Dandy-Walker综合征及其产前超声诊断进展

Dandy-Walker综合征（DWS）,又称Dandy—Walker畸形,Dandy-Walker氏囊,先天性第四脑室中、侧孔闭塞等,是以第四脑室和小脑发育障碍为主的先天畸形。Dandy—Walker综合征可以分为典型和变异型两种类型,发病率为1/30000。国内外对其报道较少,仅有散发的病例报道及少量临床研究性报道。     

子宫发育异常的MRI诊断

目的探讨磁共振成像对子宫发育异常的诊断价值.方法 18例子宫发育异常患者行常规磁共振检查.子宫发育异常分型参照美国生育协会的标准.结果幼稚子宫1例,残角子宫1例,双子宫4例,双角子宫7例,纵隔子宫5例.MRI检查结果与临床诊断符合率为100%.结论磁共振可以为子宫发育异常提供明确的诊断和分型依据,是一项简单可行而且准确无损伤的检查方法.     

Drug safety in pregnancy--monitoring congenital anomalies

morgan m., de jong -van den berg l.t.w. & jordan s. (2011) Journal of Nursing Management  19 , 305–310
Drug safety in pregnancy – monitoring congenital anomalies Aim This paper outlines research into the causes of congenital anomalies, and introduces a pan-European study. The potential roles of nurses and midwives in this area are illustrated by a case report. Background Since the thalidomide disaster, use of drugs in pregnancy has been carefully monitored to prevent anything similar happening again. However, monitoring is incomplete and questions remain unanswered. Key issues Many medicines are essential for the health of pregnant women. However, drug use in pregnancy requires surveillance. Methods include spontaneous reporting of adverse events, cohort studies and case control studies. It is hoped that a Europe-wide study, combining data from several congenital anomaly registers, will provide a sufficiently large population to assess the impact of selected drugs on congenital anomalies. However, this work depends on the consistency of reporting by nurses and midwives. Conclusion Drug safety in pregnancy remains undetermined. Collaboration across Europe has the potential to provide a framework for safety evaluation. Implications for nursing management Prescribers should consider the possibility of pregnancy in women of child-bearing age. Careful review of maternal drug use in early pregnancy is essential. Midwives and nurses should be aware of adverse event drug reporting systems, including congenital anomaly registers.     

1例Dandy-Walker综合征合并Xq28重复综合征胎儿的遗传学分析

目的对1例超声检查提示为Dandy-Walker综合征和先天性心脏病的胎儿进行遗传学分析。方法取引产胎儿的皮肤样本,进行单核苷酸多态性微阵列分析(single nucleotide polymorphism array, SNP array),并采用多重连接依赖探针扩增技术(multiplex ligation-dependent probe amplification, MLPA)进行验证。胎儿父母外周血样本进行荧光原位杂交(fluorescence in situ hybridization, FISH)分析。结果 SNP array分析结果显示胎儿染色体6p25.3p25.1存在5.4 Mb缺失,Xq28存在4.2 Mb重复,均为致病性拷贝数变异。MLPA验证结果与SNP array结果一致。胎儿父母外周血的FISH分析结果显示未发现相关片段的缺失、重复或易位等异常。结论胎儿6p25.3p25.1缺失和Xq28重复均为新发变异,可能与超声提示Dandy-Walker综合征和先天性心脏病有关。     

经阴道超声诊断先天性苗勒管异常的价值

目的探讨经阴道超声(TVS)在先天性苗勒管异常鉴别诊断中的作用与意义.方法应用经阴道彩色超声技术,观察子宫外形轮廓与宫腔内膜分布,对72例异常患者进行回顾分析.结果Ⅰ组:单纯性异常26例,Ⅱ组:合并早期妊娠(12周内)46例,分别显示其形态结构特征及鉴别要点.结论先天性苗勒管异常是病理妊娠和产科、计生并发症的重要原因;经阴道超声检查对先天性苗勒管异常的诊断有重要价值,是一项实用,简便,安全,可靠,可作为首选的诊断方法.     

Multiple congenital anomalies associated with infantile achalasia

Achalasia is rare in the pediatric age group, particularly in, the neonate and young infant. The symptoms are often nonspecific and may not even suggest a primary esophageal disorder. This is a report of two cases of achalasia seen in neonates, both of whom had other unusual and exceedingly uncommon congenital abnormalities.Presented at the meeting of the Society for Pediatric Radiology, 1978     

Magnetic resonance imaging evaluation of congenital heart disease: conotruncal anomalies.

Conotruncal anomalies comprise a diverse group of congenital heart defects involving the outflow tracts of the heart and the great vessels, including tetralogy of Fallot, transposition of the great arteries, truncus arteriosus, interrupted aortic arch, and other anomalies. Cardiovascular magnetic resonance (CMR) imaging plays an increasingly important role in the evaluation of patients with these lesions. Advances in CMR allow comprehensive assessment of cardiovascular anatomy, ventricular function, flow, and myocardial perfusion and viability. This article reviews the clinical aspects and the application of CMR before and after surgery in key conotruncal anomalies.     

CT of congenital anomalies of the inferior vena cava

The authors report six congenital abnormalities of the inferior vena cava detected on computed tomography (CT). The CT findings of one of these, the left inferior vena cava, have not been previously reported. The embryology of the inferior vena cava and the possible congenital abnormalities that can occur are discussed. Congenital abnormalities of the inferior vena cava are rare but potentially important to the radiologist, the surgeon, and the patient. They are easily identified on CT and should be considered when interpreting any CT of the abdomen or chest.     

The primary care physician's approach to congenital anomalies

Children with congenital anomalies often represent a special diagnostic and management challenge. To provide optimal care for these children, one must employ a systematic approach to identify the likely pathogenic mechanism leading to the birth defects present.Determining how distinct anomalies relate to one another may lead to elucidation of a specific genetic etiology for the patient's condition. Genetic testing is increasingly available to allow for diagnostic confirmation. Using this systematic approach to a child with congenital anomalies permits accurate prognostic and recurrence risk counseling, informed management decisions, and the appropriate allocation of social support and medical resources.     

Rare congenital anomalies simulating upper cervical spine fractures

Congenital anomalies of the cervical spine are rare, especially those involving the atlas. Two cases are reported, one each of an unfused anterior arch and an unfused posterior arch of C1 that on plain film radiographs simulated unusual odontoid fractures. A general discussion of the development of the dens and the atlas follows.     

先天性冠状动脉畸形的超声心动图诊断

目的探讨超声心动图诊断小儿先天性冠状动脉畸形的意义。方法对本院诊治的30例先天性冠状动脉畸形的超声心动图结果与心血管造影、手术结果进行分析比较。结果冠状动脉异位开口于肺动脉4例,占13%;单支冠状动脉畸形3例,占10%;冠状动脉瘘23例,占77%,累及右冠状动脉12例（52%）,其中多个瘘口1例,左冠状动脉11例（48%）,瘘入右侧心腔11例（48%）,瘘入肺动脉11例（48%）,瘘入左侧心腔1例（4%）。冠状动脉畸形中伴有其他先天性畸形6例（26%）。超声心动图诊断敏感性93%,特异性100%。其中对冠状动脉瘘及瘘口的形态、数目、瘘入的部位准确性达100%,对冠状动脉异位开口于肺动脉及单支冠状动脉畸形各有1例误诊为弹力纤维增生症。结论超声心动图对先天性冠状动脉畸形有较高的诊断价值,可作为首选诊断方法。对心脏扩大、心内膜增厚、心功能弥漫性降低的弹力纤维增生症样超声心动图改变必须保持对冠状动脉畸形的警惕性,应仔细探测左右冠状动脉及分支,并结合心电图等临床资料进行分析。     

Chromosomal anomalies in fetal congenital heart disease.

A series of 467 cases of congenital heart disease detected in prenatal life were analyzed to identify the forms of cardiac malformation associated with karyotypic defects and to calculate the incidence of chromosomal abnormalities associated with such malformations. Of these, 77 were proved to have chromosomal anomalies although not all were karyotyped.The results were analyzed in two ways. First, the whole series of 77 cases was examined in order to describe the form of congenital heart disease found in association as, although many cases were forms of heart disease known to be associated with chromosomal defects, several were unexpected. In many cases which proved positive, there were other abnormal findings on ultrasound, further suggesting a high likelihood of a chromosomal defect. Some cardiac defects, however, such as atrial isomerism or transposition of the great arteries, were not associated with trisomies.The second part of the study examined in detail the records of 124 cases of congenital heart disease seen in 1989, as these were more completely documented than the previous cases. No chromosomal anomaly was therefore thought to be missed. Of this group, 20 (16%) proved positive. This is a higher rate than would be expected in an unselected population of live births. The difference between prenatal and postnatal life can be accounted for by the increased rate of spontaneous fetal loss in those with chromosomal defects.We conclude that, because of the high rate of chromosomal anomaly, all continuing pregnancies where congenital heart disease has been found in the fetus should be karyotyped unless specific types of heart defect which are rarely associated are confidently defined.