先天性心脏畸形的产前诊断及临床分析

目的探讨先天性心脏畸形的产前诊断及临床意义。方法本研究应用Yagel5个心脏横面和心脏长轴切面进行胎儿心脏扫描，并有效多普勒血流技术、彩色血流、M型超声等超声仪器各项功能技术，对2002至2004年982例先天心脏畸形高危患者进行胎儿心脏全方位检查，并对引产胎儿进行尸体解剖核对产前诊断的正确性，并进行胎儿染色体分析；对产前诊断未发现明显异常的胎儿进行临床随访，胎儿出生后进行新生儿或要儿心脏超声检查，判定产前诊断的正确性。结果（1）982例先天心脏畸形高危患者中，检查发现胎儿心脏结构异常为46例（4．7％）。其中应用单纯四腔心即能诊断的先天性胎儿心脏结构异常为32例，其余14例需同时结合其他心脏检测平面诊断。（2）41例引产胎儿中，32例进行尸体解剖，病理结果与产前超声检查符合率为93．8％（30／32），其中1例患者病理诊断为永存动脉干畸形，产前诊断为法洛四联症；另1例为右心室双流出道畸形，产前诊断为大动脉转位。（3）46例患者中，32例进行胎儿染色体检测，合并染色体异常8例（25．0％）。（4）5例为产前诊断右心系统略大胎儿，分娩后新生儿或要儿心脏超声检查，结果与产前基本相同，表现为单纯右心系统略大，但新生儿和要儿无任何临床症状。（5）936例产前诊断为正常胎儿心脏患者，新生儿或要儿心脏超声检查发现室间隔缺损1例，动脉导管未闭2例，房间隔缺损1例。结论（1）应用本研究方法，以先天心脏畸形高危患者为筛查对象，产前诊断先天性心脏畸形阳性率为4．7％，产前诊断与尸体解剖符合率为93．8％。（2）应用本研究方法可使高危人群产前诊断胎儿先天性心脏畸形的敏感性达92．0％，特异性达99．6％。（3）单纯左右心比例轻中度失调胎儿可能有较好的临床预后。     

超声心动图对胎儿先天性心脏结构异常的诊断价值

目的探讨超声心动图对胎儿先天性心脏结构异常诊断的价值.方法2004-01-2005-10江门市妇幼保健院对724例胎儿心脏进行了二维、M型、彩色多普勒血流显像检查.取胎儿四腔心切面,三血管平面,大血管短轴切面,左心室长轴切面,主动脉长轴切面,右室两腔切面等多切面检查.结果724例胎儿超声心动图检查中15例诊断胎儿先天性心脏结构异常,4例伴有多发畸形.13例进行了治疗性引产,其中9例均经尸解证实超声诊断结构,4例拒绝尸解;1例心包积液;1例超声诊断为卵圆孔增大,出生后复查心脏结构未见异常.709例产前超声心动图检查未发现异常者3例于出生后发现先天性心脏病.结论超声心动图对胎儿先天性心脏结构异常的诊断具有重要价值.四腔心切面、三血管平面是超声诊断先天性心脏结构异常最重要的切面.     

新生儿三尖瓣下移畸形合并B型预激综合征1例

本文报道1例新生儿三尖瓣下移畸形合并B型预激综合征。患儿胎龄39周娩出, 生后2 d诊断三尖瓣下移畸形合并B型心室预激, 经内科治疗后好转出院。追溯产前超声检查, 胎龄20周胎儿超声心动图未提示异常, 但38周因胎心率过快行M型超声检查诊断室上性心动过速。三尖瓣下移畸形的心脏解剖结构异常不仅导致血流动力学的改变, 而且会引起快速性心律失常。因此对于产前心脏超声检查到室上性心动过速或者出生后心电图检查到B型预激综合征的患儿, 应当在心脏超声检查中仔细扫查三尖瓣, 以免漏诊。     

超声监测胎盘血管瘤24例分析

目的：探讨联合应用多种超声检查方法产前监测胎盘血管瘤的方法和价值。方法：回顾性分析和总结24例胎盘血管瘤的声像图、病理及临床资料。结果：24例中有22例经产前超声诊断,超声检出率为92%。瘤体最大116 mm×106 mm×72 mm,最小30 mm×20 mm×20 mm。并发症包括羊水过多（4例）、胎儿畸形（4例）、早产（3例）、新生儿窒息（2例）和妊娠期高血压疾病（4例）等。应用胎儿超声心动图监测胎儿心功能7例,指导临床选择适当的治疗时机。声像图表现为实质型（20例）和混合型（2例）。结论：超声检查是产前监测胎盘血管瘤的首选方法和有利工具。二维超声可以发现胎盘血管瘤并监测肿瘤的生长速度,彩色多普勒超声可以观测肿物的血流状态,胎儿超声心动图检查技术（包括胎儿心输出量的计算）可以监测胎盘血管瘤对胎儿循环、心脏功能的影响,及时为临床医生提供诊断依据,选择治疗和处理的时机。     

三个心脏超声切面在常见先天性心脏病产前诊断中的作用

目的 探讨三个胎儿超声心动图标准切面：四腔心切面、五腔心切面、三血管平面在发现和诊断胎儿常见先天性心脏病中的作用及对于先天性心脏病产前筛查的意义。方法 回顾2003年5月至2004年7月胎儿心脏畸形各病例的心脏超声图像，记录每一病例三个超声切面（四腔心切面、五腔心切面、三血管平面）的彩色多普勒超声图像表现，分析并总结各切面异常表现的特点。结果 （1）研究共包括胎儿心脏畸形病例26例，疾病类型包括房室间隔缺损、单纯性室间隔缺损、单心室、单心房、左心发育不良综合征、法洛四联症、右心室双出口、纠正性／完全性大动脉转位、动脉单干、主动脉瓣狭窄、肥厚性心肌病（梗阻型）、心脏肿瘤。（2）各心脏畸形病例在这三个心脏超声切面的扫查中至少有1个切面显示异常。每一类心脏畸形在这三个切面图像上均有特征性表现。（3）所有病例中二维四腔心切面（常规产科筛查切面）显示异常的比例为73％，四腔心切面未显示异常的病例包括：完全性大血管转位3例、法洛四联症1例、右心室双出口1例、动脉单干1例、主动脉骑跨伴室间隔缺损1例。（4）各标准切面获得率分别为：96．2％、88．5％、84．6％。结论 （1）四腔心切面、五腔心切面、三血管平面这三个胎儿彩色多普勒心脏超声切面探查在各类胎儿常见的先天性心脏病超声产前检查与诊断中起重要的作用。（2）与运用单个二维四腔心切面探查比较，三个切面的探查方法可提高常见先天性心脏病，尤其是胎儿心脏锥干畸形的检出率。（3）三个切面探查操作较为简便，有望成为一项胎儿先天性心脏病的筛查方法。     

超声心动图的四腔心切面产前诊断胎儿先天性心脏病的价值

目的 探讨超声心动图的四腔心切面（四腔心切面）产前诊断胎儿先天性心脏病（先心病）的价值。方法 回顾性分析780例妊娠16-36周通过四腔心切面进行产前诊断是的孕妇及其新生儿的临床资料。结果 780例胎儿中,94.6%,(738/780)的胎儿可以获取满意的四腔心切面,其中3例胎儿异常,1例为三尖瓣下移畸形（Ebstein综合征）,1例为严重的室间隔缺损,1例为单心房单心室和主动脉狭窄,例1和例3分别于出生后行尸体解剖和新生儿超声心动图检查,均符合产前诊断,例2出生后超声心动图检查证实为单心房和单心室,其余777例新生儿中,出生后身体检查并追踪至产后6周,发现3例先心病,其中1例室间隔缺损,1例房间隔缺损,1例房间隔缺伴肺动脉狭窄,四腔心切面诊断胎儿先心病的敏感性为50%,特异性为100%。结论 四腔心切面可以显示胎儿心脏的大部分结构,探测成功率高,对先心病的宫内诊断有较高的敏感性和极高的特性,可将胎儿四腔心切面作为常规的产检查项目。     

胎儿心脏超声Yagel法扫描在产前诊断双胎妊娠胎儿先天性心脏病中的价值

目的探讨胎儿心脏超声Yagel法扫描对双胎妊娠胎儿先天性心脏病的产前诊断价值。方法1103例双胎妊娠孕妇中,有胎儿先天性心脏病的高危病史孕妇127例（高危双胎组）,正常双胎妊娠孕妇976例（低危双胎组）。应用超声Yagel法对两组双胎妊娠胎儿进行心脏5个心脏横切面（胎儿腹部胃泡平面、四腔心平面、五腔心平面、三血管气管平面和动脉弓平面）快速扫描,并对诊断为先天性心脏病而引产的胎儿进行尸体解剖,以核对产前超声Yagel法诊断的正确性,同时进行胎儿染色体分析;对未引产或产前诊断未发现明显异常的胎儿进行临床随访,胎儿出生后进行新生儿或婴儿的心脏超声检查,判定产前超声Yagel法诊断的正确性。结果（1）1103例双胎妊娠中,有12例产前发现有先天性心脏病,检出率为1．09％,其中4例（33．3％,4／12）来自高危双胎组,8例（66．7％,8／12）来自低危双胎组。（2）2例双胎为两个胎儿同时患同一种先天性心脏病,其中1例双胎胎儿均为法洛四联症（TOF）,另1例双胎两个胎儿均为心脏横纹肌瘤;1例双胎为两个胎儿患不同类型异常,一胎儿为TOF,另一胎儿心脏正常,但十二指肠闭锁。上述3例患者均选择终止妊娠放弃胎儿,尸体解剖结果与产前超声诊断相同。9例双胎仅一胎儿受累为先天性心脏病,另一胎儿正常,均足月分娩或自然早产,其中7例在行新生儿心脏检查时得出的诊断与产前相同。（3）12例中,2例有先天性心脏病的双胎被发现染色体异常。（4）1091例双胎妊娠孕妇产前超声检查未发现胎儿心脏异常,但其中1例双胎中的1个胎儿出生后被诊断为室间隔缺损（VSD）,染色体异常（为21三体）。另1个胎儿正常。另1例双胎中的1个胎儿出生后被诊断为动脉导管未闭,另1个胎儿正常。（5）应用超声Yagel法产前诊断双胎先天性心脏病的敏感度为82．4％,特异度为100％。结论心脏超声Yagel法是筛查和诊断双胎妊娠中胎儿先天性心脏病的简单、有效和可靠方法,值得在临床产前诊断中推广应用。     

产前超声诊断胎儿小眼畸形的价值

目的:探讨产前超声诊断对胎儿小眼畸形的价值。方法:回顾分析2013年4月30日至2019年4月30日四川大学华西第二医院超声科产前超声检查提示小眼畸形的胎儿超声图像及临床资料。结果:产前超声诊断小眼畸形胎儿12例,孕妇平均年龄27.92±4.50岁(高龄1例);平均孕周26.33±3.50周。12例胎儿中单侧小眼畸形8例,双侧小眼畸形4例;单纯小眼畸形3例,合并其他部位发育畸形9例(颜面部结构异常5例;颅内结构异常6例;胸部发育异常2例;心脏发育异常3例;消化系统发育异常2例;多囊性肾发育不良1例;腹腔积液1例;羊水过多4例);重度小眼畸形8例。12例胎儿中7例行羊水穿刺或引产后胎儿染色体检查,其中4例无明显异常,3例胎儿染色体异常(13-三体综合征2例;21-三体综合征1例)。2例孕妇及配偶行自身染色体检查,其中1例母亲染色体为46,XX,inv(9)(p12q13),父亲染色体未见明显异常(其胎儿染色体未见明显异常);另1例双方染色体均未见明显异常(其胎儿染色体结果为21-三体综合征)。所有产前超声诊断胎儿小眼畸形的孕妇均选择引产,引产后证实与产前诊断结果一致,产前超声诊断小眼畸形符合率为100%。结论:产前超声检查能够直观地观察胎儿眼部发育情况,对产前诊断胎儿小眼畸形具有重要的临床意义。     

胎儿超声心动图的研究与应用进展

胎儿心脏异常是所有胎儿先天性畸形中最常见的一种,胎儿心脏超声是胎儿超声检查中最重要且最复杂的一项工作.近年采用胎儿超声心动图技术探索新检查途径、摸索新方法,使胎儿超声心动图在胎儿心脏畸形的产前诊断中获得较高的临床评价.通过对胎儿超声心动图新技术、新途径、新方法的认识与学习,对胎儿心脏畸形的产前诊断水平将会有所提高.     

胎儿超声心动图的研究与应用进展

胎儿心脏异常是所有胎儿先天性畸形中最常见的一种，胎儿心脏超声是胎儿超声检查中最重要且最复杂的一项工作。近年采用胎儿超声心动图技术探索新检查途径、摸索新方法，使胎儿超声心动图在胎儿心脏畸形的产前诊断中获得较高的临床评价。通过对胎儿超声心动图新技术、新途径、新方法的认识与学习，对胎儿心脏畸形的产前诊断水平将会有所提高。     

Prenatal diagnosis of truncus arteriosus using multiplanar display in 4D ultrasonography

Abstract

Prenatal diagnosis of truncus arteriosus with two-dimensional sonography requires expertise in fetal echocardiography. Indeed, truncus arteriosus shares with tetralogy of Fallot and pulmonary atresia with a ventricular septal defect (VSD) the sonographic finding of a single arterial trunk overriding a VSD. The diagnosis of truncus arteriosus can be confirmed when either the main pulmonary artery or its branches are visualized arising from the truncus itself. This requires sequential examination of multiple scanning planes and a process of mental reconstruction of their spatial relationships. The advantage of multiplanar imaging in three-dimensional and four-dimensional ultrasonography is that it allows for the simultaneous visualization of three orthogonal anatomic planes, which can be very important in diagnosing cardiac abnormalities. We report, first, a case of truncus arteriosus diagnosed in utero where the multiplanar display modality provided important insight into the differential diagnosis of this conotruncal anomaly, and then, review the diagnosis of truncus arteriosus on ultrasound.     

胎儿先天性心脏病和风疹病毒感染的关系

目的 探讨和分析孕妇风疹病毒感染与胎儿先天性心脏病(简称先心病)的关系,为提高先天性风疹综合征产前诊断率寻求方法.方法 对超声心动图诊断并要求引产的38例先心病胎儿行脐带穿刺,采用酶联免疫吸附试验测定脐血风疹病毒特异性抗体IgM. 结果 38例先心病胎儿中18例脐血风疹病毒IgM(+),占47.4%,其余20例IgM(-).18例风疹病毒IgM(+)胎儿按心脏异常结构出现频率排序:室间隔缺损10例、肺动脉发育异常9例、房室瓣异常6例、大动脉转位5例、主动脉骑跨4例.IgM(+)和IgM(-)组中属于圆锥动脉分隔异常或圆锥动脉干间隔旋转不足或方向相反的病例数分别为11例(61.1%)和5例(25.0%)(P<0.05). 结论 风疹病毒与胎儿先心病的发生有一定关联,可能影响胎儿心室分隔和圆锥动脉干发育.B超提示胎儿室间隔缺损、肺动脉发育异常、心肌瓣膜异常、大动脉转位时,应考虑到风疹病毒感染的可能.     

Prenatal diagnosis of conotruncal malformations: diagnostic accuracy, outcome, chromosomal abnormalities, and extracardiac anomalies

The purpose of this study was to determine whether continuing experience in prenatal diagnosis of conotruncal malformations (CTMs) has resulted in improved diagnostic accuracy and outcome. Previous reports have demonstrated particular difficulty with ascertainment of the spatial relationship of the great arteries in patients with CTM. The prognosis for fetuses with CTM was poor. Medical records of 113 consecutive fetuses in whom a CTM (tetralogy of Fallot [TOF], double-outlet right ventricle [DORV], type B aortic arch interruption, transposition of the great arteries [TGA], and persistent truncus arteriosus [TA]) was diagnosed antenatally between 1994 and 2003 were reviewed. The diagnosis of the 91 fetuses with CTM included TOF (n = 32), TGA (n = 29), DORV (n = 22), and TA (n = 8). The great arterial spatial relationship was diagnosed accurately in 84 of the 91 (92%) live-born infants. In the other seven infants with DORV, the great arterial spatial relationship was identified inaccurately. The overall survival to 30 days was 85 of 91 (93%). Twenty-three of 91 (25%) patients had extracardiac anomalies. Genetic diagnosis (amniocentesis) was obtained in 63 of 94 patients; 11 (17%) had chromosomal abnormalities. Maternal glucose tolerance results were obtained in 65 of the 91 patients and were abnormal in 25 of 65 (38%). Prenatal diagnostic accuracy of conotruncal malformations is excellent; the arterial spatial relationship of DORV remains problematic. The populations of fetuses with CTMs who continue to develop to term have an excellent prognosis.     

Conotruncal anomalies in fetal life: Accuracy of diagnosis, associated defects and outcome

Objectives

To assess the accuracy of prenatal echocardiography, associated anomalies, and outcome of fetuses with conotruncal anomalies (CTA).

Study design

We searched our database for CTA prenatally diagnosed between 1990 and 2005. We included tetralogy of Fallot (TOF), transposition of the great arteries (TGA), double-outlet right ventricle (DORV), truncus arteriosus (TA), pulmonary atresia with ventricular septal defect (PA-VSD) and posterior malalignment type VSD with aortic arch obstruction (pmtVSD-AAO). Data of 144 fetuses with complete follow-up were retrieved and analyzed.

Results

The main reason for referral was suspected heart defect on a routine obstetric scan (72%). Most cases were detected ≤22 weeks (55%). The presence of a CTA was confirmed postnatally in 143 cases (99%), and the diagnosis of the first fetal echocardiography was correct in 126 (87.5%). Most diagnosis of TOF (33/36, 91.7%), TGA (34/38, 89.5%) and DORV (34/38, 89.5%) were proved correct. Inadequate assessment of the interventricular septum, the distal aortic arch and/or the severity of the right outflow tract obstruction accounted for most errors. The accuracy rate was lower in TA (11/14, 78.6%) and PA-VSD (4/7, 57.1%), with evaluation of the branch pulmonary arteries as the main source of discrepancies. In 7/18 incorrect cases subsequent scans allowed to obtain a correct diagnosis. Most fetuses (64%) had an isolated CTA. Thirty-seven had chromosomal anomalies (26%) but none were found in TGA. 22q11 deletion affected 8.7% of the tested patients. Nuchal translucency (NT) was above 95th centile in 19/104 cases (18%) in which NT were measured. Fifty cases were interrupted. The overall one-year survival rate was 71%, with differences between cases with and without associated defects (9/25, 36% vs. 57/68, 83.8%; p < 0.01). The uncomplicated forms of TGA and TOF had the best survival rates (100%).

Conclusions

Most CTA can be diagnosed by fetal echocardiography with a high degree of accuracy. Chromosomal defects should always be ruled out, except for simple TGA. Current survival figures in many isolated CTA, especially simple TGA and TOF, support a change in the “classical” concept that congenital heart defects detected prenatally often have the worst outlook.

Condensation

Most CTA can be diagnosed by fetal echocardiography with a high degree of accuracy. Isolated CTA are more common and most of these may have a favourable outcome.     

A case of single umbilical artery with various fetal anomalies: correlations between prenatal ultrasonographic diagnosis and autopsy

We report a case of a single umbilical artery with various fetal anomalies, and a comparative study between prenatal ultrasonographic diagnosis and autopsy was done. The prenatal ultrasonographic diagnosis included, atrial septal defect (ASD), ventricular septal defect (VSD), mitral atresia or stenosis and a single great vessel. At autopsy, ASD, VSD, mitral atresia, overriding aorta and pulmonary atresia were evident. In case of other anomalies, the findings in the prenatal diagnosis and at autopsy were encephalocele, adrenal hypoplasia and a single umbilical artery. The ultrasonic detection of these anomalies is discussed and the limitations of this diagnostic method are given attention.     

Prenatal diagnosis of complete atrioventricular septal defect with truncus arteriosus

Truncus arteriosus (TA) is a rare cardiac anomaly constituting less than 1% of all congenital heart defects. Its association with complete atrioventricular septal defect (AVSD) is extremely unusual and only 12 cases diagnosed postnatally or postmortem have been reported so far. We describe the first case of truncus arteriosus with AVSD to be diagnosed prenatally by fetal echocardiography.     

Cardiac and extra-cardiac anomalies as indicators for trisomies 13 and 18: a prenatal ultrasound study

The purpose of the present study was to establish sonographic markers for prenatal diagnosis of trisomies 13 and 18. Retrospective analysis of sonographic morphology was therefore carried out in seven fetuses with trisomy 13, and 16 fetuses with trisomy 18. Gestational age ranged between 17 and 39 weeks (median 28 weeks). Polyhydramnios and symmetrical growth retardation were present in 14 of 23 fetuses. A cardiac anomaly was diagnosed in all 23 fetuses, the majority representing a ventricular septal defect (n = 8) or double outlet right ventricle (n = 8). Extra-cardiac anomalies were characterized by a high incidence of limb deformities (polydactyly, clenched hands, club feet; n = 15) and omphalocele (n = 7). We conclude that the combined appearance of cardiac and extra-cardiac anomalies should prompt fetal karyotyping. Cardiac anomalies in combination with fetal limb deformities and omphalocele are suspicious for trisomies 13 and 18.     

圆锥动脉干畸形胎儿297例的产前诊断和临床结局分析

目的:分析圆锥动脉干畸形（CTD）胎儿的产前诊断结果及临床结局,探讨CTD与染色体异常的相关性。方法:收集2011年1月1日至2019年12月31日在广州市妇女儿童医疗中心产前诊断中心因CTD进行介入性产前诊断及染色体分析的胎儿297例。根据超声诊断将CTD胎儿分为法洛四联症（109例）、肺动脉（干）闭锁（30例）、大...