Atrial and ventricular septal defects – epidemiology and spontaneous closure

Objective.?To present data on the epidemiology and spontaneous closure for septal defects (secundum atrial septal defect (ASD) and/or ventricular septal defect (VSD)).

Methods.?Data from the EUROCAT Registry of Congenital Malformations for Funen County, Denmark were analyzed. All infants born from 1986 to 1998, diagnosed with a secundum ASD and/or a VSD as the only cardiac malformation, were included.

Results.?There were 78 infants with an ASD, 195 with a VSD, and 19 had both an ASD and a VSD. The overall prevalence of septal defects was 4.1 per 1000 livebirths. Among the VSDs 45% were perimembranous and 55% were muscular defects. Associated non-cardiac malformations, syndromes, or karyotype anomalies were present in 54 cases (19% of total) but with a significantly lower proportion among cases with muscular VSDs (7%, p < 0.05). Eighty-one percent of the cases had an isolated cardiac malformation. Five of 61 cases (8%) with isolated ASD were closed surgically before five years of age and 43 (70%) closed spontaneously within the first five years of life. Of the 65 cases with isolated perimembranous VSDs, 13 were closed surgically (20%) and 13 closed spontaneously (20%). Of the 99 cases with isolated muscular VSDs no defects were closed by surgery and 64 (65%) closed spontaneously. The rate of spontaneous closure for perimembranous and muscular VSDs were significantly different (p < 0.0001).

Conclusions.?Secundum ASD has a high rate of spontaneous closure. Perimembranous and muscular VSDs seem to be two different diseases with different epidemiology and natural history.     

Spontaneous closure of ventricular septal defects in the first year of life.

BACKGROUND AND PURPOSE: The recent increase in the prevalence of ventricular septal defect (VSD) has been ascribed to the improved detection of small defects with echocardiography and the wider use of screening. The aim of this study was to determine the prevalence and timing of spontaneous closure of specific types of VSD in neonates using echocardiographic screening and follow-up. METHODS: Two-dimensional color Doppler echocardiography was performed in 3,472 clinically normal full-term neonates born at Cathay General Hospital to detect isolated VSD. The relative prevalence of muscular versus perimembranous defects and their outcome in the first year of life were evaluated. RESULTS: VSD was found in 74 neonates (34 male, 40 female), resulting in a prevalence of 21.3/1,000 live births. There were 48 muscular, 25 perimembranous, and one subpulmonic defects. Of the 74 patients, 11 were lost to follow-up. Within the observation period of 12 months, spontaneous closure occurred in 40 patients in the muscular group and in six patients in the perimembranous group. The overall rate of spontaneous closure was 73% by the end of the first year. Only five patients with perimembranous defects received digoxin therapy. CONCLUSIONS: The prevalence of VSD in this series of neonates was 21.3/1,000 live births. The most common location of VSD in the neonatal period was in the region of the muscular septum. Muscular defects were more likely to close spontaneously than perimembranous defects. Most muscular defects underwent spontaneous closure during the 12-month follow-up period.     

彩色多普勒超声心动图在房间隔缺损和室间隔缺损介入治疗中的应用

目的探讨经胸超声心动图(TTE)及实时三维超声心动图在房间隔缺损(ASD)、室间隔缺损(VSD)封堵术中的临床应用价值。 方法应用二维及三维超声心动图对2004 10—2005 10在天津市儿童医院就诊的24例继发孔ASD，10例VSD进行术前检查筛选，术中超声引导及术后随访检查。 结果24例ASD患儿术前经TTE检测ASD直径(15.6±7.9)mm(5~26mm)，所选Mmplatzer封堵器直径为(19.1±5.1)mm(5~32mm)，23例封堵成功。室间隔膜部缺损直径：左室面缺损为5~9mm，右室侧口的直径为2.4~6.0mm，术中选择Amplatzer封堵器型号为4~6mm，10例VSD无残余分流。 结论二维及三维TTE联合应用于ASD、VSD介入治疗具有很好的应用价值。     

Surgical repair of ventricular septal defect without ventriculotomy in the first 12 months of life.

Sixty-eight infants with clinical evidence of a large ventricular septal defect (VSD), refractory to conventional medical treatment, underwent surgical closure within the first 12 months of life from August 1987 to June 1991. There were 43 males and 25 females. The ages of the patients ranged from two to 12 months, with a mean age of 6.6 months. The mean body weight of the patients was 5.4 kg (range, 2.3-10 kg). Surgery was performed because of intractable heart failure in 27 infants (39.7%), failure to thrive in 40 (58.8%), repeated pneumonia in 43 (63.2%) and prolonged endotracheal intubation in nine (13.2%). There were 21 patients with a supracristal VSD (30.9%) and 47 patients with perimembranous VSD (69.1%). Nine patients (13.2%) had preoperative cardiac catheterization. Transatrial repair of perimembranous VSDs and transpulmonary repair of supracristal VSDs was used exclusively without ventriculotomy. Surgically induced heart blocks did not occur in any of the patients. Only two patients (2.9%) died during the early postoperative period. Diagnosis in most cases was confirmed by the present advanced integrated color Doppler echocardiographic technology which is widely used by pediatric cardiologists. There was no need to perform cardiac catheterization in most patients with VSDs. The morbidity and mortality were very low. We strongly suggest that for infants with a large VSD, primary repair should be the procedure of choice.     

The atrioventricular conduction axis of hearts with isolated ventricular septal defects

We studied the surgical anatomy of 14 hearts with isolated ventricular septal defects and the precise relationship of the atrioventricular conduction axis to their rims. Ten of these hearts were investigated by serial sectioning of their atrioventricular conduction systems. All defects were divided into perimembranous or muscular types as previously suggested by Soto et al. The distinguishing feature of the perimembranous defect was that the central fibrous body formed part of its rim, this fact indicated that the conduction tissue was always to the right of the surgeon's hand when the defect was approached through the right atrium. The precise relationship of the ventricular conduction tissues varied depending upon whether the perimembranous defect extended into the inlet, trabecular or outlet components of the muscular septum. The nonbranching bundle was closest to the septal rim in the inlet and trabecular defects, frequently being buried in a remnant of the interventricular membranous septum. However, in these defects the nonbranching and branching bundles were also found in other specimens remote from the septal crest, yet were carried on the left ventricular aspect of the septum. In perimembranous inlet defects, the penetrating bundle detoured deep into the central fibrous body. In perimembranous outlet defects, the conduction tissues were remote from the septal crest. In contrast to these findings, the conduction tissues were away from the edges of the defects in trabecular and outlet muscular defects. In conclusion, in the perimembranous inlet defect, the placement of the sutures on the annulus of tricuspid valve should be avoided in view of its abnormal long penetrating bundle.     

唇腭裂患儿中先天性心脏病的发生率及其特点

目的探讨唇腭裂患儿中先天性心脏病(简称先心病)的发生率及其特点。 方法广州市儿童医院口腔科2004-01—2005-05共收治567例拟行唇腭裂修复术的患儿，将患儿分成单纯唇裂组、单纯腭裂组及唇裂合并腭裂组3组，对3组患儿均行彩色多普勒超声心动图检查，对检查结果进行统计学分析。 结果567例唇腭裂患儿中共检出先天性心脏病37例，总发生率为653%，主要的先心病为：房间隔缺损(ASD)、动脉导管未闭(PDA)、室间隔缺损(VSD)；其中单纯唇裂组和单纯腭裂组患儿先心病发生率分别为508%、1056%，唇裂合并腭裂组患儿先心病发生率为521%。运用Pearson卡方检验进行统计学分析，3组患儿的先心病发生率差异无显著性。 结论先心病在唇腭裂患儿中发生率较高，彩色多普勒超声心动图检查能清楚准确地诊断各类型的先天性心脏病，可用于唇腭裂修复术前的常规检查。     

第二代动脉导管未闭封堵器封堵 特殊类型室间隔缺损2例报告

目的　总结分析应用第二代动脉导管未闭封堵器（ADO-Ⅱ）对特殊类型室间隔缺损（VSD）封堵的技巧。方法　研究对象为2011年8月至9月在上海交通大学医学院附属上海儿童医学中心行介入治疗的患儿2例,因应用常规VSD封堵器封堵困难,遂选取ADO-Ⅱ进行治疗。常规建立动静脉轨迹后,采用主动脉内释放,然后行左室、升主动脉造影和心脏超声检查,如封堵器位置好,无残余分流、瓣膜反流则释放。结果　例1左室造影显示为膜周VSD,左室面7.6 mm,较大假性室隔瘤形成,右室分流口弥散,最大约2.3 mm,缺损上缘距主动脉为6.1 mm。导丝建轨后,7 F长鞘无法通过分流口,最后选用5F长鞘,“6 mm×4 mm”的ADO-Ⅱ封堵成功,术后心脏超声三尖瓣轻微分流。例2心室造影为肌部VSD,左室面6.3 mm,右室分流口为2 mm,上缘距主动脉16 mm。因VSD走行异常且分流口小,最终选冠脉导丝建轨成功,应用4 F长鞘,“4 mm×4 mm”ADO-Ⅱ封堵成功。2例患儿术后1d复查心脏超声和心电图,无异常,观察5 d后出院随访,并口服阿司匹林［3～5 mg/（kg·d）］。结论　对于一些形态较特殊的VSD,常规VSD封堵器无法成功封堵时,可选择ADO-Ⅱ进行封堵,手术操作简单、安全、可靠而并发症少。     

小儿经皮室间隔缺损封堵术后非阵发性 室性心动过速临床意义分析

目的　总结小儿经皮室间隔缺损（VSD）封堵术后非阵发性室性心动过速（AIVR）的发生情况,探讨其临床意义及可能的发生机制。方法　2002年10月至2011年5月,1179例VSD患儿在广东省心血管病研究所心儿科行经皮VSD封堵术（室缺封堵组）,术后检出AIVR 17例。在我院门诊进行动态心电图检查的1392例非介入治疗患儿（非介入组）以及在我院行房间隔缺损封堵术的患儿988例（房缺封堵组）作为对照。比较室缺封堵组与对照组间AIVR的检出情况。对室缺封堵组9例患儿进行治疗,并对17例患儿进行随访。结果　室缺封堵组术后动态心电图AIVR检出率高于非介入组,差异有统计学意义（P < 0.05）;次日常规心电图AIVR检出率高于房缺封堵组（P < 0.05）。室缺封堵组所有AIVR患儿封堵术后1个月动态心电图均无AIVR,随访中无不良事件发生,随访心电图无AIVR。结论　室缺封堵组封堵术后AIVR检出率高于对照组,其发生与VSD封堵有关。该病多无自觉症状,预后良好,可能无须治疗。     

Characteristics of 11 neonates with atrial septal defects detected by heart murmurs

The aim of this prospective study was to investigate, using echocardiography, the relationship between heart murmurs found in the neonatal period and atrial septal defect (ASD). Heart murmurs were detected in 115 of 5124 term neonates within 1 month after birth. The babies were followed by echocardiographic examination with attention to the atrial septal area. Heart murmurs of 11 term neonates (9.6%) were associated with interatrial shunts consistent with ASD. The defect closed spontaneously in 7 out of the 11 neonates by 18 months of age. Two neonates showed evidence of right ventricular overload from early infancy. This study showed that nearly 1 neonate in 10 with a heart murmur up to 1 month after birth had an interatrial shunt associated with ASD. We concluded that the absence of a flap sign (valve-like openings of the defects) affects the development of the heart murmur of ASD found in the neonatal period.     

Amplatzer septal occluder-induced transient complete atrioventricular block.

Percutaneous transcatheter atrial septal defect (ASD) closure is a widely used technique that has replaced open-heart surgical closure in many centers. The most common implant is the Amplatzer septal occluder which seems to be a highly effective and safe device. However, there are reports of complications associated with its implantation. We report a 9-year-old boy who presented with complete atrioventricular block after undergoing percutaneous closure of a large secundum ASD with an Amplatzer septal occluder. We treated the patient with oral prednisolone. The patients atrioventricular conduction improved to second-degree Mobitz type 1 block on post-procedure day 24 and first-degree block on day 35. We conclude that patients with Amplatzer septal occluder-induced complete atrioventricular block generally have a good outcome, although it may take several weeks for improvement.     

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。     

Maternal heart disease. A survey of a decade in a Danish university hospital

Among 87 pregnancies complicated by heart disease, delivered during the decade 1977-86, 70 (81%) had a congenital heart malformation, 7 (8%) an acquired heart disease and 10 (11%) arrhythmias or conduction disturbances. The incidence was 0.3%. The corresponding data from a report from Rigshospitalet during the 1950s were: 42%, 49%, and 9%, respectively, and an incidence of 0.9%. Ventricular septal defect (VSD) and atrial septal defect (ASD) were the most frequent malformations. The women were classified according to the NYHA before, during and after the pregnancy. All women except 4 re-entered their original functional class. In 51 cases, ECG showed completely normal sinus rhythm, while in 36, various degrees of arrhythmia or conduction disturbance were found as well as left or right ventricular hypertrophy and/or strains. Nine infants had congenital defects, 4 of which were a heart malformation (4.6%). One infant died. Gestational duration, weight and perinatal mortality did not differ significantly from that of the general population. Two women died, one of primary pulmonary hypertension and one with a rupture of the thoracic aorta. Rheumatic heart disease is no longer a significant factor in relation to pregnancy in Denmark, but congenital heart disease is still of great importance, because more survive and reach the age of fertility. Today most women can be brought safely through pregnancy, but obstetric, cardiologic and anesthesiologic expertise is still mandatory for a successful course and outcome of pregnancies complicated by heart disease.     

经导管室间隔缺损封堵术后传导阻滞的处理及随访

目的随访经导管室间隔缺损(VSD)封堵术后并发的传导阻滞，探讨其发生机制及预后。 方法2002 06—2005 07山东省立医院小儿心脏科经导管介入治疗89例VSD患儿，对临床资料、心电图、心脏超声、心血管造影资料及随访结果进行分析。 结果89例患儿应用Amplatzer膜部VSD封堵器67例，国产对称型VSD封堵器20例，Amplatzer导管封堵器1例，pfm弹簧圈1例。术后出现间歇性完全性房室传导阻滞2例次，其中1例应用临时起搏器治疗，分别于术后第10天、第20天恢复窦性心律；完全性左束支阻滞3例次，完全性右束支阻滞3例次，左前半分支阻滞2例次，不完全性右束支阻滞5例次，加速性交界性心律合并完全性左束支阻滞1例次。 结论传导阻滞是VSD介入治疗术后的常见并发症，经治疗预后良好，及时发现、及时处理是诊疗的关键，对心内传导系统远期的影响仍需进一步评价。     

经胸超声心动图在继发孔型房间隔缺损介入治疗中的作用

目的研究经胸超声心动图(TTE)在继发孔型房间隔缺损(ASD)介入治疗的病例筛选及封堵器选择方面的应用价值。 方法回顾分析2002-03—2006-03于山东大学山东省立医院小儿心脏科行介入治疗的54例继发孔型ASD患儿，统计其术前TTE所测的ASD的形态、大 小、边缘情况等，对术前TTE测得的ASD最大径、X线测得的球囊腰径及TTE测得的球囊径分别与所用封堵器型号大小进行统计学分析比较，并进 行TTE测得的ASD最大径与封堵器型号大小的相关性分析，计算回归方程。 结果54例均成功封堵，手术时间20~145(57.64±24.89)min，曝光时间3.1~31.5(9.22±7.41)min，住院天数3~10(5.74±1.72)d。其中有15例患 儿存在ASD单一边缘不够标准，均封堵成功。术前TTE测得的ASD最大径［4~33mm,(16.31±7.34)mm］、术中X线测球囊腰径［6.7~28mm,(19.80± 7.24)mm］及TTE测球囊径［9.6~24.8mm,(19.92±6.38)mm］与封堵器大小［5~36mm,(18.85±7.89)mm］差异均无显著性意义(P>0.05)。且术前 TTE测得的ASD最大径与封堵器型号有良好的线性相关(r=0.945，P<0.05)，计算回归方程为：封堵器型号=1.015×(TTE测得的ASD最大径)+2.3mm 。 结论TTE的应用，使ASD介入治疗病例的筛选得到了保证。作为一种无创性影像学诊断方法，对ASD封堵器选择的评估有重要的应用价值。     

经导管膜周部室间隔缺损封堵术并发三尖瓣损伤8例临床分析

摘要：目的　分析经导管膜周部室间隔缺损（PMVSDs）封堵术并发三尖瓣损伤原因，探讨其预防及处理措施。 方法　2002年10月至2009年12月广东省心血管病研究所825例PMVSDs患儿，均进行了经导管介入封堵，其中8例出现三尖瓣损伤。8例患儿中男4例，女4例；年龄3.5～8.0岁。8例三尖瓣损伤患儿中4例出现三尖瓣狭窄，其中2例严重狭窄者行外科手术治疗，术中见封堵器右室盘与三尖瓣腱索缠绕，予松开缠绕、取出封堵器并修补室间隔缺损；2例轻度狭窄者予随诊观察。8例中其余4例出现三尖瓣关闭不全，其中3例反流严重予外科手术治疗，术中见三尖瓣腱索断裂1例，腱索断裂并瓣膜撕裂1例，三尖瓣隔瓣腱索被封堵器牵拉1例。术中将断裂的腱索缝合，取出封堵器并修补室缺，合并三尖瓣撕裂者行三尖瓣整形。余1例三尖瓣隔瓣脱垂并轻至中度反流的病例予随诊。结果　5例外科手术治疗者中，4例三尖瓣功能恢复良好，1例三尖瓣血流速度稍增快。三尖瓣损伤不重未行外科处理的3例病例随诊1月至2年，三尖瓣病变无加重，患儿无明显临床症状。结论　经导管PMVSDS封堵术并发三尖瓣损伤有多方面原因。操作中应避免轨道钢丝穿过三尖瓣腱索，出现腱索与封堵器或输送钢缆缠绕时切勿使用暴力牵拉。三尖瓣损伤严重时应外科手术治疗。     

The genetic and clinical outcome of isolated fetal muscular ventricular septal defect (VSD)

Introduction: Our objective was to evaluate the incidence of chromosomal aberration (both microscopic and submicroscopic) and the clinical outcome of fetuses with isolated muscular ventricular septal defect (VSD).

Material and methods: The study included 40 pregnant women whose fetuses were diagnosed with isolated muscular ventricular septal defect (mVSD). Of these, 30 patients underwent amniocentesis and 10 declined. All samples were tested by chromosomal microarray analysis (CMA). Of the 40 women in the study, 32 gave birth and the clinical outcome of the children was retrieved from the patients’ medical records.

Results: Of the 30 patients who underwent amniocentesis, one was detected with mosaic Klinefelter syndrome and one was detected with a pathogenic copy number variant unrelated to the VSD. Clinical follow-up was performed on 26 children after birth. The first postnatal echocardiography did not detect a VSD in 13 (50%) of the followed-up children. Spontaneous closure occurred in another eight (30.8%) children during the postnatal follow-up period. In only five children (19.2%) VSD was still detected by echocardiography after the first year of life.

Discussion: Isolated muscular VSD diagnosed prenatally does not appear to be a significant risk factor for chromosomal abnormalities and has a favorable clinical 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.     

Is maternal smoking during pregnancy associated with an increased risk of congenital heart defects among offspring? A systematic review and meta-analysis of observational studies

Objective: To investigate the association between maternal smoking during pregnancy and risk of congenital heart defects (CHDs) among offspring.

Methods: PubMed, EMBASE, and Web of Science were searched for eligible studies. The outcomes of interest included risk of any CHD and nine subtypes. We summarized study characteristics and used a random-effects model in meta-analysis, and a two-stage dose–response model was utilized to assess the association between smoking consumption and risk. Statistical heterogeneity was assessed by a chi-squared test of the Cochrane Q statistic and I-squared value. Publication bias was assessed by funnel plots and Egger’s test, and trim and fill method was utilized when publication bias existed.

Results: Forty-three observational epidemiologic studies were included. The pooled risk ratio (RR) of any CHD was 1.11 (95% CI: 1.04, 1.18), but it exhibited substantial statistical heterogeneity (p?I^2?=^?69.0%). In sensitivity analysis, we observed significant associations for atrial septal defect (ASD) and marginally significant associations for septal defects (SPD). The two-stage dose–response analysis showed evidence to support that higher levels of tobacco smoke was associated with an increased risk of septal defects, particularly for ASD and VSD (ventricular septal defect).

Conclusion: Our study presents evidence to support the cardiovascular teratogenic effect of maternal smoking during pregnancy, and their offspring may suffer from approximately a 10% relative increase in the risk of CHDs on average.     

Prenatal and postnatal cardiologic evaluation of normal twin from acardiac twin pregnancy--case report

The aim of the paper was to describe dynamic changes in 'pump twin's' circulatory system within clinical observation, indication analysis for premature delivery due to cardiovascular findings and long-term postnatal follow up. In echocardiographic examination of 'pump twin' no structural heart defects but functional changes in cardiovascular system have been detected (cardiomegaly, right heart disproportion, tricuspid valve regurgitation). Within 10-week observation polyhydramnios did not increased significantly, no amnioreduction procedures had been performed. Due to single umbilical artery in 'pump twin' a cytogenetic examination had been performed revealing a normal karyotype. When the first signs of abnormal Doppler flows appeared such as increased PI of umbilical artery and DV and cardiomegaly with TR--caesarean section was performed at 33 weeks of gestation. Echocardiography performed in the first day of life findings: right atrium and ventricle enlargement, significant tricuspid valve regurgitation (V max 3 m/s), a prenatally undetected, small perimembrane-part ventricular septal defect. At the age of 6-months a non-significant VSD with tricuspid valve septal leaflet closure and ASD II has been confirmed. The infant is systematically followed-up by paediatricians, cardiologists and neurologists and her further neurodevelopment appears to be slightly retarded.     

115例胎儿心脏畸形的产前诊断分析

目的:探讨胎儿心脏畸形的特点及其与染色体异常的关系。方法:对我院产前超声诊断的115例胎儿心脏畸形进行侵入性产前诊断,分析心内外畸形及染色体异常的类型和比例。结果:115例胎儿中心脏单发畸形74例,多发畸形41例;未合并心外畸形54例,合并心外畸形61例。染色体异常31例,包括21三体15例和18三体11例,右室双出口、室缺、完全型心内膜垫缺损及三尖瓣反流合并染色体异常比例分别占63.6%、44.4%、35.7%及33.3%。心脏单发畸形中24.3%合并染色体异常,心脏多发畸形中31.7%合并染色体异常,两者比较差异无统计学意义(P0.05);未合并心外畸形中14.8%合并染色体异常,合并心外畸形中37.7%合并染色体异常,两者比较差异有统计学意义(P0.05)。结论:胎儿心脏畸形常合并心外畸形及染色体异常,染色体异常以非整倍体为主,其中右室双出口、室缺、完全型心内膜垫缺损及三尖瓣反流合并染色体异常较常见,合并心外畸形时,染色体异常的比例增加。