38例胎儿心脏肿瘤的超声、病理及遗传学特点分析

目的分析胎儿心脏肿瘤的超声特点及病理类型,探讨胎儿心脏肿瘤的临床及病理发生特点及其与结节性硬化(TSC)的关系。方法对38例因胎儿心脏肿瘤就诊的孕妇进行胎儿超声心动图检查,并对引产后的胎儿肿瘤标本进行病理分析,同时采集家系临床资料,进行家系TSC遗传学检测。结果 38例胎儿均成功接受了胎儿超声心动图检查、胎儿心脏肿瘤病理分析及家系TSC目标基因检测。38例中,超声检查提示胎儿多发心脏肿瘤30例,单发8例。病理解剖结果:胎儿多发心脏肿瘤30例,其中横纹肌瘤29例,血管瘤1例;单发心脏肿瘤8例,其中横纹肌瘤7例,纤维瘤1例。这也与超声心动图的诊断结果一致。胎儿基因检测结果:除2例非横纹肌瘤外基因检测阴性外,36例胎儿心脏横纹肌瘤中,TSC基因检测阳性32例(多发27例,单发5例),阴性4例(多发2例,单发2例)。家系基因检测结果:在上述32例基因检测阳性病例中,新发突变20例(TSC1突变5例,TSC2突变15例),家系遗传突变12例(均为TSC2突变)。结论心脏横纹肌瘤是胎儿最常见的心脏肿瘤,无论单发还是多发,病理证实的横纹肌瘤与TSC的相关性均较高。胎儿心脏肿瘤对心脏本身的影响较小,其与TSC的关系是判断预后的关键因素。     

胎儿心脏横纹肌瘤的超声诊断及直系亲属临床特征分析

目的:探讨胎儿超声心动图结合直系亲属患病特征,在产前诊断心脏横纹肌瘤并评估其预后的临床价值。方法:回顾性分析2007年至2014年,我科诊断为心脏横纹肌瘤的9例胎儿超声心动图特征,应用二维及多普勒超声探查心脏肿瘤发生部位、数目、大小、形态及相应血流动力学变化,同时记录家族相关病史及临床特征。结果:检出胎儿心脏肿瘤(考虑胎儿心脏横纹肌瘤)9例,1例自孕31周首检发现后随访至出生后37个月;8例选择终止妊娠,其中1例经病理证实为心脏及心包膜多发性横纹肌瘤,其父系有结节性硬化症症状和体征;4例直系亲属有结节性硬化症相关症状和体征;无结节性硬化症家族史者3例。超声心动图均显示为心腔内的中高回声团块,2例因流出道梗阻引起血流速度加快,1例伴有过缓。结论:心脏横纹肌瘤常是最早发现结节性硬化症的重要征象。重视直系亲属相关症状、体征是产前诊断心脏横纹肌瘤的有力依据。     

4例原发性心脏横纹肌瘤临床病理分析

目的:探讨原发性心脏横纹肌瘤的临床病理特点、诊断和鉴别诊断、治疗及预后特点。方法:对3例胎儿尸检病例及1例婴儿手术切除病例行肉眼及石蜡切片观察,并做免疫组化及特殊染色。结果:4例患儿均为心脏横纹肌瘤,其中1例胎儿尸检伴发大脑皮质内多发结节,诊断为结节性硬化症,肿瘤细胞Myoglobin(+)、Desmin(+)、Vimentin(+);脑部结节S-100(+)、GFAP(+)、Nestin(+)。结论:心脏横纹肌瘤好发于胎儿及5岁的婴幼儿,其合并结节性硬化症者比例较低,免疫组织化学标记和特殊染色有助于肿瘤的诊断和鉴别诊断。     

时间-空间相关成像技术诊断胎儿心脏畸形的应用研究

目的:探讨应用STIC技术诊断胎儿心脏畸形的应用价值。方法:对1 286例胎儿进行超声心动图顺序检查,检查过程中应用STIC技术采集心脏容积数据,数据存盘后进行图像后处理并脱机分析,对心脏畸形的胎儿超声心动图结果,与出生后复查超声心动图及引产后病理结果进行对照分析。结果:STIC技术结合胎儿超声心动图检出胎儿心脏异常189例,其中心脏复杂畸形36例,合计91处心脏畸形,STIC技术产前诊断胎儿心脏畸形的灵敏度(97.4%),特异度(99.6%),误诊率(0.4%),漏诊率(2.6%),总的符合率(99.2%)。结论 :STIC技术结合胎儿超声心动图诊断胎儿心脏畸形具有较高的灵敏度、特异度,对胎儿心脏畸形可以明确诊断。     

胎儿心脏横纹肌瘤尸检病例分析

目的探讨胎儿心脏横纹肌瘤的病理形态特点、诊断及鉴别诊断等。方法报告中国医科大学附属盛京医院的4例胎儿心脏横纹肌瘤尸检病例。标本采用HE染色,并行免疫组化及糖原染色。结果胎儿心脏横纹肌瘤为单发或多发肿物,界清;镜下可见典型的“蜘蛛细胞”;免疫组化染色示瘤细胞肌源性标记阳性,细胞增殖活性（Ki-67）阴性。结论心脏横纹肌瘤是胎儿最常见的心脏肿瘤,可单发或多发。     

少见部位心脏黏液瘤的多层计算机断层摄影术和超声心动图诊断评价

目的:通过分析心脏多发或少见部位黏液瘤患者的影像学资料,探讨多层计算机断层摄影术(MSCT)和超声心动图对其联合检查的必要性。方法:收集我院2003-02至2015-12经手术证实的14例多发和非起源于左心房卵圆窝的心脏黏液瘤,分析其MSCT征象,并与超声心动图结果对照。结果:14例患者中超声心动图明确诊断12例,准确率约85.7%;MSCT诊断11例,准确率约84.6%。术前超声心动图和MSCT对此类多发或非常规位置起源心脏黏液瘤的诊断准确率基本相当且优势互补,超声心动图对于瘤体的运动、瘤蒂的位置、形态和附着点判断优于MSCT。而MSCT可同时排除有无肺动脉栓塞以及冠状动脉病变。结论:多发或起源少见部位的心脏黏液瘤既有着与常规单发左心房黏液瘤相似的影像学表现,又有其特殊征象,两种检查方法密切结合,可对此类疾病及其并发症诊断达到较高的水平,为手术创造良好条件。     

婴幼儿原发性心脏肿瘤超声心动图诊断分析

目的探讨超声心动图在婴幼儿原发性心脏肿瘤诊断中的应用价值。 方法选取26例疑似原发性心脏肿瘤婴幼儿,均行超声心动图检查,完善相关检查后,经手术或穿刺活检明确诊断,分析超声心动图对原发性心脏肿瘤的诊断价值。 结果26例疑似心脏肿瘤患儿中,1例确诊为原发性心脏肿瘤,属心脏黏液瘤(良性);25例确诊为心内膜炎,其中19例伴瓣膜赘生物。超声心动图诊断2例原发性心脏肿瘤,其中1例为心内膜炎赘生物误诊为心脏肿瘤,诊断敏感度为100.0%,特异度为96.0%,与病理诊断符合率为96.15%。 结论超声心动图诊断婴幼儿原发性心脏肿瘤具有较高敏感度,可为临床正确诊断提供客观依据,有利于治疗方案的制定与实施。     

胎儿冠状静脉窦扩张的超声心动图诊断及误诊原因分析

目的:探讨胎儿冠状静脉窦扩张的超声心动图诊断临床意义及误诊原因分析。方法:2010年3月至2013年5月间,7 639例孕妇于我院接受产前胎儿超声心动图检查。结合出生后随访结果,回顾性分析冠状静脉窦扩张胎儿的超声心动图表现。结果:7 639例中共检出胎儿冠状静脉窦扩张60例(0.8%),其中单纯左位上腔静脉(PLSVC)28例(47%,28/60);合并心内其他畸形32例(53%,32/60)。初诊时误诊为原发孔房间隔缺损3例。结论:产前胎儿超声心动图可以诊断冠状静脉窦扩张及其合并心内畸形,对妊娠期胎儿的管理具有重要诊断价值和意义。     

超声造影在诊断心脏占位性病变中的应用价值

目的:探讨超声造影(contrast-enhanced ultrasound, CEUS)在心脏占位性病变中的诊断价值。方法:选取26例经常规经胸超声心动图(transthoracic echocardiography, TTE)发现心脏占位性病变的患者,均行TTE及CEUS检查,判断病变性质,分析TTE及CEUS检查的表现特点。结果:26例患者中有6例确诊为血栓,14例确诊为良性肿瘤及赘生物,6例确诊为恶性肿瘤。TTE检查结果确诊5例血栓、9例良性肿瘤及赘生物,误诊1例血栓为黏液瘤,其余11例未能定性。CEUS检查结果与手术病理及临床诊断结果相一致。良、恶性病变造影增强程度及灌注方式比较,差异均有统计学意义(均P0.05)。结论:在诊断心脏占位性病变中,TTE根据病灶形态、边界及有无心包积液结合病史可做出初步诊断,CEUS根据造影剂增强程度及灌注方式可有助于鉴别血栓和肿瘤性病变、肿瘤性病变的良恶性,从而提高诊断的准确率。     

心脏超声造影在心脏占位性病变诊断中的应用

目的分析心脏超声造影在心脏占位性病变诊断中的应用价值。方法选择2013年6月~2015年6月我院收治的心脏占位性病变患者46例作为研究对象,对其实施超声心动图及超声造影检查,观察患者心脏占位性病变的类型、位置、形态、大小、与临近组织的关系及内部回声等。结果患者经超声心动图检验后发现,占位性病变类型为血栓26例,肿瘤20例;心脏超声造影检查诊断结果与心动图诊断结果一致,20例肿瘤患者中,良性肿瘤15例,恶性肿瘤5例。结论心脏超声造影检查在诊断心脏占位性病变中的诊断价值较高,能准确观察到患者病变位置、形态、大小、内部回声情况及与临近组织的关系等,为临床治疗提供有力参考。     

“3+1”复合超声切面筛查胎儿复杂先天性心脏病在二级医院应用的体会

目的:探讨"3+1"复合超声切面在二级妇幼保健院产前筛查胎儿心脏复杂畸形中的价值。方法:对自2010年1月至2012年10月,来我院进行产前筛查的4 538例孕妇应用"3+1"复合超声切面(四腔心+左、右心室流出道+三血管)进行胎儿心脏筛查,采集包括大血管起始位置、数目、内径和相对位置关系等数据。可疑异常病例经"绿色通道"转诊上级医院会诊,对证实确有复杂畸形的病例引产后争取尸检,继续妊娠者行出生后超声心动图检查。结果:4 538例中,应用"3+1"复合筛查切面疑及胎儿心脏畸形共53例,经三级会诊医院确定53例均为心脏结构异常。出生后超声及中止妊娠后胎儿尸检共证实先天性心脏异常73例。产前筛出复杂畸形36例,出生后超声心动图检查及尸检共确认复杂先天性心脏病(CHD)38例,证实产前筛查中漏诊2例,CHD的产前筛查灵敏度94.7%(36/38)。产前筛查发现的简单CHD以室间隔缺损为主,共13例,产前与生后不符3例(假阳性),生后证实室缺31例,产前漏诊21例(67.7%)。产前发现单纯肺动脉瓣狭窄2例,右位主动脉弓2例,与生后超声诊断相符。结论:"3+1"复合超声筛查切面容易掌握,能筛查出大部分复杂心脏畸形,可作为产前胎儿心脏畸形筛查的主要方法在基层推广使用。     

孕中晚期胎儿主静脉系统畸形漏误诊分析

目的:探讨胎儿超声心动图对孕中晚期胎儿主静脉系统漏误诊原因,以提高产前诊断率。方法:连续入选2010年8月至2013年12月间,于北京安贞医院行产前胎儿超声心动图检查并对引产或出生后死亡胎儿行病理解剖,产后存活婴幼儿行超声心动图随访胎儿共718例,最终确诊主静脉系统畸形121例。结果:1经病理解剖或出生后随访确诊主静脉系统畸形胎儿121例,其中永存左上腔静脉占78.4%,复杂型主静脉系统畸形占11.2%,下腔静脉近心段缺如占8%,永存左下腔静脉占0.8%,而文献所报道的双下腔静脉在本研究中未得到证实。2根据各种类型主静脉系统畸形的解剖变异不同,各种畸形误诊内容差异较大。3产前诊断对永存左上腔静脉和下腔静脉近心段缺如的误诊率较高,而复杂型主静脉系统畸形和永存左上腔静脉约登指数相对较高。结论:提高各种类型主静脉畸形的病理解剖及血流动力学改变,熟悉常见主静脉系统常规及非常规切面,并掌握各类主静脉畸形超声诊断要点是提高产前诊断率的有效途径。     

胎儿心脏外翻畸形超声诊断的漏诊与误诊分析

摘要：目的分析胎儿心脏外翻畸形超声诊断的漏诊与误诊原因,提高胎儿心脏外翻的检出时机和检出率。方法：选取北京四季青医院2010年至2019年3000例患者中经引产或上级产前诊断机构证实诊断为心脏外翻畸形的胎儿有4例,每一例心脏外翻畸形的诊断都有产前诊断机构对照;总结超声诊断心脏外翻畸形特点,观察心脏搏动位置,心脏大血管连结方向,以及胸腹壁是否连续性中断,及胸腹壁是否有不均质回声包块,并且能在包块内发现心脏搏动。尤其是上级医院与引产后和产前诊断中心超声结果比较,分析超声发生漏诊和误诊的原因。结果：该组病例中发现心脏外翻畸形4例,其中超声诊断3例, 漏诊1例,误诊1例,其中误诊1例为将Cantrell五联征误诊为胎儿多发畸形,分别独立诊断了心脏外翻畸形,胸裂,腹裂,脊柱结构异常。结论：全面认真分析胎儿心脏外翻畸形超声检查的漏诊与误诊原因,避免出现漏诊和误诊的各种因素,准确把我提高超声对心脏外翻畸形的检出时机,达到提高疾病检出率的目的。     

Fetal echocardiography and clinical genetics--a close correlation

Improving techniques in fetal echocardiography have important implications in the field of clinical genetics. 1) Fetal echocardiography in pregnancies with families with increased recurrence risks for congenital heart disease (CHD): In 473 pregnancies with increased recurrence risks for CHD second-trimester fetal echocardiography was performed. In 11 cases (2.3%) cardiac malformations were present that could be diagnosed in five cases prenatally (hypoplastic left heart, complete atrioventricular canal defect with hypoplastic left ventricle, preductal coarctation of aorta, tetralogy of Fallot, complete atrioventricular canal defect). In six cases the prenatal diagnosis could not be performed (total anomalous pulmonary venous connection [one case], secundum atrial septal defect [two cases], ventricular septal defect [three cases]). The recurrence risk in families with one previously affected child was 1.4% (5/364), and 17.6% (3/17) in families with two previously affected children. In two out of 44 cases with one affected parent a CHD could be diagnosed, in both cases one previous child was already affected. 2) Congenital heart defect as a common symptom in malformation syndromes: CHD is common as a symptom in malformation syndromes. The demonstration of a fetal CHD can lead to diagnosis of a complex malformation syndrome and it is integral in prenatal diagnosis in cases with increased recurrence risks for a complex malformation syndrome. The sonographic diagnosis of a CHD may signal associated chromosomal disorders. Between January 1986 and December 1988 in 433 cases with prenatally diagnosed congenital malformation and/or severe fetal growth retardation a prenatal chromosome analysis was performed. Within this group 77 fetuses demonstrated a CHD and 28 (36%) out of these revealed a chromosomal disorder. The genetic basis of CHD, the most common complex syndromes with CHD, and the principles of genetic counseling in families with CHD are summarized.     

Accuracy of the Fetal Echocardiogram in Double-outlet Right Ventricle

Objective. Double-outlet right ventricle (DORV) is a complex congenital heart defect with heterogeneous anatomy. Patients require a variety of surgical interventions, and the long-term prognosis is variable. Therefore, accurate prenatal diagnosis is important in providing parents with appropriate counseling. Design. Medical records were reviewed in patients with a diagnosis of DORV who had fetal echocardiography at our institution from 1998 to 2004. Pre- and postnatal diagnoses were compared, anticipated surgical procedure was compared with surgery performed, and neonatal outcome was assessed. Results. The study group consisted of 49 fetal patients with 6 in utero deaths (including 4 terminations), 2 patients lost to follow-up, and 41 live births. Postnatal echocardiograms or autopsy results were available on 42 patients. The overall accuracy of fetal echocardiography in making a correct diagnosis of DORV was 76%. Accurate prenatal prediction of the type of cardiac surgery that would be performed was made in 91% of patients who had surgery. Among live births, survival to hospital discharge was 76%. Survival was 50% in patients with extracardiac or chromosomal anomalies, compared with 92% in infants without additional anomalies. Conclusion. In most cases, careful evaluation by fetal echocardiography can determine essential anatomic details in fetuses with DORV with enough accuracy to allow for accurate counseling regarding the type of surgery needed. Survival is better than previously reported but is poor in patients with extracardiac or chromosomal abnormalities.     

Clinical Features of the Complete Closure of the Ductus Arteriosus Prenatally

Objective. Prenatal constriction of the ductus arteriosus associated with maternal drug ingestion was reported several decades ago. There are fewer reports of the complete closure of the ductus arteriosus; therefore, the clinical features of the latter are poorly understood. The aim of this study is to clarify the clinical features of complete ductal closure and postnatal pulmonary hypertension by performing echocardiography of the fetus. Patients. We diagnosed four fetuses with complete ductal closure by performing fetal echocardiography and reviewed the prenatal and postnatal medical records of the mother and fetus. Results. One mother each had bronchial asthma, ulcerative colitis, and idiopathic thrombocytopenic purpura, and they had received nonsteroidal anti‐inflammatory drugs and/or corticosteroids during pregnancy. The fourth mother did not have basal disease and had not ingested any drugs. Fetal diagnosis was performed at 32–38 weeks of gestation. All fetuses had right heart dilatation with tricuspid regurgitation in the absence of any cardiac defects, and Doppler echocardiography indicated that the right ventricular pressure was elevated. Two of the fetuses had fetal hydrops, which suggested severe right heart dysfunction. All fetuses were delivered by emergent cesarean delivery. After birth, all the infants developed persistent pulmonary hypertension and required oxygen inhalation. Of these, three required mechanical ventilation, and two, nitric oxide inhalation. All infants improved within 2 weeks, and they had no neurological and cardiac complications after discharge. Conclusion. Right heart dilatation and severe tricuspid regurgitation in the absence of a cardiac defect in the fetus strongly suggested ductal dysfunction. Careful evaluation of ductal patency and right ventricular function can lead to precise early diagnosis and good prognosis.     

胎儿心脏超声智能导航技术检查胎儿心脏先天性畸形的临床应用价值

目的 探讨胎儿心脏超声智能导航技术检查胎儿心脏先天性畸形的临床应用价值.方法 选择2018-07～2019-12于成都市第一人民医院经胎儿超声心动图检查诊断为胎儿心脏先天性畸形的单胎11例.于孕18.4～30.0(24.7±2.7)周应用胎儿心脏超声智能导航技术进行检查,分析先天性心脏畸形胎儿的心脏容积数据及9个胎儿心...     

Differential Diagnosis of Cardiac Malposition by Fetal Echocardiography

To explore the method and operating skill of fetal echocardiography in diagnosing cardiac malposition.Methods 91 consecutive fetuses were studied （control： 50 cases, cardiac malposition ： 41 cases） between 2003 and 2008. The position of fetal heart was evaluated according to the fetal posture and the visceral situs by fetal routine scan- ning. The detailed echocardiography should be performed in the differential diagnosis of cardiac lesions when the heart was found to be abnormal position. Results In the control group, all fetuses were levocardia. 39 cases of cardiac mal- positions were detected by fetal echocardiography, included 25 fetuses with dextrocardia, 6 mesocard, 5 with levover- sion of heart, 3 common heart of conjoined twins and 2 extrathorax heart. Two of dextroversion were missed by fetal routine scanning, but found by autopsy or operation after birth. Conclusions When the abnormal visceral situs was found by fetal routine scanning , there is exceedingly high incidence of cardiac malpositions. Proficiently operating skill of fetal echocardiography is helpful to detect abnormal fetal cardiac position. （ S Chin J Cardiol2009 ; 10 （1） ： 23 -25）