Use of three-dimensional ultrasound imaging in the diagnosis of prenatal-onset skeletal dysplasias.

OBJECTIVE: Recognition of prenatal-onset skeletal dysplasias has improved with advances in ultrasound imaging. Skeletal abnormalities can be recognized by two-dimensional (2D) ultrasound, but generating a precise diagnosis can be challenging. We aimed to determine whether three-dimensional (3D) imaging conferred any advantages over 2D imaging in these cases. METHODS: We studied five women with fetuses of 16-28 gestational weeks referred for abnormal ultrasound skeletal findings. First 2D and then 3D sonography was performed and the results compared. RESULTS: The pregnancies resulted in the following skeletal dysplasias: thanatophoric dysplasia, achondrogenesis II/hypochondrogenesis, achondroplasia, chondrodysplasia punctata (rhizomelic form) and Apert's syndrome. For all five fetuses, the correct diagnosis was made in the prenatal period by analysis of the 2D images. In each case the 3D images confirmed the preliminary diagnosis and for many findings it improved the visualization of the abnormalities. CONCLUSION: The 3D imaging had advantages over the 2D imaging when it came to evaluation of facial dysmorphism, relative proportion of the appendicular skeletal elements and the hands and feet. Most importantly, the patient and referring physician appreciated the 3D images of the abnormal findings more readily which aided in counseling and management of the pregnancy.     

Antenatal detection of skeletal dysplasias.

OBJECTIVE: To assess the accuracy of the prenatal diagnosis of skeletal dysplasias. METHODS: All antenatally detected anomalies are coded in our ultrasound database, which is linked with a genetics database that includes outcomes. A final diagnosis is sought on the basis of radiographic studies, molecular testing, or both. Our ultrasound and genetics databases were queried for "skeletal dysplasias." All cases were reviewed specifically for the degree of bone shortening and other distinguishing characteristics on antenatal sonography. RESULTS: Thirty-seven cases of skeletal dysplasia were antenatally diagnosed over an 8-year period. Complete follow-up was available in 31 cases. The mean gestational age at diagnosis was 22.7 weeks (range, 14-32.3 weeks). Twenty-one cases were diagnosed before 24 weeks. A final diagnosis was obtained in 80% of cases. The antenatal diagnosis was correct in 20 (65%) of 31 cases. There were 2 false-positive diagnoses. Specific final diagnoses included thanatophoric dysplasia (8), osteogenesis imperfecta (6), Roberts syndrome (2), achondroplasia (3), Ellis-van Creveld syndrome (1), metaphyseal dysplasia (1), spondyloepiphyseal dysplasia (1), distal arthrogryposis (1), caudal regression (1), and glycogen storage disorder (1). The condition was correctly thought to be lethal in 16 of the fetuses on the basis of early severe long bone shortening (13), femur length-abdominal circumference ratio of less than 0.16 (12), hypoplastic thorax (10), marked bowing or fractures (4), short ribs (4), caudal regression (1), and cloverleaf skull (1). The ability to predict lethality was 100%. There were no false-positive findings with respect to lethality. CONCLUSIONS: Accurate antenatal diagnosis of skeletal dysplasias is problematic; in this series, only 20 of 31 cases were correctly diagnosed. However, the antenatal prediction of lethality was highly accurate. The most common predictors of lethal skeletal dysplasias included early and severe shortening of the long bones, femur length-abdominal circumference ratio of less than 0.16, hypoplastic thorax, and certain distinguishing characteristics.     

Ultrasonographic diagnosis of second-trimester skeletal dysplasias: a prospective analysis in a high-risk population.

Sixteen pregnancies in 15 women at high genetic risk for having fetuses with skeletal dysplasias were examined by use of ultrasonography during the second trimester. In addition to the routine examination of fetal head and body, the fetal calvarium, spine, ribs, pelvis, and long bones were specifically evaluated for bone brightness, deformity, fractures, and inappropriate growth. It was determined that 11 of the 16 fetuses were normal and five were abnormal. At birth, all 11 ultrasonographically determined normal fetuses were normal, and at birth or elective termination of pregnancy the other five were abnormal. All abnormalities detected by ultrasonography in the affected fetuses were found at delivery, including decreased bone brightness, deformity of the head and long bones, and fractures and abnormal growth of the long bones. On the basis of this study, it is felt that ultrasonography is highly accurate for the diagnosis of many second-trimester skeletal dysplasias.     

Fetal magnetic resonance imaging in the prenatal diagnosis of cerebellar hemorrhage.

We report the case of a fetus with a sonographic mid-gestation diagnosis of hyperechogenic cerebellum suspected to be of hemorrhagic origin on fetal brain magnetic resonance imaging (MRI). No etiological factors for fetal hemorrhage were found other than a maternal heterozygocity for factor V Leiden. Following termination of the pregnancy, autopsy confirmed the prenatal diagnosis of massive cerebellar hemorrhage without underlying vascular anomaly. As an additional tool to ultrasonography, fetal brain MRI can affirm the hemorrhagic origin of hyperechogenic cerebellar lesions, especially by showing a high signal on T1-weighted images.     

Acquired aorta-pulmonary artery fistula: diagnosis by multiple imaging modalities.

Acquired communication between the aorta and the pulmonary artery is a rare phenomenon. We describe two patients with a thoracic aortic aneurysm in whom the diagnosis of a communication with the pulmonary artery was first made on transthoracic echocardiography and then more completely elucidated by means of multiple imaging modalities: transesophageal echocardiography, epiaortic ultrasound, computed tomography, and magnetic resonance imaging. Representative images from these complementary studies are presented. A successful repair of the fistula was subsequently accomplished in both patients.     

Newer diagnostic modalities for pulmonary embolism. Pulmonary angiography using CT and MR imaging compared with conventional angiography.

CTPA is a highly sensitive and excellent primary method for evaluating patients with symptoms of PE. Ongoing studies will demonstrate the good clinical outcome of patients with negative CTPA results. The ability to visualize the lung parenchyma in addition to the pulmonary vasculature, and the smaller number of nondiagnostic scans, make CT more cost effective than V/Q scans, and CT therefore should be used as a first-line evaluation. MR imaging is a continually developing modality with more imaging options that could make it an invaluable or adjunctive test in the near future.     

Fetal biometry of skeletal dysplasias: a multicentric study.

Twenty-three diagnostic centers worldwide contributed 127 cases of 17 skeletal dysplasias. Discriminant analysis showed that the femur length was the best biometric parameter to distinguish among the five most common disorders in this series (thanatophoric dysplasia, osteogenesis imperfecta type II, achondrogenesis, achondroplasia and hypochondroplasia). Fifty-four percent of fetuses with femur length below 30% of the mean for gestational age had achondrogenesis. Seventy-eight percent of measurements between 40 and 60% of the mean for gestational age represented either thanatophoric dysplasia or osteogenesis imperfecta type II. Fetuses who had over 80% of the mean for gestational age had predominantly hypochondroplasia, achondroplasia, and osteogenesis imperfecta type III.     

Fetal biometry of skeletal dysplasias: a multicentric study.

Twenty-three diagnostic centers worldwide contributed 127 cases of 17 skeletal dysplasias. Discriminant analysis showed that the femur length was the best biometric parameter to distinguish among the five most common disorders in this series (thanatophoric dysplasia, osteogenesis imperfecta type II, achondrogenesis, achondroplasia and hypochondroplasia). Fifty-four percent of fetuses with femur length below 30% of the mean for gestational age had achondrogenesis. Seventy-eight percent of measurements between 40 and 60% of the mean for gestational age represented either thanatophoric dysplasia or osteogenesis imperfecta type II. Fetuses who had over 80% of the mean for gestational age had predominantly hypochondroplasia, achondroplasia, and osteogenesis imperfecta type III.     

先天性骨骼系统畸形及产前超声诊断进展

先天性骨骼系统畸形种类繁多,受累部位广泛,症状有重叠,常以短肢畸形为主要表现,严重影响功能甚至直接导致新生儿死亡,给患者及家属带来很大痛苦。产前超声是发现胎儿骨骼肢体畸形的首选检查方式,重视骨骼肢体超声扫查是诊断骨骼肢体畸形与避免漏诊的基础。本文主要综述产前超声在诊断骨骼系统异常方面的作用及进展。     

影像学检查在蝶窦占位性病变诊断中的应用

蝶窦占位性病变是一类症状隐匿、临床相对罕见的疾病.复习相关文献,对各种蝶窦占位性病变的影像学特征及相关解剖、临床症状、体征进行综述,探讨影像学检查在蝶窦占位性病变诊断中的应用.资料表明,影像学检查特别是CT、MRI对蝶窦占位性病变的鉴别诊断与确诊、治疗与预后判断均具有重要参考价值.CT在显示骨性病变方面具有一定优势,MRI则更适于软组织显像,均可作为该病的常规检查.     

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.     

Newer developments in the diagnosis and staging of breast cancer.

Tremendous changes have occurred in the diagnosis and staging of breast cancer. There are more sophisticated diagnostic techniques available and new developments in prognostic indicators that have altered decisions regarding adjuvant treatment. In the near future, progress in quantity and quality of survival may be linked to early diagnosis and precise staging of the disease.     

A review of cardiac imaging modalities.

Cardiac catheterization has been the "gold standard" to evaluate cardiac anatomy and severity of physiological dysfunction. However, this procedure is limited by its invasive nature. Recent technological advances have provided noninvasive cardiac imaging methods that delineate cardiac structures and assess myocardial perfusion, function, and metabolism. Echocardiography is used in the assessment of left ventricular (LV) hypertrophy, LV dilatation, LV wall motion, and the cardiac valves. Radioisotope imaging methods are used to evaluate myocardial perfusion while blood pool scintigraphy is used to assess myocardial function. The purpose of this article is to describe current noninvasive and invasive imaging technologies available for the diagnosis and evaluation of cardiac disorders including the chest radiograph, echocardiography, radioisotope imaging methods, blood pool scintigraphy, and cardiac catheterization. Future technologies (positron emission tomography, magnetic resonance imaging, and ultrafast cardiac computed tomography) are also discussed.     

Difficulties in the prenatal diagnosis of microcephaly.

Our objective was to determine whether the diagnosis of microcephaly present at birth is apparent using standard biometry in the second trimester. Fetuses with prenatally suspected microcephaly (biparietal diameter > or = 3 standard deviations below mean) who had a first sonogram prior to 22 weeks' gestation and a confirmation of microcephaly after birth were included in the study. We excluded all fetuses who had neural tube defects or other major associated abnormality that would lead to a suspicion of microcephaly. We therefore included fetuses who either had normal-appearing brains sonographically or intracranial calcifications as the only sonographic abnormality seen prior to 22 weeks' gestation. Seven fetuses met these criteria. One fetus was diagnosed as having microcephaly prior to 22 weeks' gestation. The other six fetuses had a normal head size prior to 22 weeks' gestation and were diagnosed as having microcephaly at 27 weeks' gestation and later. Only one of the seven fetuses had a karyotypic abnormality. We conclude that the prenatal diagnosis of microcephaly is not excluded by normal biometry on second trimester sonography.