胎儿小肠闭锁的超声诊断价值

目的探讨胎儿小肠闭锁的超声特征及临床意义。方法回顾分析本院近10年来经超声检查并诊断的8例胎儿小肠闭锁的声像特点及其他伴发改变。结果胎儿小肠闭锁8例,均伴羊水过多。结论胎儿肠腔扩张呈＂车轮状＂改变是胎儿小肠闭锁的特征性声像,而羊水过多则是有力佐证之一,胎儿小肠闭锁是胎儿消化道畸形的一种少见畸形,超声可作为诊断胎儿小肠闭锁的最佳首选手段。     

胎儿肺动脉狭窄超声诊断的临床价值

目的探讨胎儿期肺动脉狭窄超声诊断的临床价值。方法对所有受检胎儿均进行四腔心切面及左右流出道切面扫查,并对发现的8例肺动脉狭窄的超声表现进行分析总结。结果产前超声诊断肺动脉狭窄8例,均经胎儿超声心动图复查,并引产证实,其中伴房间隔缺损3例,伴室间隔缺损2例。结论本结果显示胎儿产前超声行四腔心切面及左右流出道切面扫查对胎儿肺动脉狭窄具有重要的诊断与鉴别诊断价值,在孕18-24周进行产前超声有助于本病的早期诊断与处理。     

产前超声观察肛管声像图对胎儿肛门闭锁的诊断价值

目的探讨产前超声观察肛管声像图对胎儿肛门闭锁的临床意义。方法选择2011年1月至2012年12月在日照市人民医院进行产前超声筛查并生产的孕妇13433例．年龄21～42岁．孕周20～40周：胎儿13600例。对其胎儿月肛门进行超声检查．观察胎儿肛管解剖结构多切面超声影像．评价胎儿肌管缺失的方法对筛查胎儿肛门闭锁的准确度。结果胎儿肛管声像图显示率99.2％（13493／13600）。其中孕20～27＋6周胎儿10600例。除2例肛门闭锁胎儿外．其余胎儿肛管声像图显示率为99．9％（10598／10600）．首次检查胎儿肛管声像图显示率为99．6％（10556／10600）,且每例耗时〈2min,、孕28～40剧胎儿3000例．肛管声像图显示率96．5％（2895／3000）。2例胎儿肛门超声检查显示肛管声像图缺失者．引产后尸检证实为胎儿肛门闭锁．超声显示肛管声像图存在的13493例胎儿产后均排除肛门闭锁畸形。结论产前超声评价胎儿肛管有无缺失的方法简便可靠．可以提高胎儿肛门闭锁的检出率和准确度。     

超声诊断胎儿肠道闭锁11例临床分析

目的 通过对11例胎儿肠道闭锁的声像图表现,探讨了胎儿肠道闭锁的声像图特征.方法 使用PHILPS-M2540A彩色多普勒超声诊断仪,使用的探头频率为3.5MHz,对疑有胎儿肠道发育异常的进行动态的追踪,多角度全方位扫查,取得最佳图象进行观察.结果 本组11例肠道闭锁中,经解剖证实分别为直肠闭锁1例,十二指肠闭锁5例,结肠闭锁5 例,其中1例肠道闭锁合并其他畸形.结论 超声检查能提供准确的诊断信息,这对降低胎儿出生缺陷及计划生育和优生优育具有重要意义.     

产前超声筛查诊断室间隔完整-肺动脉闭锁的临床价值

目的探讨室间隔完整-肺动脉闭锁的产前超声筛查诊断意义及临床价值。方法对20 000例胎儿采取胎儿心脏四腔心切面、左右心室流出道切面、三血管切面快速筛查胎儿心脏畸形,对疑有胎儿心脏畸形者叠加彩色多普勒超声观察血流,对异常者进行胎儿超声心动图复查确诊。结果产前共诊断室间隔完整-肺动脉闭锁7例。结论超声诊断胎儿室间隔完整-肺动脉闭锁,四腔心切面有很好的提示作用,结合其他切面及彩色多普勒超声观察血流,对诊断室间隔完整-肺动脉闭锁具有重要的临床价值,值得在广大的基层医院开展应用。     

先天性胎儿畸形-无脑儿的超声诊断

病史摘要:女性,25岁,孕1产0.因丈夫密切接触农药3年多,现停经22周,自觉似无胎动,为排除胎儿畸形,到我院作产前超声检查.     

胎儿软骨发育不全的超声诊断

目的 探讨超声诊断胎儿软骨发育不全的声像图特征和临床意义.方法 从近4万名孕期超声检查的孕妇中检出胎儿软骨发育不全4例.结果 胎儿四肢长骨粗短,胸廓呈古钟状,头颅增大,腹部膨隆是胎儿软骨发育不全的主要声像图表现.结论 超声诊断是初步筛查软骨发育不全的理想方法.     

产前超声诊断胎儿肢体畸形

目的探讨胎儿肢体畸形的超声声像图特征,并比较二维及三位超声在诊断胎儿肢体畸形方面的优劣点。方法回顾性分析我院2010年6月～2013年10月间产前超声检出的29例胎儿四肢畸形的类型及其二维、三维超声声像图特征。结果产前超声共诊断胎儿肢体畸形29例,大体分为6种畸形：（1）四肢短小畸形6例。（2）手、足姿势异常10例,其中手姿势异常3例,足内翻畸形7例（误诊1例）。（3）肢体远端缺如畸形4例。（4）桡骨发育不全或缺如畸形3例。（5）缺、并指（趾）畸形4例,漏诊2例。（6）多指（趾）畸形2例,漏诊3例。结论胎儿肢体畸形种类多,规范的产前超声检查是诊断胎儿肢体畸形的重要方法,产前筛查是诊断胎儿肢体畸形的首选检查方法。     

胎儿心律失常的超声心动图诊断

<正>胎儿心律失常通常指在无宫缩时,胎儿心律不规律变化或者胎儿心率持续超过160次/分或低于120次/分。胎儿心律失常临床较常见,占胎儿总数的1%~2%[1]。据报道约10%的胎儿心律失常同胎儿的心血管畸形、胎儿死亡、胎儿神经系统畸形相关[2]。由于胎儿心电信号难以用其它无创方法获得,超声心动图是目前临床应用于诊断与鉴别诊断胎儿心律失常的首先方法。目前,超声心动图主要通     

Familial occurrence of pulmonary atresia with intact ventricular septum

Pulmonary atresia with intact ventricular septum (PA/IVS) is a rare disease, accounting for less than 3% of all congenital heart lesions. The cause of PA/IVS is unknown. We report the occurrence of two first cousins with PA/IVS, suggestive of autosomal dominant inheritance with incomplete penetrance. The study of such families should ultimately lead to the identification of the gene(s) that cause congenital heart disease. Am. J. Med. Genet. 72:294–296, 1997. © 1997 Wiley-Liss, Inc.     

胎儿肾盂扩张的超声诊断和观察

目的探讨胎儿肾盂扩张的超声诊断标准和自然病程。方法应用超声方法对3000例胎儿双肾进行筛查，肾孟分离大于6mm作为入选标准。并分为4组：Ⅰ组，肾孟分离前后径≤10mm，且没有肾盏扩张；Ⅱ组，10mm〈肾孟分离前后径≤15mm，且没有肾盏扩张；Ⅲ组，肾孟扩张延续到肾盏，肾孟前后径分离≤15mm；Ⅳ组，肾孟和肾盏均有扩张，15mm〈肾孟前后径分离。定时超产随访。结果Ⅰ组48只肾孟扩张出生6个月内全部消失；Ⅱ组9只肾孟扩张，1例缓解。8例消失；Ⅲ组3只肾孟扩张出生1年内2例消失，1例无变化；Ⅳ组4只肾孟扩张出生1年内1例减轻，1例无变化，2例加重。结论Ⅰ、Ⅱ组胎儿肾盂扩张呈相对良性过程，大多可以自然消退；Ⅲ组胎儿肾孟扩张有可能积水程度逐渐加重或变化不大，应注意随访；Ⅳ组胎儿肾孟扩张可以考虑中止妊娠。     

Congenital pulmonary atresia with intact ventricular septum, tricuspid insufficiency, and patent ductus arteriosus in two sibs

Pulmonary atresia comprises only 1% of all congenital heart defects. Counseling the parents on recurrence risks is difficult. We present a rare case of pulmonary atresia in two sibs, along with a review of the literature.     

The tricuspid valve in pulmonary atresia and intact ventricular septum: a morphological study of 60 cases

A morphologic study of the tricuspid valve was performed in 70 patients with pulmonary atresia and intact ventricular septum who had died and subsequently undergone autopsy. The right ventricular cavity was enlarged in 8 patients, normal in 4 patients, mildly underdeveloped in 18 patients, and markedly underdeveloped in 24 patients. In the patients with dilated and enlarged right ventricle, the tricuspid valve exhibited features of dysplasia or Ebstein's malformation (downward displacement), or both, with a dilated anulus. The majority of patients had restriction of the tricuspid valve apparatus and an underdeveloped anulus, usually of a severe degree. The right ventricle appeared to have normal dimensions in four patients, but the tricuspid valve and tensor apparatus, even in these patients, exhibited departures from the normal. This study suggests that in many of these patients adequate right ventricular growth will not be achieved because of inadequate right ventricular filling. This seems directly related to moderate or severe underdevelopment of the tricuspid valve.     

Possible link between right ventricular coronary sinusoids and noncompaction sinusoids in pulmonary atresia with intact ventricular septum patients that later develop left ventricular noncompaction

Patients who have pulmonary atresia with intact ventricular septum have been shown to have a number of various myocardium anomalies like ischemia, fibrosis, infarction, rupture, disarray, spongious myocardium and ventricular endocardial fibroelastosis. Multiple connections have been found between right ventricular myocardial sinusoids and small branches of intramural coronary arteries. Noncompation of ventricular myocardium has been shown to be the result of myocardial ischemia or excessive pressure preventing the reduction of embryonic sinusoids. The persistence of intertrabecular recesses that are connected to both the ventricular cavity and coronary circulation is the result of this process. In this text, we describe a PA-IVS patient who underwent patent ductus arteriosus stenting and pulmonary valve perforation to create antegrade flow and later developed left ventricular noncompaction. We posit that there is a connection between right ventricular coronary sinusoids and noncompaction sinusoids. As our patient’s RV outflow tract stenosis and RV pressure increased, the coronary circulation connected to coronary sinuses became sufficient and LV function improved, which further supports our hypothesis.     

胎儿后颅窝池扩张在产前超声诊断中的意义

目的探讨胎儿后颅窝池扩张（ECM）（≥10 mm）在产前诊断中的意义。方法对胎儿ECM 66例（0.42%）进行观察分析,21例行染色体检查,继续妊娠者追踪产后情况。结果胎儿ECM以妊娠29～32w最多见（31/66,47.0%）;胎儿CM扩张程度与结构畸形的发生率呈正比,其差异有统计学意义（P〈0.005）;发现3例18-三体,均合并结构畸形,其中2例Dandy-Walker畸形;未合并结构畸形ECM除2例（≥15mm）出现轻度脑发育迟缓,余生长发育未见明显异常。结论胎儿ECM于孕中晚期出现并以29～32w多见;CM扩张程度越大,畸形的发生率越高;合并结构畸形尤其是Dandy-Walker畸形可能与18-三体有关;不合并结构的ECM胎儿预后尚好。     

胎儿先天性神经管畸形的超声诊断及临床价值

目的探讨超声诊断胎儿先天性神经管畸形的临床价值。方法对44860例在14～40孕周的孕妇进行超声检查。结果经超声检查发现胎儿先天性神经管畸形84例,主要有无脑儿、脑积水、脊柱裂、脑脊膜膨出、Dandy-Walker畸形、全前脑畸形等类型。结论超声检查可作为诊断胎儿先天性神经管畸形的首选方法。     

Pulmonary atresia with intact ventricular septum and hypoplastic right heart in sibs: a single gene disorder?

We report on 2 sisters with hypoplastic right heart and pulmonary atresia. The first sib was found to have pulmonary atresia, intact ventricular septum, and hypoplastic right heart after delivery. Fetal echocardiography at 22 weeks of gestation during the second pregnancy documented the same cardiac abnormalities. Autopsy findings in the fetus confirmed the echocardiographic findings. No other malformations were detected in either case, and no other affected relatives were identified. We suggest that this rare congenital heart defect may, in some cases, be an autosomal recessive trait.