Umbilical Cord Cysts

Objective. The purpose of this series was to determine whether the use of different 3‐dimensional (3D) sonographic modes allows better definition of umbilical cord cysts and pseudocysts in utero. Methods. Two cases of umbilical cord cysts and 1 of a pseudocyst were analyzed and compared with 2‐dimensional (2D), 3D, angiopower Doppler, tomographic ultrasound imaging (TUI), virtual organ computer‐aided analysis (VOCAL), and automatic volume calculation (AVC) sonographic modes. All cases were followed during pregnancy. A karyotype analysis was also obtained. Results. Three‐dimensional sonography, TUI, and VOCAL allowed clear visualization and evaluation of the sizes, locations, and numbers of umbilical cord cysts. A clear differentiation between a pseudocyst and the yolk sac was obtained with AVC and angiopower Doppler sonography. The 3D sonographic surface mode allowed better visualization of other accompanying fetal malformations. Conclusions. Three‐dimensional sonography allows for a more accurate diagnosis and provides a clearer visualization of malformations than 2D imaging. Cysts and pseudocysts can be defined much more accurately by using the different modes described here.     

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 schizencephaly with 2D‐3D sonography and MRI

We report a case of schizencephaly diagnosed prenatally at 23 weeks of gestational age with two‐dimensional (2D) and three‐dimensional (3D) sonography and fetal brain MRI, confirmed by autopsy. The diagnostic method of choice is 2D transabdominal and transvaginal sonography, whereas additional 3D sonography and MRI may provide a better understanding of the pathology and related findings. © 2009 Wiley Periodicals, Inc. J Clin Ultrasound, 2009     

Prenatal detection of fetal trisomy 18 through abnormal sonographic features.

OBJECTIVE: To describe the prenatal detection of fetal trisomy 18 through abnormal sonographic features and to determine the sensitivity of sonographically detecting fetuses with trisomy 18. METHODS: All genetic and cytogenetic records of fetuses with trisomy 18 were reviewed retrospectively (1992-2002). From these, singleton fetuses who had prenatal sonography at our unit were identified. The maximal numbers of individual abnormalities from 1 sonographic examination (not limited to type of organ system) were recorded. Each abnormality was classified as major, minor, or "other," and each organ system was classified as abnormal only once, regardless of the number of individual abnormalities identified in that system. The sensitivity of sonography in detecting abnormalities of trisomy 18 was determined. RESULTS: Of 38 fetuses identified with trisomy 18, all had 4 or more prenatally detected sonographic abnormalities (sensitivity of sonographic detection of fetuses with trisomy 18, 100%). The median number of abnormalities per examination was 8 (range, 4-19). Sonographically detected major abnormalities were cardiac (84%; n = 32), central nervous system (87%; n = 33), gastrointestinal (26%; n = 10), and genitourinary (16%; n = 6). Sonographically detected minor abnormalities were short ear length below the 10th percentile for gestational age (96%; n = 26/27), upper extremities and hands (95%; n = 36), lower extremities and feet (63%; n = 24), and face (53%; n = 20). Fifty percent (19 of 38) had choroid plexus cysts identified, but this was never an isolated finding. CONCLUSIONS: In experienced hands, the sensitivity of detecting fetal trisomy 18 on prenatal sonography is 100%, and all cases will have multiple anomalies visualized.     

Prenatal diagnosis of vertebral deformities associated with pentalogy of Cantrell: The role of three‐dimensional sonography?

Pentalogy of Cantrell was diagnosed in a fetus at 14 weeks of gestation, on routine two‐dimensional sonographic examination with Doppler imaging, which revealed a midline supraumbilical abdominal wall defect including herniated liver, an ectopia cordis without intracardiac anomalies, and a large omphalocele containing intestines. Although left unilateral club foot deformity was also detected as an associated anomaly in the same examination, severe lumbar lordoscoliosis was only detected by using three‐dimensional sonography because of the spatial configuration of the deformity. After termination of the pregnancy, postnatal inspection of the fetus confirmed the diagnosis of pentalogy of Cantrell associated with skeletal deformities and revealed low implant ears as an additional finding. Although two‐dimensional sonography with Doppler imaging is sufficient to diagnose pentalogy of Cantrell, it may fail to show the complex vertebral deformities and three‐dimensional sonography may assist in visualizing the defect accurately. © 2010 Wiley Periodicals, Inc. J Clin Ultrasound 38:446–449, 2010     

Two‐ and three‐dimensional prenatal sonographic diagnosis of prune‐belly syndrome

We report the prenatal diagnosis of 6 cases of Prune‐belly syndrome in the 2^nd trimester. The sonographic diagnosis was based on the findings of oligohydramnios, renal anomalies, and a lower abdominal cystic mass representing the abnormal dilatation of the bladder on conventional 2‐dimensional sonographic examination. We discuss the role of Doppler imaging and 3‐dimensional sonography as complementary methods to conventional sonography. Four of our 6 cases were confirmed with associated defects. © 2009 Wiley Periodicals, Inc. J Clin Ultrasound, 2010     

First-trimester diagnosis of body stalk anomaly using 2- and 3-dimensional sonography

To determine the sonographic features of body stalk anomaly in the first trimester using 2-dimensional (2D) and 3-dimensional (3D) sonography, we conducted a retrospective analysis of all nuchal translucency sonographic examinations performed between January 1, 2006, and January 1, 2010, at our institution. From a total of 6952 nuchal translucency sonographic examinations, 4 cases of body stalk anomaly were identified. All cases were characterized by an absent umbilical cord and a large ventral wall defect with herniation of the abdominal contents into the extraembryonic coelom. Associated features included kyphoscoliosis, limb defects, and enlarged nuchal translucency measurements. Three-dimensional sonography was a useful adjunct to 2D techniques in determining the precise relationship of fetal structures to the amniotic cavity. Our case series emphasizes the importance of a thorough anatomic survey at the time of nuchal translucency screening and the value of 3D sonography in the delineation of first-trimester anomalies.     

Pregnancy outcome of fetuses with a diagnosis of hypoplastic left ventricle on prenatal sonography.

OBJECTIVE: The goal of our study was to assess the pregnancy outcome of fetuses with a diagnosis of hypoplastic left heart syndrome (HLHS) on prenatal sonography to determine the frequency of intrauterine fetal demise (IUFD) and any factors associated with IUFD. METHODS: We reviewed all cases with the diagnosis of HLHS on prenatal sonography at our institution from 1992 through 2003. Data collected included gestational age at diagnosis, sonographic findings, karyotype testing, and pregnancy outcome. RESULTS: Our study included 176 fetuses with HLHS. One hundred thirty-four fetuses were liveborn; 32 pregnancies were terminated; 3 IUFDs occurred; and outcome was unknown in 7. Of the 134 liveborn fetuses, 2 had abnormal karyotypes and 30 had other anomalies. Two of the 3 fetuses with IUFD had abnormal karyotypes, 1 with trisomy 13 and 1 with trisomy 18, and both had other anomalies on sonography. The third fetus with IUFD had no other anomalies but was 1 of triplets, and the karyotype was unknown. CONCLUSIONS: Fetuses with HLHS diagnosed prenatally who have normal chromosomes are unlikely to die in utero.     

Outcome of fetuses with clubfeet diagnosed by prenatal sonography.

OBJECTIVE: To determine the outcome of fetuses with clubfoot diagnosed by prenatal sonography. METHODS: We identified all fetuses scanned at our institution from May 1989 to May 2002 in whom clubfoot was suspected or diagnosed on prenatal sonography. From maternal and neonatal medical records, we collected the following information when available: unilateral or bilateral clubfoot, gestational age at diagnosis, other sonographic findings, and pregnancy outcome, including pathologic reports and neonatal findings at birth. RESULTS: One hundred twenty-one fetuses had prenatal sonographic suspicion or diagnosis of clubfoot. Twenty-two had no follow-up information, and 12 fetuses were terminated with fetal parts that could not be evaluated at pathologic examination, leaving 87 study cases. Outcome information was from neonatal records in 51 and from pathologic reports in 36. The gestational age at diagnosis ranged from 12.3 to 39.2 weeks, with a mean of 22.2 weeks. Forty-two (48%) had unilateral clubfoot, and 45 (52%) had bilateral clubfoot on sonography. The false-positive rate was significantly higher with unilateral clubfoot than bilateral clubfoot (12 [29%] of 42 versus 3 [7%] of 45; P < .05). Other anomalies were more common with bilateral clubfoot than with unilateral clubfoot (34 [76%] of 45 versus 23 [55%] of 42; P < .05), the most common being other musculoskeletal anomalies, neural tube defects, and cardiovascular anomalies. Of fetuses with information about chromosomes, the rates of aneuploidy were similar for unilateral and bilateral clubfoot (5 [28%] of 18 versus 10 [32%] of 31; P > .05). CONCLUSIONS: Fetuses with an antenatal sonographic diagnosis of clubfoot often have other anomalies, aneuploidy, or both. The false-positive rate for diagnosis of clubfoot is higher for unilateral clubfoot than bilateral clubfoot. The rate of associated anomalies is higher with bilateral clubfoot than unilateral clubfoot.     

Fine‐tuning the Diagnosis of Fetal Scalp Cysts

Objective. The purpose of this series is to emphasize the importance of an exhaustive and appropriately conducted sonographic examination in the correct diagnosis of fetal cystic scalp lesions and the place of magnetic resonance imaging (MRI) in the diagnostic sequence. Methods. Transabdominal and transvaginal 2‐ and 3‐dimensional sonography with color and power Doppler imaging as well as 3‐dimensional rendering techniques such as inversion and Doppler angiography were used. In 1 case, an MRI study was performed. Results. In 1 case, the MRI missed and the different sonographic techniques correctly made the diagnosis of a meningocele. In the second case, sonography was sufficient to establish the diagnosis of an epidermal cyst. Conclusions. These 2 cases show the value of going the distance with the newly available high‐frequency sonography. Ultimately, the correct diagnoses were made with the tools offered by sonography without the need for any other imaging modality.     

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.     

三维超声成像对特殊类型子宫畸形的诊断研究

目的探讨经阴道子宫冠状面三维超声成像对特殊类型子宫畸形的诊断价值。方法对可疑子宫畸形的病例分别行经阴道二维扫查或三维扫查诊断，比较两组不同种类子宫畸形的构成比，总结特殊类型子宫畸形声像特征。结果共诊断302例子宫畸形，行二维扫查可获得明确诊断127例，行三维超声获得诊断175例。两组诊断子宫畸形种类的构成比有明显差异（P=0．001），三维超声诊断特殊类型子宫畸形明显多于二维超声（P=0．001）。结论采用子宫冠状切面三维超声成像能够得到子宫发育异常的准确信息，对于临床少见的疑难、复杂的子宫畸形能够起到精确诊断、指导临床处理的作用。     

三维超声对妊娠前及早期妊娠阶段意外接触致畸物质者胎儿结局的监测

【目的】探讨现代导致胎儿畸形的因素的变化和胎儿预后的监测手段。【方法】对112例在妊娠前期、妊娠早期意外的、非意愿性、或非认知性接触理化物质导致或可疑导致胎儿畸形的孕妇,进行首诊后的系列三维超声检测。对确定有畸形的胎儿实施引产并验证三维超声的诊断。【结果】共计有3例肠膨出、1例多囊肾,1例脑积水,2例唇裂,1例脑部畸形(额部肿瘤)、1例马蹄内翻足,总计胎儿畸形9例,畸形发生率8.04％。并发胎儿宫内生长迟缓(IUGR)17例,占15．18％。9例畸形者中,分别有新近住房装修史者占4例,孕早期服用喹诺酮类抗生素3例,孕前及早孕阶段职业接触恶性肿瘤化疗药物1例,长期使用移动电话者1例。17例IUGR者中,孕期继续从事电脑、复印机工作者4例,妊娠合并肝炎3例。9例胎儿畸形者均由三维超声确诊并经分娩验证,三维超声诊断胎儿畸形诊断正确率为99．11％。【结论】妊娠早期或妊娠前接触致畸物质者,可引起较高发生率的围产儿不良结局,三维超声检测可作为围产期检测的常规首选手段。     

Frequency and nature of structural anomalies in fetuses with single umbilical arteries.

Published studies differ concerning the rate of anomalies occurring in the presence of a single umbilical artery and the significance of the single umbilical artery as an isolated sonographic finding. We assessed the frequency, nature, and sonographic detection of structural anomalies in fetuses with a single umbilical artery. We identified all cases in which prenatal sonography diagnosed a single umbilical artery. Cases were excluded if postnatal physical or pathologic examination demonstrated a three-vessel cord, yielding a study population of 167 cases. For each case, we recorded the gestational age at diagnosis of single umbilical artery and the findings of the sonographic fetal anatomic survey. We recorded postnatal clinical and pathologic information when available. Gestational age at time of diagnosis ranged from 16.8 to 41.1 weeks (mean, 29.2 +/- 6.5 weeks). Twenty of the 167 fetuses (12%) were twins, and the remainder were singletons. Among 118 cases with postnatal information, 37 (31%) had structural abnormalities, often involving multiple organs. The most common organ systems involved were the heart (19 cases) and the gastrointestinal (14 cases) and central nervous systems (nine cases). Five of the anomalous fetuses had abnormal karyotypes. The sonographic survey was abnormal in 31 of the 37 anomalous fetuses (84%). Among 85 cases with apparently isolated single umbilical artery at sonography and known fetal outcome, six (7%) proved to be anomalous at birth. We had two sonographic false-positive results (mild hydronephrosis, suspected skeletal dysplasia). In summary, approximately one third of fetuses with single umbilical artery have structural anomalies, most often cardiac. Even when the single umbilical artery is an apparently isolated sonographic finding, the likelihood that the neonate will prove to have structural anomalies is considerable (7% in our series).     

Fetal Megacystis

The purpose of our retrospective observational series was to determine whether the sonographic characteristics of fetal megacystic bladders can be used to reliably establish the most likely diagnosis in fetuses with this condition. The sonographic records of pregnant patients referred to our institutions over a 10‐year period who were found on initial 2‐dimensional sonography to be carrying fetuses with megacystis were examined for evidence of a keyhole sign, bladder thickness, amniotic fluid index, and fetal sex. When available, 3‐/4‐dimensional sonography, Doppler angiography, tomographic ultrasound imaging, virtual organ computer‐aided analysis, and automatic volume calculation were used as part of the detailed fetal anatomic survey. Twenty fetuses with megacystis were identified. Seventeen were male; 2 were female; and 1 had ambiguous genitalia. All male fetuses with megacystis originally had a diagnosis of prune belly syndrome. The diagnosis for 10 male fetuses with a keyhole sign was changed to megacystis secondary to posterior urethral valves. The fetus with ambiguous genitalia had prune belly syndrome. One of the female fetuses had a diagnosis of urethral atresia, and the diagnosis for the other female fetus was megacystis‐microcolon‐intestinal hypoperistalsis syndrome. In conclusion, in fetuses with megacystic bladders, it is possible to distinguish between cases with prune belly syndrome, posterior urethral valves, urethral atresia, and megacystis‐microcolon‐intestinal hypoperistalsis syndrome by a detailed anatomic survey using 2‐ and 3‐/4‐dimensioinal sonographic techniques.     

Sonographic detection of trisomy 13 in the first and second trimesters of pregnancy.

OBJECTIVE: The purpose of this study was to examine sonographic findings in fetuses with trisomy 13. METHODS: A retrospective review of the cytogenetic laboratory databases at 6 tertiary referral centers identified all cases of trisomy 13. The prenatal sonographic studies in fetuses of less than 22 weeks' gestation, done before invasive testing for karyotype, were reviewed for anatomic and biometric findings. We defined abnormal fetal biometric findings as a biometric measurement (biparietal diameter, abdominal circumference, or femur length) below the fifth percentile in the second trimester. RESULTS: There were 8 cases of trisomy 13 found in the first trimester and 54 cases found in the second trimester, a total of 62 in all. In the first trimester, 6 of 8 had an anomaly identified (4 with cystic hygroma). In the second trimester, 49 of 54 were identified by sonography; 45 had an anomaly, and 4 had an abnormal fetal biometric measurement without an anomaly. The 5 missed diagnoses had early gestational age (<17 weeks; n = 3) or an inadequate survey secondary to poor visualization. Overall, 22 of 54 fetuses with trisomy 13 had an abnormal biometric measurement. The most common anomalies detected in the second trimester were heart defects (n = 34), central nervous system anomalies (n = 30), facial clefts (n = 19), abnormal hands (n = 13), and genitourinary anomalies (n = 9). CONCLUSIONS: Targeted sonography identified abnormal fetal anatomy or abnormal biometric measurements in 95% of fetuses with trisomy 13 in the second trimester after 17 weeks' gestation. A biometric measurement below the fifth percentile was noted in nearly half of cases in the second trimester.     

Split hand and foot malformation: ultrasound detection in the first trimester.

The split hand split foot malformation is a rare disorder inherited in an autosomal dominant pattern with variable expression. In our case it was detected early by ultrasound in the twelfth week of gestation. To our knowledge, this is the earliest finding by ultrasound of this malformation. The sonographic findings were bilateral split hands and split foot. No other associated malformation was observed. The pathological findings were consistent with the diagnosis of split hand split foot malformation. Prenatal diagnosis, the genetic background, and the differential diagnosis are discussed.     

Prenatal sonographic diagnosis of acrania associated with amniotic bands

We describe the prenatal sonographic findings in 2 cases of amniotic band sequence-related acrania. In the first case, sonography demonstrated acrania, asymmetric facial clefts, and digital fusion on the hands and feet. In the second case, sonography demonstrated acrania and amniotic bands adhering to the brain, face, and body. This report highlights the importance of a careful search for amniotic bands and a detailed survey of the fetus' face, digits, and body in the sonographic evaluation of fetal acrania.     

Complementary Roles of Sonography and Magnetic Resonance Imaging in the Assessment of Fetal Urinary Tract Anomalies

Objective. The purpose of our study was to determine whether fetal magnetic resonance imaging (MRI) provides additional information that might affect the obstetric management of pregnancies complicated by sonographically diagnosed fetal urinary tract anomalies. Methods. Fetal MRI and sonography were used to study 39 women with suspected fetal urinary tract anomalies in the second and third trimesters of pregnancy. Results. In 24 of 39 cases (61%), fetal MRI confirmed the sonographic diagnosis. In 14 cases (36%), fetal MRI modified the initial sonographic diagnosis and counseling but did not change obstetric management. In 1 case (3%), the addition of fetal MRI resulted in a substantial change in the management of the pregnancy. Conclusions. During the second and third trimesters of pregnancy, fetal MRI showed fetal urinary tract anomalies in excellent anatomic detail. Fetal MRI is a useful complementary tool in the assessment of sonographically diagnosed fetal urinary tract anomalies. In a small percentage of cases, it can have a substantial impact on obstetric management.     

Applications of 2-dimensional matrix array for 3- and 4-dimensional examination of the fetus: a pictorial essay.

OBJECTIVES: Two-dimensional (2D) matrix array is a new technology for the performance of 3-dimensional and 4-dimensional (4D) ultrasonography. In this study, we report the use of a 2D matrix array transducer for examination of fetal structures including the fetal heart. METHODS: Thirty-four fetuses without abnormalities and 19 fetuses with congenital anomalies were examined with a 2D matrix array transducer (x3-1, IE-33; Philips Medical Systems, Bothell, WA). Median gestational age was 25 6/7 weeks (range, 13 0/7-40 1/7 weeks). RESULTS: (1) A 360 degrees rotation and examination of selected structures was possible in the second trimester. (2) Structures were examined by maintaining the transducer in a fixed position and rotating the volume using the system trackball. (3) Dorsal and ventral parts of the hands and feet were visualized in a single volume data set, in real time, without moving the transducer. (4) Real-time en face visualization of atrioventricular valves was possible from the ventricular or atrial chambers. (5) Four-dimensional images of bones were obtained by decreasing gain settings only, with no need for cropping. (6) Four-dimensional reconstruction of vascular structures was possible with color Doppler imaging. Two limitations were identified: (1) lower resolution than mechanical volumetric transducers, and (2) narrow volume display. CONCLUSIONS: Real-time direct 4D imaging with 360 degrees rotation for examination of fetal anatomic structures is feasible. This technology allows examination of fetal structures from multiple perspectives, in real time, without the need to move the transducer in the maternal abdomen. Further technological developments may overcome the limitations identified in this study.