二维超声四切面法在胎儿先天性心脏病产前筛查中的价值

目的 评价二维超声四切面法,即四腔心切面、左室流出道切面、右室流出道切面和三血管平面在胎儿先天性心脏病(congenital heart disease,CHD)筛查中的价值. 方法 应用二维超声四切面法对孕21～25周的2419例胎儿进行CHD筛查,并对所有2382例活产新生儿行超声心动图检查.统计学分析采用x2检验,并计算敏感性、特异性、阳性预测值和阴性预测值. 结果 2419例胎儿中产前筛查出CHD共281例(11.62％),其中简单型CHD 245例(87.18％)、复杂型CHD 36例(12.82％).高危因素组和非高危因素组阳性率分别为13.60％(34/250)和11.39％(247/2169),差异无统计学意义(x2=1.069,P=0.301).产前四切面法筛查阳性且新生儿期超声心动图检查诊断CHD 36例,总体敏感性、特异性、阳性预测值、阴性预测值分别为12.8％、99.8％、90.0％和89.7％;诊断简单型CHD 7例,敏感性2.9％;复杂型CHD 29例,敏感性80.6％.产后新生儿诊断CHD252例,占活产新生儿总数的10.58％(252/2382),其中简单型241例,复杂型11例. 结论 二维超声产前四切面法对简单型CHD诊断敏感性较低,对复杂型CHD诊断的敏感性较高.在常规产前超声检查中加入心脏四切面法可筛查出大部分的胎儿复杂型CHD,而简单型CHD漏诊率仍较高,新生儿超声心动图普查可弥补产前CHD筛查的不足.     

Prenatal diagnosis of atrioventricular discordance with ventriculoarterial concordance by fetal echocardiography: A case report

ObjectiveTo report an extremely rare case of atrioventricular discordance and ventriculoarterial concordance associated with a ventricular septal defect which was diagnosed prenatally.Case reportBy fetal echocardioraphy at 20 weeks' gestation, we diagnosed a rare case of atrioventricular discordance and ventriculoarterial concordance associated with a ventricular septal defect. This is the first case reported from Vietnam prenatally. We present our management of this pregnancy and the baby's neonatal course. This rare anomaly remains a challenge for the baby's early neonatal course before initial neonatal discharge.ConclusionA combined multidisciplinary and individualized approach for the optimal management of this complicated pregnancy and further neonatal surgical treatment plans for the baby are recommended.     

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。     

产前常规胎儿超声心动图诊断的意义及评价

目的探讨胎儿超声心动图作为产前常规检查方法的价值。方法2002年8月至2003年8月首都医科大学附属北京朝阳医院连续对557例妊娠2028周孕妇行产前胎儿超声心动图检查并追踪围生儿预后。结果胎儿超声心动图检出异常者81例,检出率14·54%。其中先天结构性心脏异常6例(1·08%),非结构性心脏异常75例(13·46%)。以瓣膜关闭不全比例最大,其中轻度关闭不全多属生理范围。结论产前常规胎儿超声心动图检查对提高胎儿结构性心血管异常的检出率有重要作用,但应慎重处理,避免不必要的干预。     

52例先天性心脏病胎儿产前诊断及临床分析

目的通过心脏畸形胎儿产前诊断及临床预后评分评估为先天性心脏病胎儿遗传咨询及临床分析提供更多依据。方法收集2018年4月至2019年10月因胎儿心脏畸形来怀化市妇幼保健院产前诊断中心就诊的52例孕妇临床资料。通过产前诊断获得标本并行染色体核型及CMA检测。结果52例心脏畸形胎儿中染色体核型异常为13.46%(7/52),核型正常的胎儿中有5例检出拷贝数变异(copy number variation,CNV),检出率为9.6%(5/52)。40例染色体核型及微阵列分析均正常的胎儿中,按出生缺陷临床预后评分体系评分。其中0分Ⅰ级正常变异9例,均继续妊娠;1~3分Ⅱ级者共17例,继续妊娠16例;4~6分Ⅲ级者共11例,继续妊娠3例;7~9分Ⅳ级者3例,均引产。40例中继续妊娠28例。结论胎儿先天性心脏病与遗传因素相关,需行产前诊断,排除遗传因素后行临床预后评分评估,对临床分析及围产期管理,改善胎儿预后,提高我国出生人口质量起到重要的作用。     

Scan the fetal heart by real-time three-dimensional echocardiography with live xPlane imaging

Objective.?To describe the methodology of live xPlane imaging in the visualization of the fetal heart in detail.

Methods.?Fifty-one consecutive pregnant women with singleton pregnancies were imaged to display four screening sections of the fetal heart, the four-chamber view, the left outflow tract view (LVOT), the right outflow tract view (RVOT), and the three-vessel and trachea view (3VT), using live xPlane imaging. The methodology of how to visualize the screening planes was described in detail. We used two methods to image the fetal heart with live xPlane imaging: one uses the four-chamber view as the starting plane and the other uses the longitudinal view of fetal upper thorax as the starting plane.

Results.?When using the four-chamber view as the starting plane, the visualization rate of LVOT, RVOT, and 3VT was 94.1% (48/51), 100% (51/51), and 98.0% (50/51), respectively. When using the longitudinal view as the starting plane, the visualization rate of four-chamber view, LVOT, RVOT, and 3VT was 100% (51/51), 100% (51/51), 41.2% (21/51), and 100% (51/51), respectively.

Conclusions.?Live xPlane imaging can be used to visualize the screening views of the fetal heart, and potentially may be a useful tool for the assessment and diagnosis of fetal congenital heart diseases.     

Successful prenatal treatment of congenital heart block with ritodrine administered transplacentally

Congenital heart block (CHB) is rather rare, and a poorer prognosis has been documented in fetuses with a ventricular rate <55 beats per minutes (bpm), in which therapeutic interventions during pregnancy have been warranted. We present a case of CHB associated with maternal anti-SSA/Ro antibody, diagnosed at 28 weeks’ gestation. Fetal echocardiography revealed atrioventricular dissociation, with an atrial rate of 170 bpm and a ventricular rate of 54 bpm. To increase the fetal heart rate, maternal intravenous ritodrine infusion was undertaken, fetal ventricular rate was rapidly increased to 65 bpm. The pregnancy successfully continued until term, and a female infant weighing 2919 g was delivered by cesarean section with Apgar scores of 8 and 8 and 1 and 5 min. The infant is now 12 months of age and growing normally on oral terbutaline without pacing. In a case of fetal heart block, maternal administration of ritodrine may be a therapeutic intervention to improve the fetal and neonatal prognosis. Received: 27 May 2001 / Accepted: 20 August 2001 Correspondence to H. Matsushita     

心脏轴测定在胎儿先天性心脏病产前超声诊断中的临床意义

目的探讨超声心动图测定心脏轴变化在胎儿先天性心脏病（先心病）产前诊断中的临床意义。方法应用Ａｃｕｓｏｎ１２８×Ｐ／１０彩色多普勒超声诊断仪检查５１８例胎龄１８～４０周的先心病高危胎儿和９０例正常胎儿,在心脏超声四腔观基础上测定胎儿心脏轴,并从多切面观察胎儿心内结构,以确定胎儿有无先心病。结果正常胎儿心脏轴为（４４．８±１０．３）度,先心病胎儿心脏轴为（５８．１±１５．７）度,两者比较,差异有显著性（Ｐ＜０．０１）。单纯四腔观检测胎儿先心病的敏感性为６８．５％,应用心脏超声四腔观加心脏轴测定检测胎儿先心病的敏感性为９１．４％,两者比较,差异有显著性（Ｐ＜０．０５）;５１８例先心病高危胎儿中,产前超声正确诊断先心病３４例,假阳性１例,假阴性１例。结论正常胎儿心脏轴范围２０～７５度,如心脏轴＞７５度,应高度怀疑胎儿先心病;心脏轴测定在胎儿先心病筛查中具有重要作用,可作为一种常规测量指标。     

Cerebral blood flow autoregulation and congenital heart disease: possible causes of abnormal prenatal neurologic development

Objective. To determine whether the major congenital heart diseases (CHDs) can modify the cerebrovascular flow dynamics and the biometrical parameters in fetuses at third trimester of pregnancy.

Methods. We studied 60 fetuses with CHD. Data included prenatal versus postnatal cardiac diagnosis, cerebral and umbilical artery doppler, fetal biometrical parameters, fetal weight, and gestational age. The pulsatility index (PI) was used to determine blood flow velocities in the umbilical artery (UA) and middle cerebral artery (MCA), while the cerebro/placental ratio (CPR) was assessed as a measure of cerebral autoregulation. Fetuses with CHD were compared to normal controls and then analyzed after being divided into groups based on specific defects.

Results. Compared with control fetuses, those with CHD showed a decrease of resistance blood flow in the middle cerebral artery (1.76 vs 1.92 PI) especially considering the CPR (1.66 vs 2.03 PI) (p < 0.01). Furthermore, fetuses with CHD also had smaller head circumferences (30.6 cm vs 31.5 cm p??< 0.01) and head/abdominal (HC/AC) ratio (1 vs 1.05 p < 0.01). When stratified for single cardiac diseases, fetuses with hypoplasic left heart syndrome showed a lower CPR and HC/AC ratio.

Conclusions. Cerebrovascular resistance is significantly lower in fetuses with CHD, especially in cases of left side obstruction. The cerebro/placental hemodynamic changes are similar to that described in fetuses with placental insufficiency and may contribute to their abnormal neurologic development.     

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。     

家系分析在产前筛查诊断中的价值

家系分析有助于临床医生了解疾病的传递方式、分析检测结果,进而为家系其他成员提供检测建议。目前遗传学检测技术不断进步并应用于临床,可能发现大量“阳性”结果,更需要重视家系分析在致病性判断中的价值。     

胎儿复杂性先天性心脏病产前与出生后诊断处理的价值及预后比较

目的:比较分析胎儿复杂性先天性心脏病(CHD)产前诊断与出生后诊断处理的价值及预后情况。方法:回顾性分析在我院产检诊断为胎儿复杂性CHD,经产前咨询保留胎儿,并在本院分娩,出生后转NICU进一步诊治(产前诊断组)与院外分娩后诊断为复杂性CHD,出生后72小时内转我院NICU诊治(产后转诊组)患儿的分娩结局及预后,并进行比较。结果:产前诊断组共106例,产后转诊组共129例。产前诊断组经产前咨询,30例家属放弃胎儿并引产,76例保留胎儿并在我院分娩。两组分娩孕周、出生体重、早产率和分娩方式比较,差异无统计学意义(P0.05)。两组出生后放弃治疗(6例vs 31例)、小儿心脏外科评估认为无需手术治疗及可随诊(30例vs 14例)、心脏手术后并发症(20例vs 56例)间比较,差异有统计学意义(P0.05);手术后死亡、呼吸机脱机时间和手术后住院天数间比较,差异无统计学意义(P0.05)。结论:产前明确胎儿复杂性CHD的诊断,可减少患儿心脏手术后并发症,改善预后。并且可避免一些无治疗价值的复杂性先天性心脏病新生儿的出生。     

The safety of postnatal transport of newborns prenatally diagnosed with duct-dependent congenital heart disease

Objective: Critical congenital heart disease is increasingly recognized prenatally. Following the diagnosis, families are advised to deliver in a facility where neonatal cardiac interventions are available. We studied the safety of transport of neonates who had been prenatally diagnosed with duct-dependent congenital heart lesions.

Methods: We performed a retrospective chart review of all fetuses diagnosed with duct-dependent congenital heart disease in our fetal program between 2007 and 2011. Demographic data, dose of prostaglandin infusion, respiratory status, blood gas data, as well as complications of the transport were collected.

Results: Twenty-nine neonates qualified for inclusion in the study. Ten were intubated (7 electively) prior to the transport. One of these required intervention for desaturation during the transport. One of the 19 unintubated patients required emergent intubation during the transport. Thus, the overall rate of incidents was 6.9%. All 4 patients who developed apnea requiring intubation did so within 1?h of starting prostaglandin.

Conclusions: Elective postnatal transport of neonates prenatally diagnosed with duct-dependent congenital heart lesions is safe. Prophylactic intubation of these infants may not be necessary. It would be advantageous to schedule the elective transport an hour after starting prostaglandin or later.     

经食管超声心动图在小儿先天性心脏病围术期的应用价值

目的 评价经食管超声心动图(TEE)对指导小儿先天性心脏病(先心病)外科手术和介入治疗的应用价值及其安全性。方法 2000年11月至2005年1月，在上海市复旦大学附属儿科医院心血管中心接受外科开胸手术或经导管介入治疗的先心病患儿中有317例进行了TEE检查，年龄2个月至17岁6个月(平均4.7岁)。采用HP/SONOS2500超声诊断仪，频率5.5~7.5MHz双平面经食管探头，全麻状态下进行。结果 与术前经胸超声心动图(TTE)比较，术前TEE检查对诊断作出修正或补充者51例(16.1%)，其中因此而修正了手术治疗方案25例(7.9%)。术后TEE检查发现有并发症或残余问题57例(18.0%)，其中8例(2.5%)因此立即再次手术。所有病例均未因TEE检查而引起并发症。结论 TEE可安全地应用于小儿先心病围术期检查，对术前诊断做出修正或补充，术后可及时发现并发症或残余问题。 Abstract Objective To evaluate the utility of transesophageal echocardiography (TEE) for surgical and interventional repairs in children with congenital heart disease (CHD) and its safety as well.Methods 317 patients with CHD underwent TEE examinations at the age of 2 months~17 years and 6 months(mean 4.7 years).HP/SONOS2500 ultrasonic instrument with transesophageal biplane probe of 5.5~7.5MHz was used to perform TEE under general anesthesia.Results Compared with preoperative transthoracic echocardiography(TTE),TEE had new findings or made revision of the diagnoses in 51 cases(16.1%) before operations,which led to the changes of surgical or interventional precedure in 25 cases(7.9%).TEE had found residual problems or evolving situations in 57 cases(18.0%) after operations,which led to a second immediate surgical intervention in 8 cases(2.5%).There were no detectable complications due to TEE in all cases.Conclusion TEE is valuable in providing meaningful preoperative emendations or additions and finding residual problems after operations. The technique is safe in children. Key words Transesophageal echocardiography (TEE);Congenital heart disease (CHD);Perioperative period;Children     

Evaluation of prenatal risk factors for prediction of outcome in right heart lesions: CVP Score in fetal right heart defects

Abstract

Objective: To determine the prenatal variables predicting the risk of perinatal death in congenital right heart defects.

Methods: Retrospective analysis of 28 fetuses with right heart defects was performed. Logistic regression analyses were performed to obtain odds ratios (OR) for the relationship between the risk of death and echocardiographic parameters. The parameters that correlated with the outcome were incorporated in an attempt to devise a disease-specific cardiovascular profile score.

Results: Fetal echocardiograms (143) from 28 patients were analyzed. The cardiovascular profile score predicted the risk of death. A lower right ventricle (RV) pressure was associated with mortality (OR 0.959; 95% confidence intervals (CI) 0.940–0.978). Higher peak aortic velocity through the aortic valve (OR 0.104; 95% CI 0.020–0.529) was associated with a better outcome. These cardiac function parameters were incorporated in a modified disease-specific CVP Score. Patients with a mean modified cardiovascular profile score of ≤6 were over 3.7 times more likely to die than those with scores of 7–10.

Conclusions: The original Cardiovascular Profile Score predicted the risk of death in right heart defects. The modified score was not validated as a good prediction tool by this study. Fetal RV pressure estimate and peak aortic velocity can be used as independent prognostic predictors.     

胎儿心内膜垫缺损的产前诊断及相关因素分析

目的探讨胎儿心内膜垫缺损畸形的产前诊断及相关因素。方法对北京大学人民医院2004年1月~2007年8月产前及产后诊断的先天性心脏畸形中18例心内膜垫缺损胎儿产前超声特征、合并心内、心外其他畸形及与染色体异常的相关性进行分析。结果18例产前诊断的胎儿心内膜垫缺损中,完全性心内膜垫缺损14例(77.8%);不完全性心内膜垫缺损4例(22.2%);合并内心畸形12例(66.7%),心外畸形8例(44.4%),未合并其他畸形2例(11.1%)。产前及产后共行染色体核型分析14例,诊断21-三体2例(14.3%),其余染色体核型正常。结论胎儿心内膜垫缺损畸形易合并心内大血管畸形及心外畸形,与21-三体有一定相关性,妊娠期以四腔心联合左右室流出道切面的心脏超声筛查法具有较高的诊断率,临床应重视单纯表现为心内膜垫缺损胎儿产前染色体检查的必要性。     

Prenatal diagnosis of a familial 5p14.3-p14.1 deletion encompassing CDH18, CDH12, PMCHL1, PRDM9 and CDH10 in a fetus with congenital heart disease on prenatal ultrasound

Objective

We present prenatal diagnosis of a familial 5p14.3-p14.1 deletion in a fetus with congenital heart disease on prenatal ultrasound.