Four-year experience with prenatal diagnosis of congenital heart defects at a single referral center in Japan with focus on inaccurately diagnosed cases

Purpose

To evaluate the accuracy of prenatal diagnosis of congenital heart defect at the referral level in our institution.

Methods

One hundred and thirty-two cases were referred for prenatal diagnosis of congenital heart defect (CHD). Cases having CHDs were divided into isolated and complex CHDs, and the prenatal and postnatal diagnoses were compared.

Results

Thirty-nine cases were diagnosed with CHDs. The remaining 93 cases were diagnosed as normal. Postnatal diagnosis confirmed that 39 cases had CHDs; there were 19 cases of isolated CHD and 20 cases of complex CHD. Among the 19 cases of isolated CHD, all four cases with a false negative diagnosis had ventricular septal defects of an outlet or muscular type with a small defect. Cases with a false positive diagnosis had coarctation of the aorta (3 cases) or total anomalous pulmonary venous connection (1 case). Among the 20 cases of complex CHD, the prenatal diagnoses in two cases were not the same as the postnatal diagnosis and the prognosis was worse than expected. In one case with a single ventricle, pulmonary stenosis, and pulmonary venous atresia, the prenatal diagnosis was hypoplastic left heart syndrome with a suboptimal study at 38?weeks’ gestation. In the other case, the diagnosis of corrected transposition of the great arteries had been missed because of misinterpretation of the anatomically right and left ventricles in utero.

Conclusions

There were three possible causes of misdiagnosis or overdiagnosis of CHD: disease orientation, timing of diagnosis, and skill of the examiners. This information may be helpful for the improvement of diagnosis.     

二维超声在胎儿先心病筛查中的应用

目的 探讨二维超声在胎儿先天性心脏病筛查中的应用,提高胎儿先天性心脏病的检出率。方法 以四腔心,左室长轴及心底短轴为主要切面,对3825例孕18周以上胎儿心脏进行初步筛查,并随访在本院分娩的新生儿,证实有先天性心脏病者,追踪其母孕期超声检查结果,对比先天性心脏病类型。结果 共检出心脏畸形8例,检出率0．21％。其中心内膜垫缺损2例,右室双出口1例,功能单心室1例,左室发育不良2例,室间隔缺损2例。其中6例为复杂重症先心病,占75％。2例室间隔缺损均大于6mm,并伴有心外畸形。结论 二维超声对胎儿心脏进行常规初步筛查,能够发现大多数胎儿心脏畸形,可作为初步筛查复杂先心病的方法。     

彩色多普勒超声对胎儿心脏病的诊断研究

目的 探讨彩色多普勒超声对胎儿心脏病的产前诊断价值。方法 随机对6000例孕妇进行胎儿超声心动图检查。结果 产前检出30例胎儿心脏病，16例经引产尸体解剖证实，产后彩超检查证实14例。声像图显示四腔心不对称者占30．0％（9／30），有室间隔缺损者占73．3％（22／30）。结论 常规胎儿心动图检查对产前检出胎儿心脏病具有重要的临床价值；四腔心不对称和室间隔缺损是胎儿心脏病最主要的声像图表现。     

胎儿超声心动图在胎儿先天性心脏病产前诊断中的临床价值

目的 探讨胎儿超声心动图在产前诊断胎儿先天性心脏病的临床意义。方法 选择妊娠＞16周,分娩前有高危倾向的孕妇310例行胎儿超声心动图检查。检查中着重观察胎儿腹部切面、胎儿四腔心切面、胎儿左右室流出道长轴或大动脉短轴切面、胎儿主动脉弓长轴切面。结果 共发现9例先天性心脏病胎儿,其中复杂先天性心脏病7例、单纯室间隔缺损1例、1例出生前未确诊,出生后诊断为法洛四联症。敏感性82％,特异性100％。结论 胎儿超声心动图早期诊断胎儿畸形,评价胎儿心功能的有用工具。其诊断的准确性受孕妇体形、胎儿体位以及检查者的经验积累等多方面因素的影响。     

彩色多普勒在诊断胎儿先天性心脏病的应用

先天性心脏病是胎儿的先天性畸形之一,其主要包括心脏异位、心肌肥厚、左心或右心的发育不良、单心腔、心室单入口或双入口、心室单出口或双出口瓣膜关闭不全或瓣膜闭锁、室间隔以及房间隔缺损等。而彩色多普勒是产妇在产前宫内诊断胎儿心脏血管异常不可缺少的一种无创影像学方式,其对于妊娠期间及早发现及诊断胎儿先心病具有相当重要的现实意义。不仅如此,正确、科学的进行产前彩色多普勒的检查,对于围产期的医学及优生优育也具有十分明显的意义。本文主要从彩色多普勒在胎儿先天性心脏病诊断中的应用现状、其所具有的优势及局限性以及彩色多普勒在诊断胎儿先天性心脏病中的发展趋势等方面进行论述的,希望能够为彩色多普勒的更加普及和应用有所裨益。     

超声监测筛查胎儿先天性心脏畸形

目的 探讨超声监测筛查胎儿先天性心脏畸形的可行性及临床应用价值。方法 对常规产前超声检查在胎心四腔观中疑有异常，临床发现胎儿心律不齐，以及母体有高危因素共20例行超声心动图检查。以观察胎儿四腔观为基础，酌情增加长轴、短轴、主动脉弓等切面观，并适当配合彩色多普勒及脉冲多普勒超声检查。结果 超声检查发现的20例先天性心脏异常中，17例先天性心脏病，其中1例右位心并完全性内脏转位，1例为单纯性室内隔缺损（生后证实其染色体为21三体），15例复杂性先天性心脏病；3例心脏肿瘤，其中2例为室间隔横纹肌瘤，1例为心室壁横纹肌瘤。20例心脏异常病例中4例同时合并其他器官结构异常，7例右位心及不同程度内脏转位，8例脐动脉A/B值异常，4例心律紊乱。结论 产前超声筛查胎儿先天性心脏畸形切实可行。对有高危因素、胎儿心律失常及其他内脏畸形者，应重点行超声心动图检查。     

The association between congenital heart disease and Down syndrome in prenatal life.

OBJECTIVE: To assess the relationship between congenital heart disease (CHD) and Down syndrome (DS) in utero. DESIGN: Retrospective case series. SUBJECTS: Fifty-two fetuses with a cytogenetic diagnosis of DS managed at our Fetal Cardiology Unit in the study period. In particular, two populations of fetuses with DS were studied: a group of 41 DS fetuses referred to our unit for fetal echocardiography due to the chromosomal anomaly and a second group of 274 fetuses referred because of suspected CHD, 11 of which were found to have DS. METHODS: All fetuses were submitted to detailed ultrasound evaluation of fetal anatomy. Associated extracardiac anomalies, and presence and type of CHD, were recorded for all fetuses. Karyotyping was obtained by means of cordocentesis or amniocentesis. Necropsy or neonatal echocardiograms were sought for confirmation of the prenatal diagnosis. RESULTS: In the group of 41 fetuses with known DS, the incidence of CHD was 56% ([atrioventricular septal defect (AVSD) 44%, ventricular septal defect (VSD) 48%], the remainder having other heart defects). Conversely, considering the incidence of DS in fetuses with CHD, 43% of all AVSDs (53% of AVSD with normal visceral situs) were associated with DS, whereas none of the 39 cases of VSD was associated with trisomy 21. Ventricular septal defects were diagnosed only in fetuses referred to our center with a known diagnosis of aneuploidy. CONCLUSIONS: We have confined that more than half of the fetuses with DS bear a CHD, which is an AVSD in 44% of cases. Conversely, 43% of fetuses with an AVSD have trisomy 21. For VSDS, the situation is controversial, due to the relatively low detection level of this heart defect at the routine mid-trimester obstetric scan.     

Abdominal wall defects and congenital heart disease.

OBJECTIVES: To determine the incidence of cardiac disease associated with abdominal wall defects of fetuses and associated parameters including maternal age, sex, gestational age at delivery, outcome, karyotypes, Apgar scores and associated congenital anomalies. METHODS: This was a retrospective study of fetuses with a prenatal diagnosis of gastroschisis or omphalocele. The Maternal-Fetal Medicine Fetal Therapy (MFM) database was reviewed for all fetuses with abdominal wall defects identified prenatally. All available MFM records, fetal echocardiograms, neonatal echocardiograms and neonatal charts were reviewed for the types of abdominal wall defects and associated cardiac disease identified by ultrasound. Other parameters reviewed included: maternal age, sex, gestational age at delivery, outcome, karyotypes (when available), Apgar scores and associated congenital abnormalities. RESULTS: Forty-eight fetuses with an abdominal wall defect and cardiac disease findings were identified. Of these fetuses 26 had gastroschisis and 22 had omphalocele. The mean maternal age was 24.0 +/- 5.40 years in the gastroschisis and 29.2 +/- 7.23 years in the omphalocele group (P < 0.01). Differences in mean gestational age at delivery, mean birth weight and median Apgar scores at 1 and 5 min were not statistically significant. Abnormal cardiac findings were seen in 4/26 (15%) cases of gastroschisis and included one case of peripheral pulmonary stenosis, two cases of supraventricular tachycardia and one case of persistent pulmonary hypertension (PPHN) of the newborn. Abnormal cardiac findings were seen in 10/22 (45%) cases of omphalocele and included one muscular ventricular septal defect, two atrial septal defects of the secundum variety, one ectopia cordis, one coarctation of the aorta, one dysplasia of the tricuspid valve, one large pericardial effusion and four cases of PPHN. CONCLUSIONS: Fetuses with omphalocele appear to have an increased risk not only of congenital heart disease (CHD) but also of perinatal cardiac abnormalities, especially PPHN. A prenatal maternal hyperoxia test may be of predictive value in determining which patients may develop PPHN. The fact that both CHD and PPHN are increased in fetuses with abdominal wall defects may be of value in counseling parents prenatally, and stresses the importance of performing echocardiography both prenatally and postnatally in these cases.     

胎儿先天性矫正型大动脉转位的产前超声心动图诊断

目的探讨并总结胎儿先天性矫正型大动脉转位（cc-TGA）产前超声心动图图像特征。 方法回顾分析2011年1月至2017年12月黑龙江省哈尔滨市红十字中心医院行产前超声心动图诊断,并经引产后病理解剖或产后小儿超声心动图确诊的5例cc-TGA胎儿超声心动图影像,总结其超声心动图特征、诊断及鉴别诊断方法。 结果5例cc-TGA胎儿中,4例引产后病理解剖证实为cc-TGA SLL型;1例活产后经小儿超声心动图证实为cc-TGA IDD型,小儿产后90 d状态良好。5例cc-TGA胎儿中2例行胎儿染色体检查,染色体核型正常。5例cc-TGA胎儿产前超声心动图四腔心切面与上腹部横切面联合应用、左右心室流出道切面、主动脉弓与动脉导管弓切面、三血管切面、三血管气管切面具有特征性表现。产前超声心动图显示5例cc-TGA胎儿合并多种心内外畸形：4例SLL型胎儿中3例合并室间隔缺损,2例合并肺动脉闭锁,1例合并肺动脉狭窄,2例合并永存左上腔,2例合并房室瓣返流,1例合并心内膜垫缺损;1例SLL型胎儿合并心外多发畸形,包括双侧脑积水、脊柱裂、双侧足内翻;1例IDD型胎儿合并心内多发畸形,包括室间隔缺损、肺动脉轻度狭窄、右位主动脉弓,合并心外畸形有腹腔脏器镜像反位。 结论掌握cc-TGA各切面超声心动图特征可以有效发现、诊断本病。胎儿cc-TGA预后差异很大,取决于相关缺陷的严重程度。     

成人心脏超声探头在胎儿先天性心脏病诊断中的应用

目的探讨成人心脏超声探头在胎儿先天性心脏病（简称先心病）诊断中的应用价值。方法分析19例产前超声诊断、产后超声复查和胎儿引产后尸解证实的胎儿先心病病例资料。结果应用成人心脏超声探头探查,诊断胎儿①复杂性先心病14例,占73．6％（14／19）,包括完全性心内膜垫缺损、大动脉转位,单心房、单心室、右室双出口、右室发育不良、瓣膜狭窄或闭锁、永存动脉干及法洛四联症;②单纯室间隔缺损（VSD）4例;③房间隔膨胀瘤并房间隔缺损（ASD）1例。结论成人心脏超声探头可应用于胎儿心脏的检查,能清楚显示心脏和大血管的血流信号,大大提高胎儿先心病的检出率。     

二维超声心动图结合空间-时间关联成像技术对胎儿单纯室间隔缺损定位分型及定量诊断的应用研究

目的 探讨二维超声心动图结合空间-时间关联成像(STIC)技术对胎儿单纯性室间隔缺损超声定位分型及定量诊断的临床应用价值.方法 应用二维超声心动图结合STIC技术,采用目前外科常用的分型方法(膜周型、单纯膜部型、隔瓣下型、嵴下型、嵴内型、干下型、肌部型)对在北京安贞医院经胎儿超声心动图检查诊断的33例单纯性室间隔缺损胎儿进行超声定位分型和定量诊断,并与胎儿产前二维超声心动图及新生儿超声心动图随诊结果进行比较.结果 与33例新生儿超声心动图随诊结果比较,产前二维超声心动图与STIC技术联合检出的30例(膜周型10例,单纯膜部型3例,隔瓣下型3例,肌部型14例)单纯性室间隔缺损胎儿与产后超声心动图随诊结果相符合,定位分型诊断符合率为90.9%(30/33);漏诊1例膜周部小室间隔缺损,漏诊率为3.0%(1/33);误诊2例(6.1%,2/33),产前胎儿超声心动图诊断单纯性室间隔缺损而新生儿复查超声心动图未见异常.产前超声心动图定量诊断胎儿限制性室间隔缺损 1例(1/33),非限制性室间隔缺损 32例(32/33),与产后随诊结果完全符合.结论 应用二维超声心动图联合STIC技术和合理的超声切面可准确、直观、清晰显示胎儿室间隔缺损部位,产前行胎儿室间隔缺损超声定位分型和定量诊断可为胎儿出生后选择手术时机和手术方式提供重要参考依据.     

咸阳市围生期先天性心脏病发生情况及干预措施

目的探讨围生期先天性心脏病(congenital heart disease,CHD)的发生情况,为制定干预措施提供依据。方法选取2011年1月—2013年12月咸阳市两家市级医院引产或分娩的24 757例围生儿CHD筛查情况进行分析。结果共筛查出CHD 496例。围生期CHD发生率及超声心动图检查率呈逐年上升趋势。CHD分类前3位依次为动脉导管未闭(42.94%)、室间隔缺损(20.36%)、房间隔缺损(14.52%);复合CHD共104例(20.97%),以房间隔缺损合并室间隔缺损(4.64%)及法洛四联症(2.42%)居多,其中复杂CHD 57例(11.49%)。21例还合并其他先天畸形。随孕母年龄的增加,围生期CHD的发生率呈上升趋势,尤其孕母年龄20岁及≥35岁CHD的发生率最高。结论加强围生期CHD监测并制定干预措施,对提高出生人口素质具有重要意义。     

经腹部超声心动图在孕早期胎儿先天性心脏病诊断中的应用价值

目的探讨经腹部超声心动图在孕早期胎儿先天性心脏病（CHD）诊断中的应用价值。 方法对2012年6月至2015年4月在南京军区福州总医院产前检查的1 288例高危孕妇孕早期（孕13周）胎儿行超声心动图检查,分析孕早期胎儿CHD超声表现及其特征,追踪所有入选孕妇的妊娠过程及胎儿临床结局。 结果经腹部超声心动图在1288例胎儿中诊断CHD 16例（1.2%,16/1288）,其中复杂型CHD 11例,单纯型CHD 5例。孕早期胎儿CHD超声心动图表现：（1）法洛四联症2例,超声心动图显示主动脉轻度增宽,未见明显骑跨,室间隔缺损,肺动脉狭窄,远端显示不清。（2）左心发育不良综合征2例,孕13周超声心动图显示左心明显缩小,右心扩大,二尖瓣闭锁,室间隔缺损,主动脉轻度狭窄伴血流速度加快,肺动脉增宽。（3）大动脉共干I型2例,超声心动图显示心底部仅见1条大血管,未见明显分支血管,并见室间隔缺损。（4）完全型房室间隔缺损4例,超声心动图显示心内膜正常十字交叉结构消失,房室共瓣。（5）单心室1例,超声心动图未见室间隔回声,仅见一单心室。（6）主动脉缩窄1例,孕13周超声心动图显示心内结构正常,主动脉内径正常;孕16周超声心动图显示左心偏小,主动脉峡部轻度狭窄。（7）室间隔缺损4例,超声心动图显示室间隔连续中断,断端边缘回声增强。1例小的室间隔缺损误诊,漏诊室间隔缺损和永存左上腔静脉各1例。超声诊断CHD后孕妇选择终止妊娠11例,出生5例,随访结果与产前诊断均相符。 结论经腹部超声心动图可早期诊断多数胎儿CHD,尤其表现为四腔心异常的CHD,但对CHD异常大血管起源、分支及走向的显示存在一定困难,有待中孕期进一步确诊,早孕期经腹部超声心动图检查有重要临床应用价值。     

Absent or hypoplastic thymus on ultrasound: a marker for deletion 22q11.2 in fetal cardiac defects.

OBJECTIVE: Congenital heart defects (CHD), particularly conotruncal anomalies, may be associated with deletion of chromosome 22q11.2. Thymic aplasia or hypoplasia is known to be a typical feature in this condition. We aimed to establish (i) the prevalence of del22q11.2 in fetal CHD and (ii) whether ultrasound assessment of an absent or hypoplastic fetal thymus helps in preselection of a group who are at high risk for this deletion. STUDY DESIGN: In fetuses (> 16 weeks) with CHD, karyotyping and fluorescence in situ hybridization for 22q11.2 were offered and the fetal thymus was evaluated sonographically. RESULTS: One hundred and forty-nine fetuses with CHD and normal karyotype were analyzed. Seventy-six fetuses had conotruncal anomalies. 22q11.2 deletion was present in 10 cases (6.7%), all of which had conotruncal anomalies (13.1%). Thymic hypoplasia or absence was suspected in 11 cases with conotruncal anomaly. Nine of these 11 had the deletion; two cases were false positive. One fetus with a normal-sized thymus had deletion of 22q11.2 (sensitivity 90%, specificity 98.5%, positive predictive value 81.8%, and negative predictive value 99.2%). By subtype of cardiac anomaly, there was deletion in four of six fetuses with interruption of the aortic arch, two of four with absent pulmonary valve syndrome, three of nine with truncus arteriosus and one of 11 cases of tetralogy of Fallot. Pulmonary atresia with ventricular septal defect (n = 7), right-sided aortic arch (n = 4), transposition of the great arteries (n = 14), double outlet right ventricle (n = 13) and other complex malpositions of the great vessels (n = 8) were not associated with the deletion. CONCLUSION: Thymic hypoplasia or aplasia may reliably be diagnosed during fetal echocardiography. The technique allows identification of a group at high risk for 22q11.2 deletion and is more specific and sensitive than by subtype of cardiac anomaly alone.     

Fetal echocardiography: Present and future applications

Fetal heart motion was observed by T-M-mode echocardiography from the twelfth to fortieth week of gestation in 47 apparently normal pregnancies. In the earliest case (at 12 weeks), cardiac pulsations were recorded in a fetus in which the heart sounds couldnot be detected by Doppler ultrasound. The left and right ventricular dimensionsand left-to-right ventricular ratios were determined in 24 of the 35 fetuses in which high-quality images were obtained. Interventricular septal motion was evaluated in 30 of these 35 fetuses. Potential clinical applications of echocardiography in evaluating fetal status are also presented.     

超声在产前诊断胎儿肺动脉闭锁中的应用价值

目的探讨产前超声诊断胎儿肺动脉闭锁的临床价值.方法回顾分析7例经解剖证实的肺动脉闭锁胎儿的超声心动图资料,总结其异常声像图特点.结果7例在二维超声心动图各切面观中仅1例显示主肺动脉显著窄于主动脉,6例未显示主肺动脉;5例显示室间隔缺损伴主动脉骑跨,2例室间隔完整者均合并右室发育不良;彩色多普勒血流显像示5例动脉导管反向血流,3例显示三尖瓣反流.产前超声诊断胎儿肺动脉闭锁5例,诊断右心发育不良1例,误诊永存动脉干1例.结论产前超声检出动脉导管反向血流是诊断胎儿肺动脉闭锁的重要依据,具有重要的临床意义.     

Fetal echocardiography: a large clinical experience and follow-up

We reviewed our experience with 382 fetal echocardiograms. Complete studies were not possible for three pregnancies because of either fetal position or maternal obesity. Studies were performed for fetal arrhythmia (28%), maternal factors (21%), fetal anomaly (11%) and family history of congenital heart disease (40%). There was a recurrence of heart disease in two of 153 patients (1.3%). Arrhythmia was the most common finding (82 of 382 patients). Premature atrial and ventricular contractions were the most common arrhythmia, and structural defects were present in four of 58 patients (6.8%) with premature contractions. Fetal heart defects (n = 44) were identified in 40 of 382 (10%) referrals. The defects were complete atrioventricular block (13), ventricular septal defect (4), atrioventricular canal (5), cardiac mass (3), ectopia cordis (2), thoracopagus (2), hypoplastic left ventricle (2), hypoplastic right ventricle (2), atrial flutter (2), pulmonic stenosis (1), single ventricle (2), Uhl's anomaly (1), Ebstein's anomaly (1), mitral atresia (1), d-transposition of the great vessels (1), tetralogy of Fallot with absent pulmonary valve (1), and atrial septal defect and ventricular septal defect (1). There were three false positive (99% specificity) and two false negative (95% sensitivity) fetal echocardiograms. The survival rates for referred patients with heart defects was: live born and perinatal survivor, 54%; perinatal death, 31%; still birth, 11%; and termination of pregnancy, 4%. Fetal echocardiography is accurate, and the abnormalities detected appear to be more severe than those detected on newborn screening.     

Diagnosis and follow-up of congenital heart disease in children with the use of two-dimensional Doppler echocardiography

Two-dimensional echocardiography (2D) represents a major advance in non-invasive diagnosis of congenital heart disease (CHD) in children. Nevertheless it has diagnostic limitations in nearly all kinds of heart lesions. These can be overcome for the most part by integration of a pulsed Doppler system. This may be called two-dimensional Doppler echocardiography (2DD). Hereby blood flow information is added to the 2D image. Some common types of CHD including ventricular and atrial septal defects, persistent ductus arteriosus, pulmonic stenosis and coarctation are described with their typical 2DD findings. Non-invasive follow up of children with CHD and early recognition of typical complications can be achieved reliably using 2DD. Future prospects consist in a more quantitative diagnostic application of 2DD.     

不同切面超声心动图诊断胎儿心脏畸形的临床研究

目的探讨不同切面超声心动图诊断胎儿心脏畸形的价值。方法对1341例孕妇行胎儿超声心动图检查,采用二维、彩色及频谱多普勒从常规取胎儿四腔心、五腔心、左心室流出道及右心室流出道长轴、大动脉短轴、主动脉弓及动脉导管弓长轴等切面观察胎儿心脏解剖结构及血流状况。并与引产后的尸检结果进行对照。结果本组共检出胎儿先天性心脏畸形30例,经引产后胎儿尸体解剖和产后新生儿随访证实与产前完全相符合28例,占93．33％（28／30）,有2例复杂性畸形与产前诊断基本相符合,占6．67％（2／30）。在出生后的新生儿中发现2例室间隔缺损,1例房间隔缺损漏诊,漏诊率为9．09％（3／33）。畸形类型包括室间隔缺损3例,房间隔膨胀瘤3例,心内膜垫缺损1例,单心室4例,大动脉转位2例,右室双出口2例,永存动脉干2例,左心室发育不良3例,右心室发育不良2例,三尖瓣闭锁2例,三尖瓣下移畸形2例,肺动脉闭锁1例,严重心律失常3例。产前超声诊断符合率为90．91％（30／33）。结论不同切面超声心动图可用于产前胎儿心脏畸形的诊断。     

双腔右心室的超声特征及鉴别诊断

本文报道经手术证实的28例双腔右心室超声结果。诊断符合率64.3％(18/28),漏诊,误诊为室间隔缺损7例,法乐氏四联症3例。双腔右心室合并畸形以室间隔缺损多见。文中讨论分析了超声特征、漏诊、误诊原因及鉴别诊断。