胎儿外科相关畸形的超声产前诊断和治疗

目的　探讨胎儿畸形的产前超声诊断和新生儿外科早期治疗模式。　方法　分析我院1998年 3月～ 2 0 0 0年 12月超声诊断 9例胎儿外科相关畸形 ,其中 6例在新生儿期手术治疗 ,2例保守治疗 ,1例引产。　结果　孕中期诊断 2例 ,孕晚期诊断 7例 ,包括十二指肠闭锁合并环状胰腺、腹壁肌肉缺损、膈疝、巨大脐膨出、高位无肛各 1例 ,肾盂积水 4例 ,其中重度 2例。除 2例轻度肾盂积水保守治疗和 1例高位无肛引产外 ,6例新生儿期手术治疗 (5例成活 ,1例死亡 )。　结论　在我国胎儿外科尚未进入临床前 ,产前诊断及新生儿外科早期治疗是现阶段较符合我国国情的治疗模式。新生儿外科需要深入到产科和产前超声诊断 ,更重要的是努力提高围产期胎儿畸形产前诊断的准确率 ,使胎儿畸形得到早期治疗     

44例十二指肠梗阻患儿的产前诊断、围产期管理与治疗

目的 探讨十二指肠梗阻的产前诊断、围产期管理与规范化治疗.方法本院与北京妇产医院合作建立了"先天性畸形产前诊断与围产期管理、生后治疗与随诊网络",2001年7月至2010年9月,按此网络模式进行管理与治疗且产前诊断为十二指肠梗阻患儿共44例.总结这44例患儿的产前诊断与生后治疗及预后情况.结果 44例孕妇在北京妇产医院产前常规超声检查诊断为胎儿十二指肠梗阻,来本院进行了咨询.咨询后3例选择引产,3例处于妊娠中,14例失访,24例经手术证实确诊并进行相应治疗.手术组24例产前超声征象中"双泡征"21例,羊水过多20例.出生后影像学检查:腹立位X线平片24例,其中22例显示"双泡征",1例"单泡征"、1例"三泡征";上消化道造影19例,均显示胃及十二指肠扩张、蠕动增强,十二指肠部位排空受阻;超声检查23例,10例显示十二指肠扩张、蠕动增强.手术方式:环状胰腺19例,均行十二指肠-十二指肠菱形吻合术;十二指肠膜式狭窄4例,行隔膜切除、肠管纵切横缝术;十二指肠离断式闭锁1例,行端-背肠吻合术;术中发现合并肠旋转不良11例,同时行Ladd手术治疗.手术患儿均治愈出院.结论对产前诊断为十二指肠梗阻的患儿应实施规范化围产期管理,出生后尽早手术治疗可取得较好的疗效.     

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。     

先天性膈疝的子宫外产时处理与预后探讨

目的探讨先天性膈疝孕妇及新生儿临床特点,建立先天性膈疝产时处理流程规范,提高先天性膈疝患儿围产期生存率。方法回顾性分析中国医科大学附属盛京医院2008年1月至2016年12月收治的23例先天性膈疝患者临床资料。结果 23例患儿均接受子宫外产时处理(EXIT)手术,20例患儿出生后行膈肌修补术,2例患儿放弃治疗,1例患儿暂未手术。远期随访19例患儿生存,2例失访。结论轻中度先天性膈疝患儿孕期通过超声诊断后应转入产前诊断中心,密切监测并完善相关检查,分娩时多学科合作行EXIT手术,并在新生儿呼吸、循环系统功能稳定后行膈疝修补手术,能够得到良好的预后结局。     

一所产科教学医院中巨细胞包涵体病(CID)的发生率(1975-1984)

本文复习截至1984年6月的10年中墨尔本M产院所有产妇及新生儿的临床病历以及从其他产科中心转入新生儿加强监护病房的入院记录.同时统计1971-1980该院所有分娩的产前并发症和分娩方式.在47,320次出生中,发生12例新生儿巨细胞包涵体病(CID)(0.03%),发病率为4,000次分娩中1例.在738例从外院转入的新生儿中还有4例诊断为CID.这16例中12例诊断为先天性CID,4例为     

胎儿十二指肠梗阻的治疗模式

随着围产医学的发展,产前诊断与筛查越来越受到重视.产前超声检查是诊断胎儿先天性畸形的重要手段之一.由于胎儿十二指肠梗阻有明确的影像学特点,产前筛查中心都能对胎儿十二指肠梗阻做出诊断.但是对医生与孕妇来讲,诊断后如何治疗是很棘手的问题.本研究结合淮安市妇女儿童医院产前筛查中心8例产前诊断为十二指肠梗阻的治疗情况做一分析,以期探讨一种多学科合作的治疗模式.     

可治性先天性结构异常胎儿的产前诊断及生后早期外科治疗

随着产前诊断的普及,大多数胎儿宫内结构异常能通过超声检查得到早期发现.结合产前染色体检查及胎儿磁共振等手段将胎儿结构异常分为可治性及难治性2类,其中体表结构异常及一些单一内脏畸形可在产后手术矫治者定为可治性畸形.本院自2007年1月至2010年1月共收治了31例可治性先天性结构异常患儿,通过产前诊断、围产期评估及早期外科手术治疗等取得了满意的效果,现总结如下.     

胎儿肾疾患与肾机能

随超声诊断方法不断进步,可早期检测出各种先天性胎儿畸形,在优生学方面起着重要的筛选作用,已成为产前诊断的首选方法.本文重点介绍超声诊断各种胎儿肾泌尿系统畸形的声像特点及出生后治疗进展.     

畸形子宫产妇妊娠结局的临床分析

目的:通过比较各类畸形子宫与正常子宫产妇孕期情况及母儿结局,为畸形子宫妇女的孕前咨询、孕期管理、产程监护及分娩方式的选择提供参考.方法:回顾分析于昆明医科大学第一附属医院产科分娩的102例畸形子宫患者的临床资料.结果:102例畸形子宫患者中,16.7％为孕前诊断,14.7％为产后诊断.孕期行泌尿系统B超者占11.8％,...     

产前超声诊断前脑无裂畸形

目的 了解产前超声诊断前脑无裂畸形(HPE)的特征,加强对此类畸形的认识. 方法回顾性分析我院2001年5月至2007年11月,产前超声诊断与疑似诊断HPE 30例,超声重点观察颅内结构、颜面部畸形及脑与面部以外的结构畸形,部分病例行染色体和产前MRI检查.结果 30例产前诊断或疑似HPE病倒中经尸检、引产后MRI或CT确诊25例,男10例,女15例;误诊5例,尸检分别为脑积水、孔洞脑和水脑.无叶型HPE 21例(产前超声与生后尸检、引产后MRI或CT一致);半叶型4例(产前MRI与产后尸检诊断).头颅大小径线改变者占83.3 0A(20/24),双顶径小于正常者占62.5%(15/24).面部以中轴部畸形多见,22例(88.0%)有面部畸形,全部有限距的变化,鼻部异常11例、中央性唇、腭裂11例.合并复杂先天性心脏病10例(40.0%).10例行脐血或羊水染色体检查,核型异常5例,其中4例有复杂先天性心脏病. 结论 产前超声检查是诊断HPE的重要方法,诊断准确率高,但对前脑无裂分型有困难,MRI对分型有肯定价值.HPE均有颅内结构异常,常伴有颜面部畸形,少数不伴有颜面部畸形.脑与面部以外的结构畸形中以复杂先天性心脏病为主.HPE与染色体异常高度相关.     

Prenatal diagnosis and management of some fetal intrathoracic abnormalities

Nine cases of fetal intrathoracic anomalies detected in utero and followed to birth are reviewed. There were 6 congenital diaphragmatic hernias (CDH), one congenital pleural effusion and two isolated cysts of the lung. All these conditions were potentially responsible for neonatal respiratory distress and received early intensive treatment after maternal transport and delivery had been arranged in a center with thoracic surgical facilities available. The risks of a delayed or missed diagnosis were thus avoided, especially for CDH. Despite intensive, traditional, respiratory support, started in the delivery room, mortality among prenatally detected cases of CDH was paradoxically high (83%), compared to mortality among 7 cases of CDH not detected in utero, referred in the same period to our Institution, and symptomatic within 6 h from birth (63%). With prenatal diagnosis the total number of CDH cases referred to a surgical center before birth increases. Many cases which would never have been treated in the past because of death before referral and treatment for severe pulmonary hypoplasia not compatible with life are thus observed and sometimes treated. Nevertheless, lung development continues to be a determining factor for survival even when intensive treatment at birth is available. Responsiveness to therapy is unpredictable before birth and proposed antenatal treatment is still far from being a realistic option. For the other three newborns, where a pleural effusion and pulmonary cysts were found, prenatal diagnosis helped to start appropriate treatment and to prevent neonatal hypoxia in two of them. In the third case, with an incommunicant, isolated pulmonary cyst, the outcome would have been favourable even without a prenatal diagnosis.     

Prenatal diagnosis and management of congenital cystic adenomatoid malformation of the lung

OBJECTIVE: Our purpose was to review the management and outcome of pregnancies with a prenatal diagnosis of fetal congenital cystic adenomatoid malformation of the lung (CCAM). STUDY DESIGN: A retrospective review was performed of all cases since 1995 with a prenatal diagnosis of fetal CCAM from the sole tertiary perinatal referral center in Western Australia. RESULTS: Twenty-one pregnancies with CCAM were identified. The gestational age at diagnosis was <22 weeks in 86% of cases. Macrocysts were seen in 76% of cases during ultrasound examination. Seventeen pregnancies continued until term. Regression of the sonographic appearances was observed in 19% of cases. Fetal hydrops complicated two cases. One neonate died within 24 hours of delivery because of pulmonary hypoplasia. Twelve children have required pulmonary lobectomies. No adverse sequelae are evident in surviving children. CONCLUSION: Most cases of prenatally diagnosed CCAM have had a good outcome. This review has positively influenced the counseling of women with this diagnosis.     

Prenatal diagnosis of truncus arteriosus communis (type I) in diabetic pregnancy]

Recently Ferencz et al. [6] using the datas of the Baltimore-Washington Infant Study found a predominance of double outlet righ ventricle and truncus arteriosus communis among the congenital heart diseases of newborns of diabetic mothers. This paper reports about the prenatal diagnosis of a truncus arteriosus communis Type I in a 23 year old pregnant with insulin-dependent diabetes mellitus (White B). The diagnosis was performed in the 25th week using Real-Time- and Color-Doppler-sonography. The important features in the prenatal differentialdiagnosis from a tetralogy of Fallot are explained. The optimal management of pregnancy, the delivery at a perinatal center with subsequent operative correcture could improve the prognosis of the newborn.     

Le diagnostic anténatal d’atrésie bronchique est-il possible ?

Bronchial atresia is a rare congenital malformation of the lung. The main-stem segmental or lobar bronchus fails to construct normally, which can lead to accumulation of mucus within the distal bronchi or lung hyperinflation of the obstructed lobe. The prenatal diagnosis is rare and difficult. We report two cases of fetuses who presented pathological examination of the lung on the ultrasonography, at 22 weeks of gestation, suspect of prenatal bronchial atresia diagnosis. We analysed this malformation through a literature review in order to discuss differential diagnosis to be evoked, as well as appropriate perinatal management.     

Congenital diaphragmatic hernia--diagnostic and therapeutic procedures

Congenital diaphragmatic hernia (CDH) is connected with a high risk of neonatal mortality and morbidity, which are caused mostly by lung hypoplasia. Frequency of these congenital malformations is 1: 2000-3000 live birth. CDH can be isolated, but in as many as 23% of cases, it co-exists with other fetal anomalies. Moreover, in 12% of cases it may be connected with genetically determined syndromes. Ultrasonographic diagnostics, especially in isolated CDH cases, is very difficult so that pregnant women must very often be admitted to perinatal 3rd references center. The first symptom to suggest CDH is polyhydramnios appearing between the 2nd and 3rd trimester of pregnancy. Appropriate prenatal diagnosis, delivery at a specialized perinatal center, and well-prepared neonatal, anaesthesiological and surgical teams significantly improve the survival rate and increase the likelihood of the proper development of newborn infants. The aim of this paper is the presentation of the case of a newborn diagnosed with intrauterine CDH who, upon delivery at 34th week of gestation, was admitted to the Department of Child Surgery, and after surgical procedures, was discharged in a healthy condition.     

CCAM type II with no clinical symptoms before and after birth--diagnosed in the 21st week of pregnancy and child pediatric observation in the first 3 years of age--a case report

CCAM is rare congenital malformation of the respiratory tract. Presented case of CCAM type II was diagnosed based on the prenatal examination. In presented case without clinical signs after delivery diagnosis of CCAM type II was established based on prenatal diagnosis. This allowed after delivery to take up focused radiological diagnostics and further proper malformation monitoring.     

超声检测胎儿严重先天性心脏畸形9例分析

目的 探讨二维超声心动图和彩色多普勒超声产前诊断胎儿先天性心脏畸形的可行性。方法 应用二维超声图像对胎儿心脏进行四腔切面,左室流出道,右室流出道切面等心脏解剖结构检查,加以彩色多普勒血液图对胎儿心脏进行血流方向及流速的观察。结果 １３５３９例被检孕妇中９例胎儿存在严重的先天性畸形,其中４例左心发育不良,２例肺动脉瓣狭窄,２例大血管转位,１例内脏反位,右心发育不全,均由病理尸解或新生儿心脏超声证实。     

Isolated fetal ascites: prenatal diagnosis and management

The perinatal outcomes of four patients with isolated fetal ascites were evaluated. The ascites disappeared prior to delivery in 50% of the cases and was resolved shortly after delivery in the remainder. Excellent neonatal outcomes were observed. Thus, isolated fetal ascites may represent a separate condition that significantly differs from the general category of nonimmune hydrops in both perinatal courses and prognoses. The prenatal diagnosis and management of this condition are discussed.