高危人群胎儿先天性心脏畸形的彩色多普勒超声筛查

目的研究彩色多普勒超声诊断高危人群胎儿先天性心脏畸形的临床应用价值。资料与方法对4950例孕妇进行产前胎儿超声心动图检查,具有高危因素的孕妇和胎儿是临床研究的主要对象。结果本组胎儿心脏畸形共55例,其中高危人群发生率为3.53%(19/539),正常人群发生率为0.82%(36/4411),两者比较,差异有统计学意义(χ2=30.33,P<0.05)。结论彩色多普勒超声心动图检查对诊断绝大部分严重胎儿先天性心脏畸形意义重大,具有无创、安全、准确的优点,是对高危人群产前诊断胎儿先天性心脏畸形的首选方法。     

增强MR血管造影在儿童先天性心脏病诊断中的应用

目的：评价儿童先天性心脏病（简称先心病）患者MRI检查，特别是增强磁共振血管造影术（CE－MRA）的诊断价值与不足。方法：300例儿童先天性患者作CE－MRA检查，其中173例228个心内结构异常和105个心外大血管异常已经手术证实，并与MRI及CE－MRA诊断结果作对照。结果：在228个手术证实的心内结构异常（主要为间隔缺损与瓣膜病变）中，196个诊断正确（86．0％）；在105个心外大血管异常中，101个诊断正确（96．2％）。结论：对心外大血管畸形MRI及CE－MRA有很高的诊断价值，CE－MRA是对先尽病最有价值的扫描方法之一。     

产前超声心动图在胎儿肺动脉先天发育异常及合并畸形中的应用价值

目的探讨产前超声心动图在胎儿肺动脉先天性发育异常中的诊断价值和可能性,分析其常见类型及合并其他心内畸形情况,提高对该类先天性心脏畸形的产前诊断率。方法选取我院确诊的先天性心脏病产前超声心动图资料425例,其中肺动脉先天性发育异常共89例。结果在89例患儿中肺动脉瓣狭窄占64.4%,共56例(2例肺动脉瓣狭窄漏诊),肺动脉闭锁12例,由肺动脉构成先天动脉环者14例(其中右弓左导管12例,2例双主动脉弓),肺动脉瓣缺如5例。肺动脉先天性发育异常合并其他心脏畸形者62例。结论产前超声心动图是诊断胎儿肺动脉先天性发育异常最重要的检查方法;其以肺动脉瓣狭窄最为多见;肺动脉先天性发育异常合并其他心内畸形发生率高;右位主动脉弓在肺动脉构成先天动脉环畸形中发生率最高。     

Fetal anomalies: comparison of MR imaging and US for diagnosis

PURPOSE: To compare prenatal ultrasonography (US) and magnetic resonance (MR) imaging for the diagnosis of fetal anomalies. MATERIALS AND METHODS: Images of 27 fetuses (28 diagnostic cases) with anomalies diagnosed at US were evaluated; in these fetuses, prenatal MR imaging was performed within 15 days of US. Prenatal US and MR imaging findings were compared with postnatal diagnoses. Postnatal evaluation included US, MR imaging, autopsy, surgery, voiding cystourethrography, computed tomography, angiography, and physical examination. RESULTS: In seven diagnostic cases, US and MR imaging findings were in complete agreement with postnatal diagnoses. MR imaging correctly provided additional information to the US-determined diagnosis in another seven and correctly changed the US diagnosis in three. The MR imaging-determined diagnosis was incorrect and the US diagnosis was correct in four cases. In seven cases, the diagnoses at both US and MR imaging were incorrect when correlated with the postnatal outcome. MR imaging was most valuable in the assessment of anomalies of the central nervous system. CONCLUSION: MR imaging may have a place as an adjunct to US in evaluation of fetal anomalies, particularly those involving the central nervous system.     

MRI快速扫描序列在胎儿前腹壁缺损诊断中的应用

目的：通过分析3l例胎儿前腹壁缺损在快速磁共振扫描序列中的表现,探讨MRI在胎儿前腹壁缺损诊断中的价值及其对临床治疗的指导作用。方法：回顾性分析31例胎儿前腹壁缺损的MRl图像,并与产前超声或分娩后结果进行比较。结果：MRI正确诊断所有31例胎儿前腹壁缺损,其中脐膨出19例,腹裂12例。19例脐膨出胎儿中伴发畸形7例(...     

Fetal omphalocele and gastroschisis: a review of 24 cases

Fetal omphalocele and gastroschisis are congenital defects of the abdominal wall that require prompt surgical management at the time of delivery. To evaluate the role of prenatal sonography in identifying factors that influence prognosis, 24 cases of abdominal-wall defect (16 omphalocele, eight gastroschisis) were reviewed. Sonograms were evaluated for location of umbilical cord insertion, contents of the ventral defect, presence or absence of a covering membrane, fetal ascites, bowel-wall thickening, and coexisting anomalies. Sonographic differentiation between omphalocele and gastroschisis was possible in 18 (75%) of 24 cases. Eighteen patients had congenital defects in addition to the abdominal-wall defect. Associated abnormalities were present in 14 (88%) of 16 fetuses with omphalocele and four (50%) of eight with gastroschisis. Overall survival rate was 50%, excluding six terminated pregnancies. Survival rate was 33% for neonates with omphalocele and 83% for those with gastroschisis. The better prognosis for neonates with gastroschisis appears to reflect the lower frequency of associated congenital anomalies.     

先天性冠状动脉瘘的产前超声心动图诊断

目的 评价胎儿超声心动图对先天性冠状动脉瘘的诊断价值。方法 回顾性分析3例经胎儿MRI或产后超声心动图诊断为冠状动脉瘘的产前超声资料。结果 3例冠状动脉瘘胎儿的产前超声心动图诊断均正确。其中单纯性冠状动脉右室瘘2例,经胎儿MRI证实,超声表现为右心增大、右心室内舒张期异常血流;1例冠状动脉右室瘘,合并复杂先天性心脏病,产前超声表现为右心室内舒张期异常血流,产后由经胸超声心动图证实。结论 产前超声心动图可以比较准确地诊断先天性冠状动脉瘘。     

Twin gestations: monitoring of complications and anomalies with US

An evaluation of 227 consecutive twin gestations was undertaken to assess the role of ultrasound (US) in the diagnosis of major obstetric complications and congenital anomalies. US accurately depicted the growth and development of fetuses in 65 patients with underlying maternal disorders that produced additional risks to the pregnancy. Complications such as malpresentations (104 cases), polyhydramnios (15 cases), oligohydramnios (five cases), and uterine myomas (seven of 11 cases) were demonstrated prenatally with US. Fetal anomalies included anencephaly (two cases), hydrocephalus (two cases), conjoined twins (three cases), twin-twin transfusion syndrome (five cases), and acardiac monsters (two cases). Demise of one twin in 20 gestations and demise of both twins in 18 gestations (overall mortality of 17%) were correctly identified with US. These 38 gestations included intrauterine demise in 12, spontaneous abortion in 13, and neonatal deaths in 13. Therefore, when multiple gestations are suspected clinically, serial real-time US scans should be obtained beginning in the first trimester.     

Sonography of facial features of alobar and semilobar holoprosencephaly

Twenty-seven cases of alobar/semilobar holoprosencephaly were reviewed to determine and classify the associated facial abnormalities detected with prenatal sonography. All but one case were diagnosed prospectively with sonography. Facial abnormalities were present in 24 of 27 cases and were detected in 14 (58%) of 24 fetuses on prenatal sonography. Prenatal abnormalities detected by sonography included cyclopia (four of five), ethmocephaly (two of three), cebocephaly (one of three), midline cleft lip (four of eight), lateral cleft lip (two of two), and mild hypotelorism (one of three). One or more extrafacial anomalies were present in 14 (52%) of 27 fetuses. Other major structural anomalies detected prenatally by sonography included meningomyelocele (two of two), renal dysplasia (five of six), omphalocele (three of four), esophageal atresia (zero of three), and cardiac defects (one of seven). Chromosomal analysis revealed abnormal karyotype in 13 (50%) of the 26 fetuses in which it was performed; the most common abnormality was trisomy 13 (seven cases). The perinatal mortality rate was 89% (24 of 27); three neonates with holoprosencephaly were alive when discharged from the hospital. It is concluded that when a major cystic abnormality of the fetal brain is detected, prenatal sonographic analysis of midline facial defect may allow more definitive diagnosis of alobar or semilobar holoprosencephaly; affected fetuses often have other major structural abnormalities, and the outcome is nearly always fatal.     

Fetal hydrocephalus: sonographic detection and clinical significance of associated anomalies

Sixty-one cases of fetal hydrocephalus were reviewed to determine the accuracy and clinical significance of prenatal ultrasound (US) for detecting concurrent anomalies. Of 61 fetuses studied, 51 (84%) had one or more major central nervous system (CNS) malformations (38 fetuses with 39 anomalies) and/or extra-CNS anomalies (34 fetuses). Only ten (16%) fetuses had no concurrent anomaly. Anomalies of the CNS were correctly identified with US in 35 of 39 (90%) cases. Of 34 fetuses (56%) with extra-CNS anomalies, 27 had multiple anomalies. One or more extra-CNS abnormality was identified with US in 22 of the 27 (81%) fetuses with multiple anomalies but no anomalies were identified with US in the seven patients with an isolated anomaly. Fetal mortality was directly related to the presence of extra-CNS anomalies (P less than .01). Many important anomalies coexisting with fetal hydrocephalus can be identified with US. Furthermore, sonographic detection of extra-CNS malformations carries a poor prognosis and was associated with a uniformly fatal outcome in this series.     

Assessment of congenital heart disease (CHD): is there a role for fetal magnetic resonance imaging (MRI)?

Purpose

To review our experience with fetal magnetic resonance imaging (MRI) to evaluate congenital heart disease (CHD).

Methods

We performed fetal MRI in 32 fetuses with an echocardiographically assessed CHD. Both direct and indirect signs of CHD were investigated. Direct signs considered were: morpho-volumetric abnormalities of the heart; malrotations; ventricular and atrial septal defects; anomalies of the origin, size and course of the great arteries. Indirect signs considered were: difficulty to recognize a “normal” anatomical structures in the reference projections; increase of the vascular size before a stenosis; hypertrophy of the papillary muscles; cardiomegaly and pericardial effusion. All MRI findings were compared with postnatal or autoptic findings.

Results

MRI allowed the CHD to be visualised by direct signs in 17 fetuses, indirect signs in 5 and both direct and indirect signs in 9 fetuses, excluding the prenatal echocardiographic suspect of hypoplastic left heart syndrome in 1 fetus.Postnatal echocardiograms or autoptic findings confirmed a normal heart in 1 fetus and CHD in 31 fetuses including a single cardiac anomaly or syndrome in 19 fetuses, 2 associated cardiac abnormalities in 11 and 3 cardiac anomalies in 1 fetus.However, in 2 fetuses MRI detected a ventricular septal defect successively disclosed by gold standard.

Conclusions

MRI is a promising method for further assessment of the cardiovascular pathologies diagnosed by echocardiography, and may be a valuable tool in assessing associated extracardiac anomalies.     

Tumor disease and associated congenital abnormalities on prenatal MRI

Objective

Fetal tumors can have a devastating effect on the fetus, and may occur in association with congenital malformations. In view of the increasing role of fetal magnetic resonance imaging (MRI) as an adjunct to prenatal ultrasonography (US), we sought to demonstrate the visualization of fetal tumors, with regard to congenital abnormalities, on MRI.

Materials and methods

This retrospective study included 18 fetuses with tumors depicted on fetal MRI after suspicious US findings. An MRI standard protocol was used to diagnose tumors judged as benign or malignant. All organ systems were assessed for tumor-related complications and other congenital malformations. Available US results and histopathology were compared with MRI.

Results

There were 13/18 (72.2%) benign and 5/18 (27.8%) malignant tumors diagnosed: a cerebral primitive neuroectodermal tumor in 1/18, head–neck teratomas in 4/18; ventricular rhabdomyomas in 4/18; a cardiac teratoma in 1/18; a hepatoblastoma in 1/18; neuroblastomas in 2/18; a cystic hemorrhagic adrenal hyperplasia in 1/18; a pelvic leiomyoma in 1/18; sacrococcygeal teratomas in 3/18. Tumor-related complications were present in 13/18 (72.2%) cases; other congenital abnormalities in 3/18 (16.7%). MRI diagnosis and histology were concordant in 8/11 (72.7%) cases. In 6/12 (50%) cases, US and MRI diagnoses were concordant, and, in 6/12 (50%) cases, additional MRI findings changed the US diagnosis.

Conclusion

Our MRI results demonstrate the visualization of fetal tumors, with frequently encountered tumor-related complications, and other exceptional congenital abnormalities, which may provide important information for perinatal management. Compared to prenatal US, MRI may add important findings in certain cases.     

胎儿超声心动图筛选检查胎儿先天性心脏病的临床应用

目的 :探讨胎儿超声心动图产前筛选检查胎儿先天性心脏病 (CHD)的有效性。材料和方法 :采用四条基本法则和六组基本断面的胎儿超声心动图筛选新概念 ,对 2 3 12例孕妇进行胎儿CHD产前筛选。结果 :发现胎儿CHD2 3例 ,经尸检和产后超声心动图随访 ,其准确性 88.5 % ,敏感性 95 .8% ,特异性 99.9% ,阳性预期值 92 .0 % ,阴性预期值 99.96%。结论 :胎儿超声心动图是产前筛选胎儿CHD的有效方法。     

Fetal MRI as complement to US in the diagnosis and characterization of anomalies of the genito-urinary tract

The purpose of this study is to compare the accuracy of prenatal ultrasound (US) and prenatal magnetic resonance imaging (MRI) in the diagnosis and characterization of congenital abnormalities of the genito-urinary tract and to determine if the additional information obtained by MRI may influence the management of the fetus.We retrospectively evaluate 15 cases of congenital genito-urinary tract anomalies detected by prenatal US and with echographic inconclusive diagnosis. We compare the MRI findings with the US findings and the final diagnosis, obtained from neonatal outcomes, imaging studies and pathology records. Fetal US diagnosis was correct in 9 cases (60%) and MRI in 13 cases (86.7%). Prenatal MRI revealed additional information to US in 9 cases (60%), which modified the initial US diagnosis in 5 cases (33.3%) and changed the therapeutic approach in 5 fetuses (33.3%). Fetal MRI was better than US in cases of oligoamnios and in fetuses with genito-urinary pathology concerning the pelvic and perineum region. We believe that MRI should be considered as a complementary diagnostic method in cases of echographic suspicion of congenital pathology of the genito-urinary tract and inconclusive prenatal US.     

Magnetic resonance imaging of the interatrial septum and atrial septal defects

Magnetic resonance images were obtained in six patients with known or suspected interatrial septal defects (ASD) and 33 subjects without congenital heart disease. Image planes were oriented to the long and short axes of the left ventricle and septum and provided reproducible display of pertinent anatomic landmarks. Of the images in 33 control subjects, three (9%) were falsely positive showing apparent ASD. ASDs were correctly identified and localized in all six patients (five secundum, one primum). Long-axis views provided excellent display of the location and diameter of defects. All were confirmed at cardiac catheterization and four at surgery with good agreement in measurement of defect size and location. All showed signs of right-sided volume overload. Five had previous echocardiography, which showed definite or suspected ASD in four.     

胎儿先天性肢体畸形的MRI诊断探讨

目的 探讨MRI在胎儿先灭性肢体畸形诊断中的应用价值.方法 回顾性分析胎儿先天性肢体畸形的MRI表现.16例孕妇年龄22～40岁,平均29岁;孕龄22～39周,平均29周.产前常规行超卢(US)检查后24～48 h内行MR检查,采用二维快速稳态自由进动序列(2D FIESTA),行胎儿颅脑脊柱胸腹部常规及肢体重点扫描,将产前MRI、US表现与出牛后影像表现或外观(4例胎儿)、引产后尸体解剖或外观检查结果 (12例孕妇共13例胎儿,其中1例孕妇为双胎)对照.结果 16例孕妇共检出胎儿17例.包括先天性双上肢完全截肢1例,人体鱼序列征1例,短肢畸彤6例,双手腕内翻畸形2例,右手多指畸形1例,单纯有手缺指畸形1例,右手截指畸形1例,单纯马蹄内翻足2例,脊柱裂脑积水伴马蹄内翻足2例(其中1例还伴双手叠指样屈曲).16例孕妇随访结果 与产前MRI诊断完全一致14例,不完全一致2例.结论 MRI在胎儿先天性肢体畸形诊断方面具有一定的应用价值,能提供超声以外的额外信息,甚至更正超声的诊断.     

快速MRI对胎儿中枢神经系统先天畸形的诊断价值与超声对照研究

目的 探讨快速MRI对胎儿中枢神经系统先天畸形的诊断价值并与超声（US）对照。方法 对48例孕妇产前行US和MRI检查，胎儿尸检及出生后随访检查证实中枢神经系统畸形22例，共26处。于US检查后3d内行胎儿颅脑脊柱及胸腹部MR扫描，并与US诊断结果和尸检及随访结果进行比较。结果 引产后尸检发现17处畸形，出生后随访检查证实9处畸形，共26处（无脑畸形6处、脊柱裂2处、脑膜脑膨出3处、先天性脑积水7处、前脑无裂畸形1处、脑穿通畸形3处、蛛网膜囊肿2处、脉络丛囊肿2处），US诊断24处，准确率92．3％（24／26），误、漏诊各1处，假阳性率3．8％（1／26），漏诊率为3．8％（1／26），MRI诊断23处，准确率88．5％，误诊1处，假阳性率3．8％（1／26），漏诊2处，漏诊率为7．7％（2／26）。比较2种方法差异无统计学意义（X^2=0．22，P〉0．05）。但快速MRI视野大，运动伪影少，组织分辨率高，能清楚显示脑灰白质、脑室系统、脑沟裂、蛛网膜下腔、脊柱等中枢神经系统解剖结构。结论 MRI对胎儿中枢神经系统先天畸形具有较高的诊断价值，可作为胎儿中枢神经系统先天畸形的一种重要的影像学诊断手段。     

The estimated number of patients with adult congenital heart defects in Norway

An increasing survival rate for adult patients with congenital heart defects has been related to increased hospitalization and a greater risk of incidences during physical activity. The limited follow-up of these adult patients is partly due to a lack of knowledge about the number of adult patients in need of specialized care. Based on a classification into simple, moderate and severe forms of congenital heart defect, the population size was estimated for three age categories. Based on a conservative prevalence at birth of 7.0 per 1000 live births, approximately 14 000 adult patients with congenital heart defects between 16 and 64 years are alive in Norway today and in need of specialized cardiology attention. This is almost twice the number of children with a congenital heart defect. The assessment of the number of patients is important in order to reveal the risks of fatal incidence during physical activity in the adult congenital heart disease group. There is a need for knowledge and education about the potential risks during sports in coaches, teachers, health personnel, employers, parents, caretakers and in the patients themselves.     

手术治疗二尖瓣附瓣致左室流出道狭窄2例报告

目的探讨二尖瓣附瓣造成左室流出道狭窄的临床特点及手术治疗.方法收治两例二尖瓣附瓣合并左室流出道狭窄畸形.例1术前诊断先天性心脏病,二尖瓣叶裂,左心室流出道重度狭窄;例2术前诊断先天性心脏病,房间隔缺损,二尖瓣附瓣,二尖瓣轻中度关闭不全,左室流出道轻度狭窄.两例手术均在中低温体外循环下进行,例1经主动脉瓣探查发现二尖瓣附瓣附着在二尖瓣前叶基底部的心室面,为固定型,造成左室流出道狭窄;例2二尖瓣附瓣通过一个蒂与二尖瓣前叶基部相连,为活动型.结果均经房间隔将二尖瓣附瓣切除,合并心脏畸形一并矫治,术后恢复顺利,主动脉瓣下狭窄基本或完全解除.结论二尖瓣附瓣致左室流出道狭窄畸形较为罕见,狭窄明显者必须进行手术治疗;对于无或轻度左室流出道狭窄及未合并其它心脏畸形的二尖瓣附瓣,无需进行预防性手术,但必须定期随访.     

Coronary angiography and thallium-201 single photon emission computed tomography in single vessel coronary artery disease

Polar presentations of selective coronary angiography and myocardial 201T1 SPECT were compared in 49 patients with single vessel disease. Twenty-six lesions were located in LAD, 8 in LCX and 15 in RCA. Perfusion defects were found within the supply area of 44 stenotic and 20 non-stenotic arteries. 201T1 SPECT detected coronary disease in 45 patients (92%) and the obstructed artery in 44 (90%). Single vessel disease was correctly indicated in 28 patients (57%) where the perfusion defects did not extend significantly outside the area supplied by the stenotic artery. Extensive perfusion defects could be explained by 'collateral steal', myocardial disease, LV aneurysm or spasm in 9 patients (18%). The absence of perfusion defect related to the stenotic artery could be explained by a moderate degree of stenosis or well developed collateral vessels in 5 patients (10%). Proximal LAD lesions resulted in larger perfusion defects than distal.