胎儿超声心动图在产前常规筛查先天性心脏病中的作用评价

对胎儿超声心动图在产前常规筛查先天性心脏病中的作用进行综述，分析其背景和应用范围，并对其当今应用价值的争议进行了讨论。     

胎儿先天性心脏病产前诊断与干预策略

1 概述 　　先天性心脏病(先心病)是最常见的出生缺陷之一,占活产儿的0.8%～1.2%.我国每年新增先心病人15万～20万,其中严重、难治及生后易早期死亡的占20%～30%.……     

胎儿超声心动图产前诊断先天性心脏病准确性评价

目的 评价胎儿超声心动图产前诊断先天性心脏病的准确性.方法 回顾2001年1月至2007年12月诊断为先天性心脏病胎儿的超声心动图资料,将产前诊断与胎儿心脏病理诊断或出生后新生儿超声心动图诊断结果进行比较.结果 研究期间共诊断胎儿先天性心脏病113例,初次检查时平均孕周为26.8周.79例(70%)行胎儿心脏病理检查或新生儿超声心动图检查确诊,其中68例产前诊断与产后诊断相符,产前诊断准确率86%.锥干畸形诊断准确率77%(24/31),间隔缺损96%(26/27),瓣膜畸形90%(9/10),单心室畸形83%(5/6).产前假阳性诊断4例,阳性预测值95%(75/79).结论 胎儿超声心动图检查是先天性心脏病产前诊断的有效方法,能够对各种常见类型的先天性心脏病进行准确诊断.完整的分段诊断是降低漏诊及误诊率,提高诊断准确性的关键.     

900例胎儿超声心动图诊断胎儿先天性心脏病的体会

目的　探讨胎儿超声心动图对胎儿期先天性心脏病的诊断方法及应用价值。方法　 1989年 11月～ 2 0 0 0年 11月对 90 0名高危孕妇行胎儿超声心动图检查。孕妇年龄 2 2～ 39岁 (2 7 9岁± 3 9岁 ) ,孕期 2 0～ 42周 (33 4周± 4 8周 )。首先应用二维超声心动图 (2DE)探察 ,横切胎儿胸部取标准四腔切面作为基础切面 ,旋转探头方向获取五腔心、大动脉短轴、左室长轴、主动脉弓长轴、下腔静脉长轴等切面 ,在清晰的切面图像上叠加彩色多普勒信号 ,观察心内有无异常血流 ;以脉冲多普勒记录主、肺动脉瓣及二、三尖瓣血流频谱或异常湍流频谱。结果　胎儿期先天性心脏病发病率3 78% (34 / 90 0 ) ,胎儿超声心动图诊断胎儿先天性心脏病的敏感性 92 %、特异性 95 %、阳性预测值 91%、阴性预测值96 %。结论　胎儿超声心动图诊断胎儿先天性心脏病的敏感性、特异性高 ,为妇产科及儿科医生提供有价值的资料 ,应作为高危孕妇的常规检查     

产前超声筛查对妊娠中期胎儿复杂先天性心脏畸形的诊断价值

目的探讨产前超声筛查对妊娠中期胎儿复杂先天性心脏畸形的诊断价值。方法回顾性分析2012年2月—2014年2月在我院进行产前超声筛查的9 300例妊娠中期孕妇的超声检查资料,比较超声检查结果和产后随访结果。结果 9 300例孕妇共检出27例复杂先天性心脏畸形胎儿,检出率为0.29%。超声筛查对心内膜垫缺损、大动脉转位、单心房/单心室、左心/右心发育不良、永存动脉干、主动脉弓中断、左室横纹肌瘤、法洛四联征、合并心外畸形及室间隔缺损的检出率与随访结果比较,差异无统计学意义(P0.05);共漏诊5例(0.05%),其中法洛四联征1例、肺动脉狭窄2例、室间隔缺损2例。结论产前超声检查对妊娠中期胎儿复杂先天性心脏畸形的诊断准确率较高,能有效降低复杂先天性心脏畸形胎儿出生率,是实现优生优育的重要手段。     

产前彩色多普勒超声检查在胎儿先天性心脏病诊断中的应用

目的 探讨胎儿先天性心脏病（先心病）的有效诊断方法及依据。方法 随机选择孕24～42周的孕妇12000例,用彩色多普勒超声（彩超）及胎儿心电记录技术进行胎儿心脏四腔观、胎心率（律）及胎心各腔血流检测。对由此诊断为先心病的胎儿进行随访,其中引产者进行尸解,分娩出生者进行彩超复查。结果 产前共检出胎儿先心病69例,其中28例经引产后尸解证实,41例出生后经彩超复查证实。69例均见胎心异常血流,其中伴胎心四腔观异常57例,无四腔观异常12例。检出心律失常胎儿136例,其中确诊先心病5例。彩超检查无异常发现的胎儿中,产后发现先心病5例。结论 产前彩超检查是诊断胎儿先心病的有效方法,胎儿心脏四腔观是诊断胎儿先心病的重要依据,配合胎儿心腔血流及心律的检测,更有利于发现胎儿先心病。     

产前彩色多普勒超声快速筛查胎儿先天性心脏病方法初探

目的探讨应用彩色多普勒超声快速筛查胎儿先天性心脏疾病的方法。方法对6 307例孕22～28周的孕妇进行系统胎儿超声检查,重点观察胎儿心脏。心脏检查方法:确定胎方位,确定胃泡与肝脏的位置,采用四腔心切面头侧偏转法获得四腔心、左室流出道、右室流出道、三血管或三血管气管切面,如有异常者进行超声心动图检查,用顺序节段法进行分析。结果检出心脏畸形32例,孕周在22～25周,胎儿处于脊后位时检查时间最短。结论四腔心切面头侧偏转法是一种简单、快速、易掌握、可靠的胎儿心脏筛查方法,孕周在22～25周,胎儿处于脊后位时检查,可提高筛查速度,减少漏诊率。     

产前超声检查对胎儿先天性心脏病的诊断价值

目的探讨产前超声检查对胎儿先天性心脏病(CHD)的诊断价值。方法采用胎儿四腔心、左右室流出道及三血管切面的四切面法对2 600例孕妇进行胎儿CHD筛查,并与引产后胎儿尸检结果或产后新生儿超声检查结果进行对比研究。结果 2 600例胎儿心脏四切面声像图显示完全良好者2 579例(余21例显示不良),其中诊断为CHD的胎儿46例,引产尸检或新生儿超声检查确诊41例,误诊5例,诊断准确率为89.1%;漏诊3例。产前超声检查对CHD的诊断敏感性为83.7%。结论产前超声检查在胎儿CHD诊断中具有安全、无创、操作简便、敏感性较高的特点,对于CHD的早期发现、早期干预以及人口素质的提高均具有重要意义。     

胎儿超声心动图产前诊断先天性心脏病的临床流行病学评价

胎儿超声心动图（简称胎儿心超）已成为产前诊断先天性心脏病的方法。本文就胎儿心超的诊断效率、成本－效益分析及胎儿心超应用于普查先天性心脏病之前需解决的一些问题进行综述。     

胎儿先天性心脏病的超声诊断及漏诊分析

目的探讨超声诊断胎儿先天性心脏病的可行性和临床价值。方法采用彩色多普勒超声对6000例孕20~40周的孕妇常规行胎儿四腔心,左、右室流出道,主动脉弓及动脉导管的观察。结果发现心脏畸形24例;经尸检及出生后心超证实。合关心外畸形7例。漏诊9例。结论超声诊断胎儿先天性心脏病是可行的,值得推广。     

Comparison of the 1-year survival rate in infants with congenital heart disease diagnosed by prenatal and postnatal ultrasound: A retrospective study

The impact of prenatal diagnosis on the survival outcome of infants with congenital heart disease (CHD) is still unclear. This study aimed to compare the 1-year survival rate between the prenatally and postnatally diagnosed infants with CHDs.A single-center population-based retrospective cohort study was performed on data from all infants diagnosed with CHD born between January 1998 and December 2017. Among infants with isolated CHDs, the 1-year Kaplan–Meier survival probabilities for prenatal and postnatal diagnosis were estimated. Cox proportional hazard ratios were adjusted for critical CHD (CCHD) status and gestational age.A total of 424 (40 prenatally and 384 postnatally) diagnosed infants with CHDs were analyzed. Compared with non-CCHDs, infants with CCHDs were more likely to be prenatally diagnosed (55.0% vs 18.0%; P < .001). Among the 312 infants with isolated CHDs, the 1-year survival rate for the prenatally diagnosed was significantly lower than postnatally diagnosed (77.1% vs 96.1%; P < .001). For isolated CCHDs, the 1-year survival rate for the prenatally diagnosed was significantly lower than postnatally diagnosed (73.4% vs 90.0%; P < .001). The 1-year survival rate was increased with the increase of age at diagnosis. Among infants with isolated CHDs and CCHDs, the adjusted hazard ratios for 1-year mortality rates for the prenatally versus postnatally diagnosed were 2.554 (95% confidence interval [CI], 1.790, 3.654; P < .001) and 2.538 (95% CI: 1.796, 3.699; P < .001), respectively.Prenatal diagnosis is associated with lower 1-year survival rate for infants with isolated CCHDs. This could probably due to variation in the disease severity among the CCHD subtypes.     

Evolution and long term outcome in cases with fetal diagnosis of congenital heart disease: Italian multicentre study

OBJECTIVES—To analyse the evolution and outcome in utero and after birth of infants with a fetal diagnosis of congenital heart disease.
DESIGN—Inclusion criteria were the fetal diagnosis of congenital heart disease, confirmed postnatally or postmortem, and a complete follow up in utero and after birth.
SETTING—20 centres operating prenatal echocardiographic screening.
PATIENTS—847 cases were included in the study. Gestational age at diagnosis ranged from 15-39 weeks; in 370 cases (43.7%) the diagnosis was made before 24 weeks' gestation.
RESULTS—245/847 cases (28.9%) were terminated during pregnancy, 227 following early diagnosis; 128/245 cases (52.2%) had associated anomalies and 117/245 (47.8%) had serious congenital heart disease. Of the remaining 602 cases that continued the pregnancy, 72 (11.9%) died in utero, 259 (43%) died postnatally (83 after surgery or invasive procedures), and 271 infants (45%) survived and presently range in age from 18 months to 13 years old. The mortality rate was higher in cases with associated extracardiac or chromosomal anomalies (68% and 74% of cases continuing pregnancy, respectively), and in cases with heart failure and complex cardiac defects.
CONCLUSIONS—The data confirm a relevant fetal and postnatal loss in cases with complex congenital heart disease, and major clinical use of prenatal diagnosis in the management of ductus dependent anomalies. Negative prognostic factors for the outcome were associated anomalies and heart failure.


Keywords: fetal echocardiography; congenital heart disease; prenatal diagnosis     

Magnetic resonance imaging of complex congenital heart disease

Current MR techniques enable both anatomical and functional evaluations of the heart. Although it is rarely used as a primary diagnostic tool in pediatric cardiology, it can be used as a valuable adjunct to echocardiography and angiography. MRI is particularly useful in clarification of morphology of complex congenital heart diseases. It is the most accurate method of determination of visceral and atrial situs. It is easy to evaluate the systemic and pulmonary venous connections that are very important for the Fontan type of operation, especially in patients with visceral heterotaxy. It facilitates demonstration of diminutive pulmonary arteries in patients with pulmonary atresia. It clearly demonstrates juxtaposition of the atrial appendages that is often missed by echocardiography. The anatomy of the twisted atrioventricular connections is much more clear in MRI than in echocardiography. It enables en face imaging of ventricular septal defect that provides a surgical view. We find en face imaging particularly helpful in patients with double inlet left ventricle and transposition of the great arteries where the size of the ventricular septal defect governs the blood flow into the aorta. It is often advantageous to echocardiography in defining the type of univentricular atrioventricular connections by demonstrating the position and topology of the rudimentary chamber in difficult cases. In double outlet right ventricle, the spatial relationship of the ventricular septal defect to the great arterial valves can be clearly defined by visualizing the ventricular septal defect and the outlet septum in the same imaging plane.     

Pulmonary intravascular ultrasound in infants and children with congenital heart disease

A three-layered appearance of the pulmonary arterial wall has only been described by intravascular ultrasound in adults or autopsy studies of patients with pulmonary hypertension. Thus, pulmonary intravascular ultrasound was performed in 11 patients during heart catheterization to test the hypothesis that distinct layers of peripheral pulmonary arteries can be imaged in infants and children with congenital heart disease. A 3.5 Fr 30 MHz ultrasound catheter was used to image proximal pulmonary arteries with an internal diameter of 3 to 6 mm and distal pulmonary arteries with an internal diameter of 1.5 to 2 mm. Three layers were identified in the proximal arteries of 10 patients but could not be identified in the distal arteries of any patient. There was a significant linear correlation between the indexed dimension of the medial echolucent vascular wall layer and pulmonary vascular resistance. We conclude that intravascular ultrasound can identify vascular changes consistent with medial hypertrophy in the branch pulmonary arteries of young patients with corresponding degrees of pulmonary hypertension. Cathet. Cardiovasc. Diagn. 41:395–398, 1997. © 1997 Wiley-Liss, Inc.     

Case of congenital bronchial atresia detected by fetal ultrasound

Congenital bronchial atresia is an anomaly characterized by a mucocele associated with a blindly terminating segmental or lobar bronchus. We report on a case of congenital atresia of the left superior segmental bronchus (B6) followed by fetal ultrasonography, which showed a large simple cyst with a surrounding small echogenic area. A large cyst and persistent lung fluid in the affected segment were noted in the early neonatal period.     

复杂先天性心脏病双源螺旋CT诊断的标准化

目的:探讨图像后处理标准切面重建序列能否提高双源螺旋CT对小儿复杂先天性心脏病的诊断准确性。方法: 经心腔开放性手术确诊的小儿复杂先天性心脏病患者38（男18,女20）例,月龄（15±6）月,体质量（10±5） kg。以手术结果为标准,对比传统经验法和标准切面重建序列法对复杂先天性心脏病心内结构性畸形的诊断准确率。结果: 标准切面重建序列法对于复杂先天性心脏病心内结构性畸形的诊断的灵敏度优于传统经验法（95% vs. 86%,P<0.05）,而诊断的特异度和准确度无显著差异。结论: 标准切面重建序列的图像后处理技术可以提高双源螺旋CT对小儿复杂先天性心脏病心内结构性畸形诊断的灵敏度。     

Fetal echocardiography for planning perinatal and delivery room care of neonates with congenital heart disease

Fetal echocardiography facilitates the prenatal diagnosis of infants with congenital heart disease (CHD) and through sequential examinations, allows assessment of fetal hemodynamics and cardiovascular status from the time of diagnosis to delivery. Fetal cardiologists have created diagnostic protocols aimed at risk stratifying severity and potential postnatal compromise in fetuses with CHD, and identifying those who may require special intervention at birth or within the first days of life. In this article, we review fetal cardiovascular physiology, the progression of CHD in utero and fetal echocardiographic findings used for risk stratification of newborns with CHD, as well as some of the basic principles of planning for the neonatal resuscitation and initial transitional care of these complex newborns.