多切面法联合彩色多普勒超声在胎儿先天性心脏病诊断中的应用

目的:探讨多切面法联合彩色多普勒超声在胎儿先天性心脏病(congenital heart diseases,CHD)诊断中的应用价值。方法:采用多切面法联合彩色多普勒超声对2015年5月~2016年7月300例胎儿进行CHD筛查,并与随访的产后超声或尸解结果作对照。结果:300例胎儿经产前超声联合多切面法检出CHD胎儿20例,检出率为6.7%,经产后超声或尸解确诊14例:三尖瓣下移畸形1例,室间隔完整型完全性大动脉转位1例,完全性房室间隔缺损1例,室间隔完整型肺动脉瓣闭锁1例,双流入型单心室1例,共同动脉干Ⅰ型2例,单纯室间隔缺损2例,法洛氏四联症2例,主动脉弓缩窄1例,肺动脉瓣轻度狭窄1例,二尖瓣闭锁并共同动脉干1例;误诊为单纯室间隔缺损1例,误诊为法洛氏四联症1例,病例流失4例。产前超声联合多切面法对有、无高危因素的检出率分别为3.79%、13.48%,比较有统计学意义(P0.05)。产前超声联合多切面法诊断CHD的灵敏度为100%、特异度为99.66%、阳性预测值为80.00%、阴性预测值为100%。结论:多切面法联合彩色多普勒超声在胎儿CHD诊断中具有较高的应用价值。     

矫正型大动脉转位合并心内畸形的外科治疗

目的：为探讨矫正型大动脉转位的病理解剖特点及手术技术。方法：本组6例均为SLL型,手术包括：室间隔缺损修补4例、肺动脉瓣切开1例、静脉室肺动脉外通道1例、房室瓣替换1例。结果：全组手术死亡1例。主要手术并发症为低心排4例、完全性房室传导阻滞1例及残余左房室瓣关闭不全1例。结论：矫正型大动脉转位的病理解剖有一定的特殊性,应按不同的合并畸型选择不同术式,正确处理室间隔缺损、肺动脉流出道狭窄及左房室瓣关闭不全是外科手术的关键。     

超声心动图联合心电图对妊娠中期心脏畸形胎儿的诊断价值

摘要 目的：探讨超声心动图联合心电图对妊娠中期心脏畸形胎儿的诊断价值。方法：回顾性分析我院2019年1月到2021年1月出生后确诊与尸检确诊为心脏畸形的80例胎儿的临床相关指标,分析80例胎儿超声心动图检查与胎儿心电图检查结果,并分析超声心动图联合心电图对妊娠中期心脏畸形胎儿的诊断价值。结果：80例胎儿有56例出现不同程度的心电图异常现象,其中胎心早搏3例、FQRS振幅增高12例、ST段改变15例、FQRS时限增宽3例、胎心不齐4例、胎心过缓3例、胎心过速16例;80例胎儿通过尸检和出生后随访最终确定左心发育不良综合征（HLHS）4例,单心室6例,完全性心内膜垫缺损（ECD）8例,法洛四联症（TOF）14例,卵圆孔直径大于 6 mm 17例,室间隔缺损（VSD）31例,与超声心动图诊断结果对比无显著差异（P＞0.05）,超声心动图有7例漏诊;联合诊断与超声心动图和心电图对左心发育不良综合征、单心室、完全性心内膜垫缺损胎儿的诊断对比无明显差异（P＞0.05）,对法洛四联症、卵圆孔直径大于 6 mm、室间隔缺损和心脏畸形诊断总数方面联合诊断优于超声心动图和心电图单一诊断（P＜0.05）;通过不同检查的检测价值对比发现,超声心动图联合心电图检查的准确度、敏感度、特异度、阳性预测值和阴性预测值明显高于超声心动图与心电图单一检查。结论：超声心动图和心电图对于妊娠中期心脏畸形胎儿的诊断均具有重要价值。心脏畸形胎儿在妊娠中期进行心电图检查会出现异常现象,但是并不能确诊为心脏畸形,还需后续继续应用超声心动图进行检查,最终确诊胎儿是否存在心脏畸形现象。     

胎儿迷走右锁骨下动脉175例临床分析

目的探讨提高迷走右侧锁骨下动脉(ARSA)的检出率,超声评估妊娠中期ARSA的可行性,ARSA在筛查21-三体及其与其他异常相关性中的表现。方法回顾性分析2013年1月～2017年12月在我院行产前超声筛查检出的ARSA 175例的临床资料,总结其检出方法并随访观察妊娠结局,观察产前超声诊断的ARSA胎儿有无合并其他畸形,并对出生后胎儿进行随访,记录其产后28天内各种生理指标、外观及Apgar评分。结果 175例ARSA均由彩色多普勒超声在三血管气管切面(Three vessels and tmchea view,3VT)检出,其中孤立ARSA 94例,合并其他畸形81例;除8例合并严重畸形胎儿引产外,65例出生儿均身体情况良好。结论 3VT是显示胎儿ARSA敏感且有效的切面,可显著提高其检出率;孤立的ARSA胎儿预后较好,若合并其他心内外畸形,则预后较差。     

孕早期超声心动图对超声软指标阳性胎儿复杂先天性心脏病的诊断价值

目的:明确各孕周胎儿超声心动图四腔观、腹部横断面观等切面显示率,探讨孕早期超声心动图对超声软指标阳性胎儿复杂先天性心脏病(CHD)的诊断价值。方法:用GE Voluson E8彩色超声诊断仪(探头频率4~8 MHz)对120例超声软指标阳性胎儿进行孕早期(11~13+6周)超声心动图检查,探查胎儿方位、腹部大血管位置、心脏位置、心尖指向及超声心动图各切面,判断胎儿心脏结构是否正常,将检查结果与引产病理尸检、孕中期(孕18~24周)复查或分娩后新生儿期超声心动图检查结果作对照,并以ROC曲线分析孕早期超声心动图的灵敏度和特异度。结果:孕早期胎儿超声心动图对胎儿心脏四腔观、腹部横断面观、动脉导管弓观、左心室流出道观、主动脉弓观、三血管气管观、上下腔静脉长轴观的显示率均随孕周的增加而提高,分别为72.7%、89.2%、80.0%、65.8%、70.0%、72.5%、74.2%。胎儿孕早期超声心动图对复杂性CHD的灵敏度为86.4%(19/22),特异度为96.7%(87/90),准确度为72.7%(16/22),ROC曲线下面积(AUC)为0.81。结论:孕早期胎儿超声心动图对各切面的显示率随孕周的增加而提高,且超声图像特征基本同于孕中期超声检查。孕早期超声心动图筛查复杂性CHD胎儿特异性好,灵敏度及准确度均较高,对于部分复杂性CHD胎儿可作出提示性诊断,对减少先天性畸形胎儿出生率有重要意义。     

胎儿重复肾畸形的超声诊断及误诊原因分析

目的:探讨胎儿重复肾畸形的超声诊断的图像特征及误诊原因。方法:回顾分析我院30例经产前超声诊断为重复肾胎儿的超声图像及其临床资料。结果:30例重复肾胎儿中,出生后经手术或临床证实或终止妊娠后经解剖证实的共有27例,出生后经复查双肾正常的胎儿共有3例。27例重复肾胎儿中,单侧、双侧重复肾分别占22、5例,共32侧重复肾,其中合并输尿管扩张、合并输尿管囊肿的分别占14、4侧;合并其他系统气管畸形的胎儿共6侧,其中染色体三体综合征的有4例;出现4例误诊;胎儿重复肾声像图特征:1呈囊肿样改变肾上极占4侧,类圆形无回声区,壁较薄、光滑,与输尿管相通;2肾窦区可见两个不相通的肾盂,分离肾盂占11侧,未与输尿管相通;3肾窦区可见两个不相通肾盂,分离肾盂占14侧,上肾盂或下肾盂相连于输尿管;4 3侧肾窦区见两个不分离的肾盂,肾脏形态拉长,未与输尿管相通。结论:胎儿重复肾的超声声像图特征主要为两个不相通的肾盂;加强在胎儿中晚孕期时做常规多切面扫查,有利于提高对重复肾胎儿的确诊精确率,为临床评估胎儿提供借鉴。     

产前超声诊断胎儿肢体畸形的效果观察

目的探讨产前超声诊断胎儿肢体畸形的效果。方法选择2015年4月~2016年4月在我院行产前检查的孕妇1180例,均采用彩色多普勒超声诊断仪进行产前超声检查,并观察产前超声诊断胎儿肢体畸形的临床应用效果。结果本组1180例孕妇中,检出肢体畸形胎儿38例,检测率为3.22%,其中脚缺失胎儿5例(13.16%),手畸形胎儿8例(21.05%),足内翻畸形胎儿6例(15.79%),股骨歪曲胎儿6例(15.79%),上肢畸形胎儿3例(7.89%),桡骨缺损胎儿8例(21.05%),六指畸形胎儿2例(5.26%)。超声诊断胎儿肢体畸形者均行引产手术,引产结果与超声诊断结果相符。结论产前超声检查在胎儿肢体畸形诊断中具有较高检测价值,能够有效检查出胎儿肢体发育情况,对提高人口质量具有重要意义。     

超声诊断持续性右脐静脉合并畸形的价值及其对于胎儿预后意义研究

目的:探讨超声诊断持续性右脐静脉(PRUV)合并畸形的价值及其对于胎儿预后意义研究。方法:收集我院2014年1月至2020年1月定期产检的孕妇6258例。对所有胎儿行超声心动图产前评估,对发现存在PRUV的胎儿进一步确诊。对所有PRUV病例进行胎儿超声心动图详细的解剖扫描,以确定是否合并有其他畸形。在我院分娩的孕妇病例系统均详细记录有孕妇和胎儿的住院情况。对未在我院分娩的PRUV胎儿进行电话随访,以了解胎儿出生时的情况。对26例PRUV胎儿均进行了至少为期12个月的电话随访,以了解胎儿的预后情况。结果:PRUV超声表现为脐静脉向胆囊外侧和右侧走行,可能与向胃方向走行的右门静脉融合(肝内型),也可能流入右心房、下腔静脉心下部分或髂静脉(肝外型)。在肝内型变异中,脐静脉与右门静脉在静脉窦处融合,胎盘血液继续流入静脉导管,最终流入下腔静脉。在6258例定期产检孕妇中共发现26例患有PRUV的胎儿,PRUV发生率为0.42%(26/6258),其中肝内型为0.39%(24/6258),肝外型为0.03%(2/6258)。单纯型PRUV胎儿(除PRUV外不合并其他畸形)16例,占61.54%(16/26),其中1例因胎儿体重过大行剖腹产,产后胎儿健康;其余胎儿均自然分娩,产后胎儿健康。非单纯型PRUV胎儿(除PRUV外合并其他畸形)10例,占38.46%(10/26),其中8例为肝内型PRUV,2例为肝外型PRUV。8例非单纯型肝内型PRUV中,法洛四联症伴单脐动脉胎儿生后手术治疗,预后较差,1岁时因感染性心内膜炎死亡;房间隔缺损生后随访自行关闭,胎儿健康;其余胎儿生后手术治疗,预后良好。2例非单纯型肝外型PRUV分别合并肢端畸形和大动脉转位,1例宫内死亡,1例剖腹产后1周因心力衰竭死亡。结论:详细的产前超声检查可用于确诊PRUV及其可能合并畸形。单纯型PRUV胎儿预后良好,非单纯型PRUV胎儿预后则取决于伴随畸形的类型和严重程度,且非单纯型肝外型PRUV预后不佳、死亡率较高。     

超声检测胎儿先天性心脏病存在问题分析

目的探讨并分析产前超声筛查胎儿先天性心脏病临床应用中存在的问题。方法回顾性分析本院近三年来599例胎儿先天性心脏病超声检查情况。结果确诊49例先天性心脏病,43例于产前确诊,产前心超敏感性为87．7％。漏诊5例,漏诊率10．2％。误诊1例,误诊率2．04％。49例先心病者中,产前确诊后失访的32例,失访率高达65％。检查孕周为17周-39．5周,平均28．4周。结论虽然超声筛查胎儿先天性心脏病具有无创性、敏感性高等优点,但仍存在漏诊、误诊、诊断时间过晚等问题,值得引起注意。     

四维彩超技术在筛查胎儿先天性心脏病的应用价值分析

目的:探讨四维彩超技术在筛查胎儿先天性心脏病的应用价值。方法:择取我院2012年3月至2014年3月收治的行产前筛查的300例产妇为研究对象,采用四维彩色多普勒超声择取心脏三血管、四腔观、肺动脉分叉、上下腔静脉回流、动脉导管弓、主动脉弓等常规切面,予以胎心各腔血流及胎心率等多项检测,对胎儿是否存在先心病进行综合诊断,并综合胎儿大体解剖状况,与病理诊断及二维超声检查结果进行对比。结果:四维彩超检出率为6.67%,正确率为90.00%;二维超声检出率为6.00%,正确率为83.33%,两组比较差异具有统计学意义(P0.05)。结论:四维彩超技术在筛查胎儿先天性心脏病中具有至关重要的应用价值,有助于指导胎儿先天性心脏病早期治疗,保证患儿预后,值得临床借鉴。     

Sudden unexpected death in children with congenital heart disease.

Of 18,000 children with organic heart disease evaluated at The Hospital for Sick Children, Toronto between 1940 and 1971, 33 died suddenly and unexpectedly between 1 and 21 years of age. Nine had discrete obstruction of the left ventricular outflow tract and five had muscular narrowing of the left ventricular outflow tract and five had muscular narrowing of the left ventricular outflow tract. Pulmonary vascular disease caused seven sudden deaths, and arrhythmias (usually due to atrioventricular block) caused seven more. Of the five other children who died suddenly three had transposition of the great arteries, one had a complex cyanotic heart defect and one had an anomalous course of the left coronary artery, which originated from the right sinus of Valsalva. With earlier investigation of aortic stenosis, earlier closure of ventricular septal defect to avoid pulmonary vascular disease, better design of artificial pacemakers and better investigation of patients with angina, many of these deaths will be avoided in the future.     

Anatomical correction of complete transposition of the great arteries and ventricular septal defect in infancy.

Two patients, aged 8 weeks and 5 years, with D transposition of great arteries and large ventricular septal defect were treated by transection of both aorta and pulmonary arteries and reattaching them to the appropriate ventricles. This included the origins of the coronary arteries. The ventricular septal defect was closed through a transverse ventriculotomy using a Dacron patch. The younger child was operated on as an emergency because of cyanosis and severe heart failure resistant to intensive medical treatment. The older child had had previous banding of the pulmonary artery at the age of 1 year. In both patients pulmonary artery pressure dropped to below half systemic pressure immediately after the operation. Postoperative progress was satisfactory with relief of cyanosis and heart failure. Early anatomical correction of transposition of the great arteries and ventricular septal defect is feasible and should play an important part in the management of these patients.     

Extended fetal echocardiographic examination for detecting cardiac malformations in low risk pregnancies.

OBJECTIVE--To improve the rate of prenatal detection of cardiac malformations in a low risk population. DESIGN--Comparison of extended fetal echocardiography with the standard four chamber view in detecting abnormalities. Extended echocardiography comprised the four chamber view and visualisation of the left ventricular outflow tract, the right ventricular outflow tract, and the main pulmonary artery and its branches. In cases with abnormal results complete echocardiographic studies were performed by a paediatric cardiologist using M mode, Doppler, and colour flow mapping techniques. SETTING--Obstetric ultrasonographic unit at Shaare-Zedek Medical Centre, Jerusalem. SUBJECTS--5400 fetuses in low risk pregnancies between 18 and 24 weeks'' gestation (mean 21 weeks); 53 were lost to follow up. MAIN OUTCOME MEASURES--Detection of abnormality before and after birth. RESULTS--During the study 23 infants (0.4%) were born with cardiac abnormalities, 21 of whom had major structural and functional heart disease. 18 fetuses had heart disease diagnosed prenatally, 11 by the four chamber view alone (sensitivity 48%) and a further seven by extended echocardiography (sensitivity 78%). Five fetal cardiac defects were missed prenatally (false negative rate 22%). These included coarctation of aorta, persistent truncus arteriosus, tetralogy of Fallot, ventricular septal defect, and pulmonic stenosis. Only one false positive diagnosis (coarctation of aorta) was made (specificity 99.9%, false positive rate 0.1%). The abnormality was correctly identified in 17 out of 18 cases. CONCLUSIONS--The extended fetal heart examination detected 86% (18/21) of major abnormalities in a low risk population. The examination should be incorporated into routine prenatal ultrasonographic investigations.     

超声联合染色体检测对胎儿心血管畸形的诊断价值

摘要 目的：探讨超声联合染色体检测对胎儿心血管畸形的诊断价值。方法：2017年6月到2020年12月选择在本院诊治的高危孕妇117例作为研究对象,所有孕妇都给予胎儿心脏超声检查与羊膜穿刺染色体检查,判断胎儿心血管畸形情况。结果：在117例孕妇中,胎儿心脏超声检出胎儿心血管畸形37例,占比31.6%,前三位主要为室间隔缺损、左上腔静脉、右锁骨下动脉。羊膜腔穿刺术检出32例染色体异常胎儿,占比27.4%,其中染色体数目异常30例,染色体结构异常2例,前三位分别为21-三体、13-三体与18-三体。超声检查胎儿心血管畸形37例中,染色体异常30例;超声检查胎儿心血管正常80例中,染色体异常2例,对比差异有统计学 意义(P<0.05)。联合诊断为胎儿心血管畸形39例,随访后确诊为胎儿心血管畸形40例,超声联合染色体检测对胎儿心血管畸形的敏感性与特异性为100.0%(39/39)和98.7%(77/78)。结论：胎儿心脏超声联合染色体检测对胎儿心血管畸形的诊断具有很高敏感性与特异性,可尽最大可能提高出生缺陷儿的检出率,有很好的应用价值。     

SURGICAL CORRECTION OF COMBINED DOUBLE-OUTLET RIGHT VENTRICLE AND TAUSSIG-BING SYNDROME

Total surgical correction of a Taussig-Bing type double outlet right ventricle (DORV) was successfully performed in a severely cyanotic 3-year-old girl. The malformation was associated with bilateral conus, d-transposition of the great arteries, d-loop, and a subpulmonary ventricular septal defect (VSD) without significant pulmonary stenosis in situs solitus. It was impossible to create a tunnel repair by resecting the markedly hypertrophied muscular conus that separated the aortic valve from the subpulmonary ventricular septal defect. Therefore, the VSD was repaired with a Dacron patch, transforming the double outlet right ventricle into a transposition, after which total correction was achieved by means of a Mustard procedure.     

Chromosome 22q11 deletions in patients with selected outflow tract malformations

The incidence of 22q11 deletions and its effect on the phenotype were established in 170 patients with selected outflow tract malformations and transposition of the great arteries (conotruncal defects). Cases were seen both prospectively and retrospectively. All patients had a dysmorphological evaluation by the clinical geneticist and a cytogenetic analysis including FISH analysis for 22q11 deletions. A chromosomal abnormality was present in 29 patients, including a 22q11 deletion in 22/170 patients (13%). The 22q11 deletion was found in 11% of tetralogy of Fallot, in 11% of pulmonary atresia and VSD, in 44% of pulmonary atresia. VSD and collateral arteries, in 20% of truncus arteriosus, in 60% of interrupted aortic arch and in 25% patients with aberrant subclavian artery. They were absent in double outlet right ventricle or in transposition of the great arteries. No parental deletion was found. All patients had clinical characteristics of the velocardiofacial syndrome. This study confirms a high incidence of chromosome 22q11 deletions in patients with selected outflow tract malformations, with great clinical impact for further management and genetic counseling.     

改良Nikaidoh 手术治疗合并肺动脉瓣狭窄的右室双出口

目的:总结改良Nikaidoh手术治疗右心室双出口(DORV)患者的临床经验,以提高手术疗效。方法:2例先天性心脏病右心室双出口伴肺动脉瓣狭窄行改良Nikaidoh手术,游离主动脉根部及冠状动脉,重建左心室流出道,以带单瓣牛心包片补片重建肺动脉及右心室流出道。结果:术后患者紫绀消失,复查心脏彩超仅有轻度肺动脉瓣关闭不全,未发现左、右心室流出道梗阻,康复出院。结论:采用改良Nikaidoh手术治疗伴肺动脉瓣狭窄的右室双出口,术后可获得良好的血流动力学效果,早期临床结果满意。     

Blood Supply to the Interventricular Septum of the Heart in Rodents with Intramyocardial Coronary Arteries

The blood supply to the interventricular septum of the heart was studied in a sample of 1634 specimens belonging to four rodent families, Cricetidae, Arvicolidae, Gliridae, and Muridae. Most specimens (n = 1604) were examined using a corrosion-cast technique, while the remaining 30 were studied by histological techniques. In 1417 cases the coronary artery pattern was normal, and the interventricular septum was fundamentally supplied by one or rarely two septal arteries arising from the right and/or left coronary arteries. In 72 specimens the right and left coronary arteries were normal, while the septal artery arose from a separate ostium in the aorta, behaving as a third coronary artery. The remaining 145 animals possessed anomalies in the origin of the coronary arteries, and the septum was also principally irrigated by a septal artery. In 5 of these 145 anomalous cases the septal artery originated from a separate ostium in the aorta. In all specimens examined a less important vascularization of the septum was established through thinner penetrating vessels originating from the right and/or left coronary arteries. Existence of one or rarely two septal arteries is the most constant feature of the coronary artery arrangement in rodents with intramyocardial coronary arteries.