早孕期超声规范化结构筛查在胎儿四肢畸形诊断中的应用

目的总结胎儿四肢超声规范化结构筛查图像特征及孕早期胎儿四肢畸形超声诊断的临床意义。方法对3267例（3882个）孕11-13＋6周胎儿（单胎妊娠2654例,双胎妊娠611例,3胎妊娠2例）行早孕期超声规范化结构筛查。结果3267例（3882个）11-13＋6孕周胎儿中产前超声检出四肢畸形5例,其中单胎妊娠4例（上肢畸形3例,下肢畸形1例）,双胎妊娠1例（双胎之一上肢畸形）。超声声像图示：（1）下肢畸形1例,胎儿双下肢股骨缺如。（2）手畸形1例,胎儿右手掌指骨部分缺如合并胎儿水肿（皮下水肿、胸腹腔积液、颈淋巴水囊瘤）,单心房室畸形。（3）前臂及手缺如1例,胎儿右前臂缺如。（4）手腕部姿势异常1例,胎儿双手腕关节极度内屈,合并胎儿水肿（皮下水肿、胸腹腔积液、颈淋巴水囊瘤）。（5）尺桡骨发育不良1例,双胎中1胎儿右上肢尺桡骨发育不良,胎儿水肿（颈淋巴水囊瘤）,脊柱裂,脐膨出;另一胎儿无异常表现。5例胎儿随访结果：（1）1例双胎中上肢畸形胎儿经选择性减胎术后正常胎儿继续妊娠,4例引产胎儿肢体检查证实产前超声漏诊1例缺指畸形,余3例胎儿引产前与引产后超声检查结果相符合。结论孕早期胎儿四肢超声规范化结构筛查可及早发现胎儿肢体畸形,对降低较大孕周孕妇引产率及双胎和体外受精-胚胎移植胎儿的产科处理均有重要临床价值。     

Managements of Ebstein＇ s anomaly with Hetzer technique

Background Ebstein’s anomaly is a rare and complex congenital malformation of the tricuspid valve and the right ventricle with variable pathological anatomy. The surgical treatment of this anomaly has long been controversial. We reviewed cases corrected with Hetzer technique to analyze the uni/biventricular strategy,timing of surgery and results. Methods Between October 2009 and December 2013, 21 patients with Ebstein’s anomaly were admitted to Guangdong General Hospital and underwent surgical correction. There were 11 males and 10 females. Type A, 3 cases; Type B, 16 cases; Type C, 1 case, Type D, 1 case. The 2 patients of Type C and Type D undergoing Starnes procedure were excluded, all other 19 patients who underwent surgical repair with Hetzer technique in this time frame were included in the analysis. In this “Hetzer group”, the age at the time of the repair ranged from 13 months to 42 years（median： 8 years） and weight ranged from 11.3 to 55kg（median： 19.5 kg）. Combined anomalies include： 2 of 3 Type A combined with secondum atrial septal defect（ASD）, 14 of 16 cases of Type B combined with secondum ASD, both of 2 cases of Type C and D combined with secondum ASD. 2 of 21（9.5%） of these patients have Wolff-Parkinson-White（WPW）syndrome. Results There was no early, or late mortality. One 13-month infant boy, after valvuloplasty, ASD closure and bidirectional Glenn（BD-Glenn） procedure, presented with low cardiac output, depression of the left ventricle, severe tricuspid regurgitation（TR） with massively dilated right ventricle, the patient underwent emergent redo procedure, however, even after re-valvuloplasty, Transesophageal echocardiography（TEE）showed moderate to severe TR, we decided to reopen and enlarge the ASD, sewed a 5 mm fenestrated pericardial patch to close the tricuspid orifice partially, after 7 days, the patient weaned successfully from the ventilator. Another two 1-year old infants after valvuloplasty, BD Glenn and partial ASD closure showed no improvem     

新生儿青紫型先天性心脏病预后影响因素分析

<正>先天性心脏病(先心病),是新生儿期常见的先天畸形之一,其发病率约占活产婴儿的6‰～8‰[1],其中青紫型先心病患儿心脏解剖畸形复杂,存在右向左分流、血流动力学障碍,病死率     

SSFSE序列在胎儿中枢神经系统MR检查中的应用

目的探讨单次激发快速自旋回波（SSFSE）序列在胎儿中枢神经系统MRI检查的应用价值。方法通过分析SSFSE序列的成像原理,并将其应用于检查中,评价其图像。结果应用SSFSE序列成像可以在轴位、矢状位、冠状位成像。结论SSFSE序列应用于胎儿中枢神经系统MRI检查具有广泛的价值。     

降低出生缺陷儿的几点建议

出生缺陷也称为先天异常或先天畸形,是指在母体子宫内发生的发育异常及存在于某些部位的畸形。实施出生缺陷干预,提高出生人口素质是新时期人口和计划生育工作的主要任务之一。为掌握精河县出生缺陷发生及缺陷种类,结合目前开展的“国免孕优”项目工作,我们对精河县3年来（2010-2012）的出生缺陷发生情况及具体原因进行了1次调查。数据来源于精河县计生系统3年的出生缺陷原因调查统计表。     

先天性脊柱侧凸伴发畸形

先天性脊柱侧凸（Congenital scoliosis,CS）是椎体先天畸形导致的一种少见疾病,是指由于椎体结构缺陷导致的〉10°的脊柱侧凸[1],活产儿发病率约为1‰[2]。目前,临床上常用Hedequist和Emans[3]根据椎体结构提出的CS分型方法：椎体形成障碍为Ⅰ型,椎体分节障碍为Ⅱ型,同时具备上述两者特征为Ⅲ型。     

胎儿系统超声检查在胎儿先天畸形中诊断价值探讨

目的:研究胎儿系统超声检查应用于胎儿先天畸形诊断中的临床价值。方法:择取我院2017年10月—2019年2月期间接受产检的526例孕妇研究对象,先后接受常规超声与系统超声检查,比较两种超声检查结果。结果:根据引产和生产结果,可知共有42例胎儿为先天畸形,畸形发生率率为7.98%;系统超声检查正确率高于常规超声,组间差异存在统计学意义(P<0.05)。结论:系统超声检查应用于胎儿先天畸形诊断中应用价值较高,对于提升人口出生质量应用价值较高,值得在临床上应用。     

Mustarde术式治疗尿道下裂14例临床观察

尿道下裂是小儿泌尿外科常见的先天畸形,手术治疗是矫治这一畸形的唯一手段,现已报道术式有300余种。我科采用Mustarde术式治疗尿道下裂14例,下面就该术式,谈谈治疗体会。     

从生命源头阻断出生缺陷

我国是人口大国,也是出生缺陷高发国家,每年新增90万~100万个出生缺陷患儿。出生缺陷是指婴儿出生前发生的身体结构、功能或代谢异常,包括先天畸形、染色体异常,遗传代谢性疾病、先天性功能异常(如盲、聋和智力障碍等),不但影响儿童的生存和生活质量,而且影响国民健康素质。