胎儿病毒感染与先天性心血管畸形

先天性心血管畸形是小儿最常见的先天性心脏病,胎儿期病毒感染与其发生关系密切.先天性心脏病严重危害儿童身心健康,明确其病因对预防和治疗先天性心脏病有重要的意义.该文综述宫内病毒感染导致先天性心脏病的病因、病毒传播途径、发病机制及预防措施.     

胎儿先天性心血管畸形产前干预

在医学及伦理学理论指导下,对严重先天性心血管畸形的产前干预探索逐步展开.目前,超声引导经皮/子宫穿刺胎儿宫内心脏介入手术,避免了胎儿体外循环和胎儿外置,对子宫/羊膜腔/胎儿刺激减小,充分考虑了母亲安全等优越性,逐渐成为严重先天性心血管畸形产前干预的主流方式.随着超声技术发展、操作器械改进、患者筛选标准口趋合理、治疗方案不断完善和对胎儿心脏解剖和功能特点深入了解,胎儿先天性心血管畸形产前干预必将进入新的层面.     

产时子宫外处理技术治疗胎儿先天性肺囊性腺瘤样畸形的初步探讨

目的 初步探讨采用产时子宫外处理技术（EXIT）治疗胎儿先天性肺囊腺瘤样畸形的可行性.方法 2010年10月至2012年6月我们对3例胎儿先天性肺囊腺瘤样畸形采用产时子宫外处理技术切除.3例均经2次以上产前彩超诊断为先天性肺囊腺样畸形,且巨大畸形导致胎儿心脏、纵隔部分或全部移位,术前计算CVR值均大于1.6.结果 3例术后均存活,其中男1例,女2例,手术时胎龄36 ～37＋周,平均（36.86±0.79）周,体重2 700～3 000 g,平均（2 866.67±152.75）g;麻醉时间130～134 min,平均（133.67 ±3.51）min;总手术时间92～98 min,平均（94.33 ±3.21） min;手术时间33～49 min,平均（42.67±8.50） min;术中出血量2～20 mL;平均（10.67±9.02） mL.术后病理检查结果均为肺囊性腺瘤样畸形,左肺2例,右肺1例.结论 产时子宫外处理可以作为治疗高风险先天性肺囊腺样畸形的方法之一,但因手术风险大,操作较复杂,需多学科团队进行合作,需严格把握该技术的适应证,结合各方面条件,谨慎选择.     

先天性联体畸形的外科处理

目的 总结4例联体儿分离术的经验,对联体儿诊治提供参考。方法 回顾性分析自1982～2001年,我院小儿外科共收治的4例先天性联体儿外科分离手术的临床资料,着重在手术时机、产前诊断、合并畸形、分离技术、术后监护、随访等方面。结果 4例联体儿畸形,其中胸部-脐联合畸形3例,坐骨联体1例,男性1例,余均为女性。均不同程度合并先天性心脏缺损,坐骨联体儿合并严重大血管畸形,泄殖腔畸形及Pieer-Robin综合征。2例产前超声检查获得诊断。2例紧急分离术时间为出生后7d内,存活1名。另2例延迟分离手术时间>1个月,均存活。随访存活的5名患儿,1982年分离的剑突-脐联体儿其中1名于术后4年“肺炎”死亡。另1名已20岁,健在。另一对胸部-脐联体儿术后1年发育良好。1例坐骨联体儿1名死亡,1名失随访。结论 手术时机与分离方式必需依据每一对联体儿局部环境及器官结构而定。紧急分离术存活率低,能延迟行分离术则存活率高。     

胎儿-新生儿先天性肺囊腺瘤样畸形手术初步结果分析

目的总结胎儿及新生儿先天性肺囊腺瘤样畸形的手术情况,初步比较两种手术的治疗结果。方法回顾性分析我们于2009年1月至2014年12月收治的13例先天性肺囊腺瘤样畸形患儿临床资料,均采取产时子宫外手术或新生儿期手术,术后均获得病理检查证实。按照手术方式将患儿分为两组,即胎儿手术组(n=6)、新生儿手术组(n=7),比较两组治疗结果。结果13例均存活,胎儿手术组与新生儿手术组手术时胎龄分别为(38.00±1.44)周、(39.27±1.42)周,P=0.138;出生体重分别为(3 060.00±342.05)g、(3 354.29±312.78)g,P=0.133;手术出血量分别为(8.67±6.38)mL、(6.29±3.04)mL,P=0.396;术后呼吸机支持天数分别为(3.67±1.75)d、(2.57±1.13)d,P=0.201;术后住院天数分别为(18.33±9.20)d、(11.43±2.43)d,P=0.081;差异均无统计学意义。肿物大小比较,P=0.000[(124.82±40.70)cm~3 vs(23.76±5.84)cm~3];手术时间比较P=0.000,[(43.16±6.6)min vs(92.86±24.58)min],差异有统计学意义。结论产时子宫外处理技术可以作为治疗高风险的先天性肺囊腺瘤样畸形的方法之一,但手术风险大,操作复杂,需多学科合作,把握手术适应证,谨慎选择。     

胎儿先天性肺囊腺瘤诊治进展

随着我国围产医学、产前诊断技术的不断发展,母胎医学已逐渐引起了人们的关注。2010年5月作者成功实施我国第1例开放性胎儿手术,     

剖宫直视下胎儿左侧先天性肺囊腺样畸形切除术后新生儿1例

先天性肺囊腺瘤样畸形(CCAM)是由于末端支气管呈瘤样过度生长,同时损害肺泡,在肺实质内形成有明显界限的一种病变,可在患儿出生后不久导致呼吸循环衰竭而死亡[1]。该症可分为3型。其中Ⅲ型预后不良,Ⅱ型并胎儿水肿及羊水增多,预后亦极差,一般均需外科干预,但往往在出生早期即失去手术机会[2]。从20世纪90年代起美国及欧洲一些国家已逐渐发展形成胎儿手术     

小儿先天性肾盂输尿管连接部梗阻诊治265例

目的探讨离断性肾盂成形术在小儿先天性。肾盂输尿管连接部梗阻中的治疗效果。方法总结2006年至2007年收治的265例小儿先天性肾盂输尿管连接部梗阻患儿的临床资料。男226例，女39例。左侧183例，右侧65例，双侧17例。平均年龄4．5岁，其中年龄小于1岁34例。根据症状、超声、静脉尿路造影（IVU）或核磁水成像明确诊断，对重度肾积水患儿行肾核素扫描了解分肾功能。均行腹部横行小切口离断性肾盂成形术（Anderson—Hynes术式）。结果术后随访6个月，以梗阻症状消失、。肾盂变窄或肾实质增厚为治愈标准。病理诊断：肾盂输尿管连接部狭窄并高位输尿管最多见，占93．2％。265例（282侧）一次手术成功率为98．5％。结论新生儿肾积水多为生理性，有白行改善的可能，绝大多数不需要手术治疗。小儿先天性肾盂输尿管连接部梗阻的首要病因是。肾盂输尿管连接部狭窄。有明显梗阻症状、肾盂进行性扩张或。肾功能损害进行性加重者需手术治疗，首选离断性。肾盂成形术。     

Prenatal diagnosis and fetal therapy of congenital cystic adenomatoid malformation type I of the lung: a report of five cases

ABSTRACT  We experienced five pregnancy cases with type I congenital cystic adenomatoid malformation (CCAM) of fetuses and summarized here their clinical characteristics, pregnancy outcomes, and fetal therapies. Four of five cases were prenatally diagnosed using magnetic resonance imaging (MRI) as having lung abnormality, and the remaining case was prenatally diagnosed as having congenital diaphragmatic herniation (CDH). One fetus underwent the puncture of cysts in the lung, and two fetuses received in utero thoracoshunts between cysts and the amniotic fluid cavity (thoracoamniotic shunt). One pregnancy ended in artificial termination at 17 gestational weeks, and 4 pregnancies succeeded in live births. All these 4 infants underwent surgical operations for CCAM, and 1 infant underwent an additional operation for CDH. The MRI examinations were useful to prenatally identify CCAM, and the in utero thoracoamniotic shunt appears to be beneficial in preventing lung hypoplasia in the affected fetuses.     

Rhabdomyosarcoma arising within congenital cystic adenomatoid malformation

Rhabdomyosarcoma arising within a congenital cystic adenomatoid malformation (CCAM) is an unusual entity. The patient underwent a lobectomy of his right lower lobe of lung due to a CCAM at the age of two. One year later, he developed a solid embryonal rhabdomyosarcoma at the same location. He received 1-year period chemotherapy and when the tumor reduced to a resectable size, surgical excision was done. The tumor cells appeared more differentiated after chemotherapy. The patient remains disease free to date, 16 months after surgery.     

Unusual roentgenographic presentation of a congenital cystic malformation of the lung

We describe here an infant with a large, solitary, fluid-filled lung cyst and hyperinflation of adjacent lung tissue in the same lobe. The combination of a fluid-filled cyst and ectatic emphysema in the same lobe suggests bronchial collapse and airway obstruction as a contributory mechanism for this unusual roentgenographic presentation of a congenital cystic malformation of the lung.This investigation was supported in part by a grant (RR-81) from the General Clinical Research Centers Program of the Division of Research Resources, National Institutes of Health and by Grant HD-00049 from the National Institutes of Health     

Fetal case of congenital cystic adenomatoid malformation of the lung: fetal therapy and a review of the published reports in Japan

We herein report a case of type I congenital cystic adenomatoid malformation of the lung (CCAML) with non-immune hydrops fetalis (NIHF), a mediastinal shift and polyhydramnios diagnosed at 24 weeks' gestation by ultrasonography. The fetus was treated with a cyst-amniotic shunt at 29 weeks' gestation. Following a postnatal whole resection of the right lung, postpneumonectomy syndrome appeared and, as a result, the infant died 13 months after delivery due to respiratory failure. Only 19 cases demonstrating CCAML associated with NIHF have been reported previously in Japan. Four cases showed a spontaneous resolution of NIHF, while 5 cases with type I CCAML, which all underwent fetal intervention, demonstrated an excellent outcome.     

儿童先天性肺气道畸形20 例临床分析

目的总结儿童先天性肺气道畸形(CPAM)的临床特点。方法回顾分析2016年1月至2018年12月诊断为CPAM的20例患儿临床资料。结果 20例患儿中,男12例、女8例,平均年龄(30.4±7.6)个月;病程5天～3年。17例表现为反复咳嗽、喘息、发热,1例表现为胸闷,2例表现为呼吸困难。双侧病变4例;单侧病变16例,累及左侧7例,右侧9例。合并心脏畸形2例,1例为三房心。肺高分辨CT检查14例患儿表现为大囊型,均伴有纵隔移位;6例为小囊型。术后病理分型,Ⅰ型14例,Ⅱ型5例,Ⅳ型1例。所有患儿均手术治疗,术后随访时间1～24个月不等,均恢复良好。结论 CPAM少见,可合并其他系统畸形,可通过肺部高分辨CT检查发现,确诊需依据病理组织学检查,经手术治疗后预后较好。     

新生儿先天性畸形481例构成和相关因素分析

目的 回顾性分析10年中新生儿畸形在发生率和组成结构中的变化,并探讨可能与畸形发生相关的多种因素的暴露情况,以研究新生儿畸形的现状,从而寻求有效降低新生儿畸形的方法.方法 选择10年内发生的所有新生儿畸形病例,对历年孕妇产前检查率、胎儿畸形构成状况、孕妇多种相关暴露因素进行分析,并对结果进行x2检验.结果 孕妇按时作产前检查对降低新生儿畸形的发生率和降低畸形的严重程度有重要的意义.先天性心脏病的发生率占所有畸形之首,神经系统畸形的发生率则明显下降.育龄妇女患性病、孕期感染等致畸因素近年来呈上升趋势.结论 孕妇产前检查,特别是应用B超和染色体检测进行筛查;减少母亲性病及孕期感染的发生对防范新生儿畸形的发生有重要意义.     

Progression of congenital heart disease in the prenatal period

BACKGROUND: Prenatal echocardiography has shown evidence of prenatal development of congenital heart disease. Prenatal cardiac anatomy, chamber size and function change during gestation, so that the appearance of cardiac structure in abnormal hearts may be different from that which is usually seen postnatally. METHODS: Published prenatal echocardiographic studies were reviewed and in utero development of congenital heart disease from midtrimester to the early postnatal period is discussed. RESULTS: The growth of the great vessels and ventricles is reduced in fetuses with ventricular outflow obstruction. Valve regurgitation may progress. The foramen ovale and ductus arteriosus have been reported to become restrictive in utero in several settings. Pulmonary vascular obstructive changes may progress prenatally. Fetal arrhythmia (both bradycardia and tachycardia) may develop in utero. Development of congestive heart failure is a very important issue during follow up of fetuses with significant cardiac or extracardiac problems. Some may progress to fetal hydrops and prognosis of the affected fetuses is usually very poor. CONCLUSIONS: Correct knowledge of possible development is important for accurate prenatal diagnosis. Information on prenatal progression of the cardiac anomaly is also important to make plans for follow up and perinatal management, to predict outcomes and to counsel family. Furthermore, the benefits of prenatal treatment instead of postnatal treatment should be assessed by the accurate prediction of the progression of the cardiac problem in utero. Further extensive studies using a large number of cases is required to predict progression accurately. In addition, further studies for elucidating the mechanisms of progression is important to provide better outcomes for fetuses with various congenital heart diseases.