产前超声诊断胎儿膈疝病例分析

目的:探讨胎儿先天性膈疝在产前超声检查中声像图特点并总结产前超声筛查结果及妊娠结局。方法:回顾性收集2017年1月—2022年1月天津市中心妇产科医院收治的61例首诊可疑先天性膈疝的胎儿。所有患者均进行产前超声检查,分析其产前超声声像图特点、发生时间、合并异常及妊娠结局。结果:61例产前超声可疑胎儿膈疝病例中,以胎儿胃泡位置异常为首发线索筛查出膈疝43例(70.5%);以心脏移位、腹腔内胃泡位置为首发线索筛查出膈疝4例(6.6%);以肝脏为首发线索筛查出膈疝6例(9.8%);以肠管为首发线索筛查出膈疝8例(13.1%);其中左侧45例(73.8%),右侧8例(13.1%);双侧8例(13.1%),合并其他结构异常16例(26.2%);肺头比(LHR)范围0.21～4.93。妊娠结局:61例超声检查后继续妊娠5例,死亡1例,存活4例。结论:产前超声检查可通过特异性声像图特点,准确诊断胎儿先天性膈疝,通常首发检查线索为胎儿胃泡位置及形态发生异常、胎儿胸腔内发现异常回声、心脏移位等,发现并诊断胎儿膈疝的符合率较高,产时干预和及时救治可提高先天性膈疝胎儿的生存率,改善妊娠结局。因此,产前超声检...     

四切面联合应用产前超声检查胎儿先天性膈疝

目的探讨产前超声四切面的联合应用对胎儿先天性膈疝的诊断价值。方法使用常规超声扫查31例胎儿的全身及附属结构,并测量生长指标,再应用产前超声四切面(四腔心切面、膈肌斜冠状面、左肾长轴切面、腹围切面)判断胸腔情况。结果 31例胎儿先天性膈疝,平均检出时间为孕22.9周,其中28例为左侧,3例为右侧;单纯胎儿先天性膈疝3例,合并其他畸形18例;心脏偏移27例。结论产前超声四切面的联合应用能及早诊断胎儿先天性膈疝,为临床进一步产前咨询提供帮助。     

胎儿四腔心切面关联腹部经胃泡横切面在产前超声检查中的价值

目的探讨产前超声检查胎儿四腔心切面关联胃泡平面对胎儿发育异常的诊断价值。方法使用超声对4 300例中晚孕孕妇进行超声扫查,重点关联扫查胎儿四腔心切面及胃泡平面。发现异常后请上级医院会诊及电话随访。结果胎儿四腔心切面及腹部经胃泡横切面可全部显示。发现十二指肠闭锁5例,先天性膈疝2例,心脏异常12例,持续右脐静脉4例,部分内脏异位2例。结论胎儿腹部经胃泡横切平面及四腔心切面对于判断胎儿心脏位置,下腔静脉、主动脉位置及相互关系有重要价值;胃泡的形态及位置改变对膈疝、持续右脐静脉、胃十二指肠闭锁等有显著意义。     

胎儿胃泡产前超声形态学表现及其临床意义

目的:探讨胎儿胃泡产前超声形态学表现在筛选胎儿消化道异常中的临床价值。方法:应用彩色多普勒超声测量胎儿胃泡长径、前后径、L/W比值,对疑似消化道异常胎儿进行严密随访观察。结果:本组共检测1 189例妊娠13~42周胎儿,发现6例胎儿胃泡位置异常,为先天性隔疝畸形;9例"双泡征",为十二指肠闭锁;空回肠闭锁7例,其中2例表现为大胃泡;4例小胃泡或无胃泡,出生后消化系统未见异常。结论:胎儿胃泡超声形态学改变可以筛选一些胎儿消化道畸形,有助于指导产科医生处理。     

产前超声诊断胎儿先天性膈疝的价值

目的 探讨产前超声对胎儿先天性膈疝的诊断价值.方法 回顾分析经解剖证实的10例胎儿先天性膈疝的声像图资料,总结其声像图特点.结果 左侧膈疝9例,右侧膈疝1例.9例显示左侧胸腔占位病变伴心脏向右侧胸腔移位,1例显示右侧胸腔占位病变伴心脏向左侧胸腔移位.7例左侧胸腔内显示胃泡回声,1例腹腔内显示胃泡回声,2例胸、腹腔内均末显示胃泡回声.10例均显示心脏不同程度向前胸侧移位,左心房与降主动脉及脊柱分离.10例中合并羊水过多7例,其中3例伴有其他脏器畸形.结论 产前超声对诊断胎儿先天性膈疝具有重要价值.     

超声与MRI在先天性膈疝产前诊断中的应用价值

目的探讨超声与MRI在先天性膈疝产前诊断的应用价值。方法选取我院经引产或出生后检查证实的先天性膈疝70例,经胸腹部多切面和系统超声检查观察是否合并其他异常。并与MRI胸腹部冠状面、矢状面及横断面扫描结果进行对照分析。结果胎儿左侧膈疝58例,右侧膈疝12例,单发性膈疝51例,合并羊水过多9例,合并其他结构异常19例,合并心脏发育异常7例;经产前超声诊断69例,诊断符合率为98.57%;漏诊1例,后经MRI证实。结论超声能够较准确地诊断先天性膈疝,是常规产科筛查的首选,MRI有利于进一步明确诊断。     

产前超声评估先天性膈疝预后

目的 探讨产前超声在先天性膈疝预后评估中的应用价值。方法 分析65例出生后经手术或随诊证实为先天性膈疝的胎儿的产前超声声像图特征,测量胎儿健侧肺的肺头比（LHR）、与该孕周正常胎儿的LHR进行比较,计算O/E LHR,探讨其与新生儿预后的关系。结果 65例中,45例出生后行手术治疗后存活,8例手术后死亡,12例未行手术即死亡,总死亡率30.77%（20/65）。肝上型膈疝死亡率66.67%（8/12）;肝下型膈疝死亡率22.64%（12/53）。合并其他结构异常共9例,死亡8例,其中6例合并胸腔内结构异常。LHR为0.40~2.72,平均1.59±0.69;不同LHR膈疝胎儿出生后死亡率差异有统计学意义（χ²=19.360,P<0.001）,LHR≤1.0的膈疝胎儿出生后死亡率高于LHR>1.0的膈疝胎儿。O/E LHR为23%~90%,平均（58.25±17.61）%,不同O/E LHR膈疝胎儿出生后死亡率差异有统计学意义（χ²=15.261,P=0.002）,O/E LHR≤45%的膈疝胎儿出生后死亡率高于O/E LHR>45%的膈疝胎儿。结论 产前超声可用于诊断胎儿先天性膈疝,并评估健侧肺的发育情况及患儿预后。     

矢状切面在妊娠早期超声筛查胎儿腭裂中的价值

目的探讨矢状切面在妊娠早期超声筛查胎儿腭裂中的价值。 方法回顾性选择2018年1月至2019年12月广东省妇幼保健院的31例妊娠早期腭裂的胎儿,分析头颈部超声检查矢状切面的异常征象,总结不同类型腭裂在矢状切面的超声表现以及其他结构异常情况。 结果（1）超声声像图表现：28例出现上颌骨间隙（90.3%,28/31）,其中14例为单侧腭裂,5例为双侧腭裂,9例为正中腭裂;27例表现为缺失“重叠线征”（87.1%,27/31）,其中正中腭裂5例,单侧腭裂15例,双侧腭裂6例,单纯腭裂1例;6例颌骨前突（19.4%,6/31）,均为双侧唇腭裂。（2）合并其他结构异常情况：妊娠早期及妊娠中期诊断腭裂病例中,合并胎儿结构异常分别占75.0%（15/20）、45.5%（5/11）,颈项透明层增厚分别占60.0%（12/20）、36.4%（4/11）。 结论矢状切面上颌间隙和缺失“重叠线征”是妊娠早期筛查胎儿腭裂的重要线索,颌骨前突是双侧腭裂的特征性超声表现。     

8例先天性横膈疝的产前超声检查分析

目的 探讨胎儿先天性横隔疝的超声表现,方法 利用二维超声（2D）和彩色多普勒血流图（CDFI）,仔细观察分析胎儿各超声切面图像及分析胎儿脐动脉血流流速曲线参数。结果 胎儿胃泡移至胸腔可作为超声诊断膈疝的主要依据。同时常碰到一些特殊表现和伴有其他畸形情况。结论 超声可作为先天性横膈疝诊断的首选检查项目。     

先天性膈疝106例产前超声表现及其临床意义分析

目的：探讨先天性膈疝（CDH）产前超声声像图表现及其临床意义。方法：回顾性分析2001/2009年三家医院所检测出的106例CDH声像图表现及多普勒血流特征,并与分娩后新生儿科检查或胎儿尸体解剖检查进行对照。结果：左侧膈疝97例,右侧膈疝9例。CDH声像图表现胎儿心脏、纵隔受压移位,疝入器官见有胃泡、肠管、肝脏,且疝入的肠管见有蠕动。胎儿呼吸样运动可致疝入器官运动幅度增加。结论：超声在CDH检查中有较高的特征性声像图表现,认真细致的检查可减少误诊的发生。     

Congenital diaphragmatic hernia: evaluation of prenatal diagnosis in 20 European regions.

OBJECTIVE: To evaluate prenatal diagnosis of congenital diaphragmatic hernia by ultrasound in well-defined European populations. DESIGN: Data from 20 registries of congenital malformations in 12 European countries were included. The prenatal ultrasound screening programs in the countries ranged from no routine screening to three ultrasound investigations per patient being routinely performed. RESULTS: There were 187 cases with congenital diaphragmatic hernia, with an overall prenatal detection rate of 59% (110/187). There was considerable variation in prenatal detection rate between regions. There was a significant difference in the detection rate of isolated congenital diaphragmatic hernia (59/116, 51%) compared with congenital diaphragmatic hernia associated with multiple malformations, karyotype anomalies or syndromes (51/71, 72%) (P = 0.01). Termination of pregnancy was performed in 39 cases (21%) of which 14 cases were isolated congenital diaphragmatic hernia. Mean gestational age at discovery was 24.2 weeks (range, 11-38 weeks). CONCLUSIONS: The overall prenatal detection rate of congenital diaphragmatic hernia is high (59%) but varies significantly between European regions. The gestational age at discovery was greater than 24 weeks in half of the prenatally diagnosed cases.     

系统产前超声检查在双胎妊娠产前筛查中的应用价值

目的探讨系统产前超声检查在双胎妊娠产前筛查中的应用价值。 方法对2012年10月至2017年12月在咸阳市妇幼保健院进行系统产前超声检查的393例双胎妊娠资料进行回顾性分析,将其中27例双胎妊娠畸形病例纳入研究。通过将双胎妊娠畸形病例产前超声检查资料与随访及病理解剖结果进行对比,分析双胎妊娠系统产前超声检查胎儿畸形检出率及诊断符合率。 结果纳入研究的27例双胎妊娠畸形病例中19例为胎儿结构畸形,8例为双胎妊娠特有畸形。19例胎儿结构畸形均为双胎之一胎儿的单一畸形,8例双胎妊娠特有畸形多为两个胎儿同时受到累及。系统产前超声检查检出17例胎儿结构畸形和8例双胎妊娠特有畸形均与病理诊断符合,系统产前超声检查诊断符合率100%（25/25）;漏诊胎儿结构畸形2例,胎儿畸形检出率92.6%（25/27）。 结论系统产前超声检查应用于双胎妊娠产前筛查有较高的畸形检出率及诊断符合率,具有重要的临床应用价值。     

胎儿先天性肺囊腺瘤样畸形超声声像图特征及预后分析

目的：探讨胎儿先天性肺囊腺瘤样畸形（CCAM）超声声像图特征,为胎儿临床结局评估提供依据。方法分析21例产前超声诊断为胎儿CCAM的超声声像图特征,并与产后CT、手术及随访结果进行对照。结果（1）21例胎儿CCAM产前超声声像图特征：CCAMⅠ型2例（10%,2/21）,CCAMⅡ型13例（62%,13/21）,CCAMⅢ型6例（28%,6/21）;位于一侧胸腔20例（95%,20/21）,双侧胸腔1例（5%,1/21）;首次检出胎儿CCAM的孕周为18＋4~25＋4周,中位孕周为22＋6周;胎儿CCAM体积与头围比（CVR）＜1.6者16例（76%,16/21）,CVR＞1.6者5例（24%,5/21）;动态观察病灶达最大体积后维持不变8例（38%,8/21）,达最大体积后逐渐缩小13例（62%,13/21）（其中消失5例）。（2）合并症：19例（90%,19/21）出现伴发症状或合并其他结构畸形,均伴发纵隔移位,羊水过多6例,膈疝1例,肺隔离症1例,胎儿水肿1例。（3）随访结果：16例产前超声检查与出生后胸部CT结果相符,其中9例经手术及病理证实;1例引产者与尸体解剖病理诊断符合;余4例产前超声动态复查提示肿块缩小,无合并症,出生后未行检查及治疗。（4）临床预后：19例（90%,19/21）预后良好,1例合并胎儿水肿者孕妇选择性终止妊娠,1例合并膈疝者出生后1d死亡。结论产前超声检查是诊断胎儿肺囊腺瘤的首选和可靠的方法,产前动态超声检查是评估及预测胎儿CCAM预后的关键,单纯CCAM预后良好。     

新生儿期膈疝的超声表现及诊断价值

目的探讨新生儿期膈疝的超声声像图特点。 方法选择2000年1月至2017年12月首都医科大学附属北京儿童医院超声及手术病理检查确诊为新生儿期膈疝的患儿19例,平均出生（12.8±11.7）d,其中3例产前已诊断膈疝,11例表现为呼吸困难,3例表现为呕吐,2例表现为心动过速。总结19例新生儿超声声像图特点。 结果19例新生儿膈疝术前超声显示自左侧胸腔内疝入小肠4例,胃底2例,脾脏3例,1例疝入物为左侧肾上腺及左肾上极;右侧胸腔内疝入肠管3例,4例疝入物为部分肝脏右叶及胆囊,2例疝入物为右肾上腺及右肾。食道裂孔疝疝入物均为胃。后外侧疝表现为膈肌不连续,位于腹腔内或腹膜后的脏器通过不连续的膈肌进入胸腔水平。食道裂孔疝表现为胃体通过食管裂孔疝入胸腔。术前超声诊断后外侧疝16例,食道裂孔疝2例,1例膈疝与膈膨升不能鉴别。与术前相关影像及手术检查结果对照,术前超声诊断符合率为94.74%（18/19）。 结论新生儿期患儿胸壁软组织薄,超声检查可清晰实时多角度显示膈肌情况,诊断符合率不低于CT或磁共振成像,且无放射性损伤,是新生儿期膈疝患儿首选的影像学检查方法。     

胎儿侧脑室扩张程度与妊娠结局

目的回顾性分析胎儿侧脑室扩张的妊娠结局与预后,并分析超声与MRI在侧脑室扩张诊断中的一致性,进一步探讨超声报告中提示需进一步临床咨询的侧脑室临界值。 方法选择2015年1月至2016年12月年深圳市人民医院100例超声诊断为侧脑室扩张或脑积水的单胎连续病例作为观察组,按侧脑室宽度,分为轻度扩张组（＞10,≤12 mm;59例）、中度扩张组（＞12,≤15 mm;24例）和重度扩张组（＞15 mm;17例）。根据是否合并侧脑室扩张以外的病变,分为孤立性侧脑室扩张（IVM）组51例和非孤立性侧脑室扩张（NIVM）组49例。另选择同期141例侧脑室宽度＞8 mm,≤10 mm单胎连续病例作为对照组。记录上述病例的临床、实验室、MRI资料及妊娠结局,使用χ²检验分析轻度扩张组、中度扩张组、重度扩张组及对照组间,以及IVM与NIVM组间的妊娠结局与预后是否有差异。采用Kappa检验分析超声与MRI在诊断侧脑室扩张中的一致性。采用受试者操作特征（ROC）曲线分析诊断侧脑室扩张的截断值。 结果（1）轻度扩张组、中度扩张组、重度扩张组和对照组出生阳性率分别为6.5%（3/46）、22.2%（2/9）、60.0%（3/5）和5.5%（7/128）,差异具有统计学意义（χ²=22.148,P=0.001）;IVM和NIVM组异常妊娠结局率分别为33.3%（17/51）、63.3%（31/49）,结局差异具有统计学意义（χ²=8.970,P=0.005）。（2）共36例行产前和（或）产后MRI检查,与超声相符率为77.8%（28/36）,补充诊断率为19.4%（7/36）。超声与MRI在诊断侧脑室扩张中的一致性一般（Kappa值=0.543,P=0.001）。（3）ROC曲线分析出超声提示的侧脑室诊断截断值为9.7 mm。 结论侧脑室扩张越严重,胎儿预后越差;NIVM比IVM预后差。超声与MRI在诊断侧脑室扩张中一致性一般,但MRI对某些类型的异常（如皮质,白质和颅内出血）的补充检出率更高。产前超声是诊断侧脑室扩张的重要手段,侧脑室宽度＞9.7 mm时,应提示进一步产前咨询。     

Prenatal diagnosis of severe structural congenital malformations in Europe.

OBJECTIVES: To assess at a population-based level the frequency with which severe structural congenital malformations are detected prenatally in Europe and the gestational age at detection, and to describe regional variation in these indicators. METHODS: In the period 1995-1999, data were obtained from 17 European population-based registries of congenital malformations (EUROCAT). Included were all live births, fetal deaths and terminations of pregnancy diagnosed with one or more of the following malformations: anencephalus, encephalocele, spina bifida, hydrocephalus, transposition of great arteries, hypoplastic left heart, limb reduction defect, bilateral renal agenesis, diaphragmatic hernia, omphalocele and gastroschisis. RESULTS: The 17 registries reported 4366 cases diagnosed with the 11 severe structural malformations and of these 2300 were live births (53%), 181 were fetal deaths (4%) and 1863 were terminations of pregnancy (43%); in 22 cases pregnancy outcome was unknown. The overall prenatal detection rate was 64% (range, 25-88% across regions). The proportion of terminations of pregnancy varied between regions from 15% to 59% of all cases. Gestational age at discovery for prenatally diagnosed cases was less than 24 weeks for 68% (range, 36-88%) of cases. There was a significant relationship between high prenatal detection rate and early diagnosis (P < 0.0001). For individual malformations, the prenatal detection rate was highest for anencephalus (469/498, 94%) and lowest for transposition of the great arteries (89/324, 27%). Termination of pregnancy was performed in more than half of the prenatally diagnosed cases, except for those with transposition of the great arteries, diaphragmatic hernia and gastroschisis, in which 30-40% of the pregnancies with a prenatal diagnosis were terminated. CONCLUSION: European countries currently vary widely in the provision and uptake of prenatal screening and its quality, as well as the "culture" in terms of decision to continue the pregnancy. This inevitably contributes to variation between countries in perinatal and infant mortality and in childhood prevalence and cost to health services of congenital anomalies.     

超声和MRI联合应用诊断胎儿胸部异常

目的对比分析二维超声(2DUS)和磁共振成像(MRI)在胎儿胸部异常诊断中的应用价值及各自的优势与劣势,探讨超声和MRI联合应用诊断胎儿胸部异常的临床价值。方法 42例超声诊断为胸部异常(不包括心脏畸形)的胎儿,征得患者同意在接受超声检查后24 h内行MRI检查,最终诊断由产后尸检或生后随访证实。回顾性分析42例胎儿的超声和MRI图像,并与随访结果对照。结果 42例胸部异常包括先天性肺囊腺瘤畸形(CCAM)19例,隔离肺(BPS)9例,先天性膈疝(CDH)11例,先天性高位气道闭锁综合征(CHAOS)1例,膈膨升1例,胸腺增大1例。超声检出并正确诊断例数为38例(38/42),MRI检出并正确诊断例数为39例(39/42)。超声和MRI对胎儿胸部异常检出例数比较差异无统计学意义(P0.05)。结论虽然超声和MRI在胎儿胸部异常检出例数方面无差异,但其各有优劣势,超声和MRI联合应用在部分病例中可综合评价胸部异常引起的继发改变,如超声可动态观测患儿心功能状态,MRI可明确病灶界限及评价肺发育情况。     

胎儿畸形的产前超声诊断分析

【目的】探讨产前超声对胎儿畸形的诊断价值。【方法】对2005年1月至2009年12月共15734例中晚期孕妇进行超声筛查,观察胎儿畸形的声像图特征,对胎儿畸形进行诊断。【结果】发现296例胎儿畸形（1．88％）,其中神经系统畸形86例（29．05％）,泌尿系畸形46例（15．54％）,唇腭裂34例（11．49％）,胎儿先天性心脏病32例（10．81％）,前腹壁异常25例（8．45％）,颈部水囊瘤20例（6．76％）,骨骼系统畸形18例（6．08％）,消化系统畸形17例（5．74％）,胎儿腹腔囊肿12例（4．05％）,先天性膈疝4例（1．35％）,联体双胎2例（0．67％）,与产后及引产后对照,诊断符合率97％。【结论】产前超声检查对诊断胎儿畸形有着重要价值,是其产前诊断的首选方法。     

产前超声诊断胎儿先天性膈疝

目的探讨超声诊断胎儿先天性膈疝的临床价值。方法回顾分析27例经引产或产后证实为先天性膈疝胎儿的产前超声资料。结果胎儿先天性膈疝27例,产前超声准确诊断24例,3例漏诊,合并其他畸形9例。结论超声在产前能较准确地诊断胎儿先天性膈疝,对优生、降低畸形儿的出生有重要的临床价值。     

Esophageal obstruction-prenatal detection rate and outcome.

OBJECTIVE: Prenatal diagnosis of esophageal obstruction is believed to improve the outcome for the affected newborn. However, the prenatal detection rate is only 10-40%, the diagnosis is usually not made before the third trimester and the false-positive rate has been high. This study investigated the prenatal detection rate and time of prenatal diagnosis at our center and its influence on outcome. In addition, incidence, detection rate and accuracy of the diagnosis in a large non-selected population were determined. METHODS: All cases diagnosed pre- or postnatally with esophageal obstruction and examined prenatally by ultrasound at the National Center for Fetal Medicine in Norway during 1987-2004 were evaluated. RESULTS: Of 48 cases with esophageal obstruction, 21 (44%) were diagnosed prenatally (median, 32 + 0 weeks). All 21 had a small or empty stomach, 20/21 (95%) had polyhydramnios and 9/21 (43%) had a visible esophageal pouch. Associated anomalies were present in 38/48 cases (79%). The karyotype was abnormal in 11/48 cases (23%). Ten (21%) pregnancies with lethal fetal conditions were terminated. Two fetuses died in utero. Ten infants with associated anomalies died within 3 months after birth. The 26/48 (54%) survivors included 16/21 cases with a prenatal diagnosis of esophageal obstruction and 9/10 cases with isolated esophageal obstruction. CONCLUSIONS: The clinical signs of polyhydramnios were the most important factors for prenatal detection of esophageal obstruction. Consequently, the time of diagnosis was late and the detection rate was low (44%). An increased awareness of the possibility of esophageal obstruction, leading to targeted examinations whenever the suspicion is raised during pregnancy, might improve the prenatal detection rate and thereby provide a possibility to improve the outcome. Of the cases with isolated esophageal obstruction, 90% survived, irrespective of prenatal diagnosis.