding. There was only one case that had no structural abnormality, but fetal growth restriction was documented. The common sonographic findings included fetal growth restriction, choroid plexus cysts, cardiac anomalies, clenched hand, omphalocele and cleft lip. Fetal growth restriction was the most common finding demonstrated in nearly half of all cases. Other less common findings were diaphragmatic hernia, abnormal head shape, polyhydramnios, single umbilical artery. CONCLUSION: Nearly all fetuses with trisomy 18 had characteristic sonographic patterns of abnormalities demonstrated at midpregnancy. Detailed ultrasound at midpregnancy could effectively screen fetuses with trisomy 18 for further genetic testing.     

Prenatal features of Noonan syndrome.

We report six cases of Noonan syndrome which presented prenatally with sonographic abnormalities. These included increased nuchal fluid, short femora, pleural effusions, hydrops, cardiac and renal abnormalities. A review of all cases of Noonan syndrome seen at two regional genetics centres confirms the association with these sonographic abnormalities. These cases demonstrate the diversity of prenatal presentation of Noonan syndrome and highlight the need to consider this diagnosis, particularly when faced with a fetus with a normal karyotype and varying degrees of oedema or hydrops, with a short femur length.     

9例18三体综合征胎儿的产前诊断

目的探讨利用孕妇血清筛查和胎儿超声筛查进行18三体综合征胎儿产前诊断的有效性。方法对36例首诊主诉为产前筛查胎儿18三体高危、92例首诊主诉为胎儿超声有异常发现的孕18~32周孕妇共128例，进行羊膜腔穿刺羊水细胞培养、或脐血管穿刺脐血细胞培养染色体分析。结果128例胎儿核型中，9例为18三体综合征，2例为其它染色体异常，染色体异常发现率为8．59％（11／128）。首诊主诉为18三体高危发现18三体4例，异常发现率11．11％（4／36）；首诊主诉胎儿超声异常发现18三体5例，其它染色体异常2例，异常发现率7．61％，其中2例18三体合并有筛查高危和超声异常。结论孕妇血清生化指标筛查结合胎儿超声检查是产前检出18三体胎儿的有效筛查手段。     

The detection of stage I ovarian cancer by three-dimensional sonography and power Doppler

OBJECTIVE: The objective was to determine the diagnostic accuracy of three-dimensional (3D) sonography and 3D power Doppler imaging, used together with standard 2D transvaginal grayscale and color/power Doppler modalities, for preoperative sonographic assessment of suspected ovarian lesions. METHODS: Five-year retrospective analysis was performed by our experts on ultrasonography and surgery on the reports from 43 referred patients with suspected stage I ovarian cancer. All patients were evaluated during the week prior to surgery at our department. Preoperative sonographic assessment included careful examination of ovarian volume, morphology, and vascularity by four complementary sonographic methods. Scoring systems combining morphological and Doppler parameters were adopted for 2D and 3D sonographic examinations. Final diagnosis was confirmed by a histopathologist. RESULTS: Out of the 43 stage I ovarian cancers, 42 cases were successfully detected preoperatively by four complementary sonographic methods. Only 30 (69.8%) and 37 (86.1%) cases of stage I ovarian cancer were detected by 2D grayscale and combined 2D grayscale and color Doppler sonography, respectively. Morphological analysis obtained by 3D sonography alone detected 32 of 43 ovarian malignancies, reaching a diagnostic rate of 74.4%. Qualitative analysis of tumor vascularity architecture by 3D power Doppler significantly improved the sonographic management process and successfully detected 41 cases of stage I ovarian cancer (95.4%). When morphological features obtained by 3D sonography were added to 3D power Doppler findings, we achieved an even higher diagnostic accuracy of 97.7%. We found a statistically significant difference (P 相似文献   

Artificial instillation of amniotic fluid as a new technique for the diagnostic evaluation of cases of oligohydramnios

In cases of severe oligohydramnios, sonographic diagnosis is hampered by poor visibility and by increased fetal flexion. Therefore, 74 artificial instillations of amniotic fluid were performed in 50 pregnancies by sonographic guidance. Fetal diseases included Potter's syndrome, obstructive uropathy, cystic kidneys (20 cases); Meckel's syndrome, C. de Lange syndrome, cytomegaly fetopathy (1 case each); VATER association (2 cases); triploidy (5 cases); severe intrauterine growth retardation (8 cases); and premature rupture of membranes (12 cases). By improved sonographic visibility and the observation of fetal behaviour (drinking, filling of stomach and bladder, voiding of bladder after artificial instillation of amniotic fluid), the fetal anatomy could be studied more accurately, malformations could be identified or excluded, and bladder function could be examined. Thus, differentiation between fetuses without functioning kidneys and those with severe intrauterine growth retardation becomes possible. Further, re-aspiration on the day following instillation permitted determination of the karyotype. Finally, the artificial instillation of amniotic fluid is a hazardous intervention (rupture of membranes, labour) and should be reserved only for a small number of selected cases with diagnostically unclear oligohydramnios. For these cases, it seems to be the method of choice permitting a variety of diagnostic information to be obtained.     

Ultrasound findings in trisomy 22

We sought to identify the characteristic sonographic findings of fetal trisomy 22 by performing a retrospective review of nine cases of fetal trisomy 22. All cases of chromosomal mosaicism were excluded, as were first-trimester losses. Indications for sonography, gestational age, and sonographically detected fetal anomalies were analyzed. The majority of patients were referred for advanced maternal age or abnormal ultrasound findings on screening exam. Oligohydramnios was the most common sonographic finding, present in 55% of affected fetuses. Intrauterine growth restriction and increased nuchal thickness were slightly less frequent.     

Prenatal ultrasonic diagnosis of arteriovenous malformation of the vein of Galen

A case of an arteriovenous malformation of the vein of Galen diagnosed in utero by ultrasound is presented. Upon review of the literature only two cases of prenatal sonographic diagnosis of this entity have been described. The prenatal sonographic features of this rare disorder are discussed.     

胎儿Dandy-Walker综合征6例分析及文献复习

目的：探讨胎儿Dandy-Walker综合征的超声影像学特征、诊断及处理。方法：总结6例胎儿Dandy-Walker综合征病例,复习有关文献,讨论胎儿Dandy-Walker综合征的超声影像学特征、诊断及处理。结果：6例患者中有3例于妊娠中期超声检查发现胎儿Dandy-Walker综合征,经羊膜腔穿刺胎儿核型分析发现染色体异常后引产,另3例于妊娠晚期超声发现胎儿Dandy-Walker综合征,1例引产,2例分娩后CT检查未发现明显异常。结论：掌握胎儿Dandy-Walker综合征的超声影像学特征,早期识别,及时产前诊断,正确处理,对降低Dandy-Walker综合征胎儿出生率至关重要。     

Antenatal sonographic findings of agenesis of corpus callosum

Agenesis of the corpus callosum is a central nervous system anomaly that may be associated with other intracranial abnormalities. It is easily diagnosed in the postnatal period by computed tomographic scan and ultrasound. However, its prenatal sonographic diagnosis remains a challenge. This report will evaluate three cases of fetal agenesis of the corpus callosum, review the antenatal sonographic findings and postnatal outcomes, and provide criteria for the antenatal diagnosis.     

Prenatal diagnosis of congenital neuroblastoma. Analysis of 4 cases and review of the literature

OBJECTIVE: Advances in prenatal diagnostics during the last 10 years have enabled the examiner to detect even rare fetal disorders such as fetal tumours. Congenital neuroblastoma is the most frequent solid neoplasm in infancy, with a retroperitoneal cystic or solid mass being a sonographic sign of the conditions. METHODS: We present 4 cases of neuroblastoma showing suspicious prenatal ultrasound findings. The investigation comprises detection during pregnancy, typical sonographic signs, as well as the postnatal outcome. In addition, a review of the literature is undertaken with a focus on prenatal sonographic signs of congenital neuroblastomas. RESULTS: In all 4 cases, a cystic tumour was detected during the 3rd trimester of pregnancy by means of B-mode sonography. One boy died of disseminated metastases at the age of 26 months. The other 3 survived after surgery and have remained healthy. CONCLUSIONS: The detection of a cystic suprarenal mass is suspicious of a congenital neuroblastoma. The delivery should take place at a perinatal centre.     

Focal sonographic periventricular pattern associated with mild ventriculomegaly in foetal cytomegalic infection revealing cytomegalic encephalitis in the third trimester of pregnancy

OBJECTIVES: To report focal sonographic periventricular pattern related to residual germinal matrix lesions in foetal cytomegalic infection in association with mild ventriculomegaly seen during the third trimester of pregnancy correlating with neuropathological findings of encephalitis. METHODS: We reviewed prenatal cerebral sonographic examination performed in three patients, during the third trimester of pregnancy, looking for either late 'isolated' ventriculomegaly (n = 2) or sonographic follow-up of cerebral structures following a known primary CMV infection in the early stage of pregnancy (n = 1). In cases of isolated ventriculomegaly, serological examination identified prenatal CMV infection. Magnetic resonance imaging (MRI) was performed in all cases. Imaging findings were compared with those following neuropathological examination. RESULTS: In all cases, ultrasound examination revealed an abnormal focal symmetrical bilateral periventricular pattern on the mid-lateral border of the lateral ventricles, including a mainly hyperechogenic lesion containing a few microcysts (case 1), a mixture of echogenic tissue and cysts (case 2) and mainly cystic areas (case 3). No alteration of cephalic biometry was noted. Neuropathological examination correlated these abnormal areas with lesions of the residual germinal matrix including inflammation and necrosis, but revealed also an extensive inflammatory process of the whole foetal brain. CONCLUSIONS: This focal sonographic periventricular pattern associated with mild ventriculomegaly without any abnormalities of the cerebral and cerebellar organogenesis nor cephalic biometry alteration in the third trimester of pregnancy should be considered as a marker of encephalitis following CMV infection of the foetal brain.