早、中孕联合超声筛查诊断胎儿异常

目的 评估早、中孕联合超声筛查诊断胎儿异常的临床价值。方法 对2844名孕11~13⁺⁶周的孕妇(共3135胎)行孕早期超声筛查,测量颈项透明层厚度(NT),重点观察胎儿颅脑横切面,多切面观察胎儿主要脏器及形态结构。对继续妊娠的2865胎,在孕18~24周行孕中期胎儿结构筛查;孕32周超声监测胎儿生长发育。对所有新生儿进行随访。结果 孕早期超声筛查在3135胎中检出153胎(153/3135,4.88%)异常,包括NT增厚20胎、胎儿水肿25胎、胎死宫内75胎、露脑畸形9胎、脐疝2胎、巨膀胱2胎、肢体发育异常2胎、多发畸形5胎、联体双胎1胎、单脐动脉12胎。孕中期超声筛查在2865胎中检出66胎(66/2865,2.30%)异常,包括胎儿水肿6胎、中枢神经系统异常13胎、颜面部畸形3胎、心脏异常11胎、膈疝1胎、脐疝2胎、肢体异常1胎、泌尿系统异常9胎、多发畸形1胎、胎儿生长受限5胎、脐带异常14胎。结论 孕早期超声筛查能早期检出部分严重、早发的胎儿异常,但不能替代孕中期超声筛查。     

产前超声诊断胎儿先天性膈疝合并畸形的临床价值

目的探讨产前超声诊断胎儿先天性膈疝及合并畸形的临床价值。方法选取我院确诊的先天性膈疝胎儿75例为病例组,与病例组相同孕周的正常胎儿40例作为正常对照组,回顾性分析病例组胎儿超声表现及其合并畸形情况,测量其健侧肺的肺-头围比(LHR),并比较两组大脑中动脉峰值流速、博动指数、阻力指数和脐动脉收缩末期与舒张末期血流峰值比值(S/D)。结果病例组75例胎儿中,左侧膈疝68例,右侧膈疝7例;单纯性膈疝40例,膈疝合并其他畸形35例,其中合并心血管系统畸形最常见,其次是神经系统、泌尿系统及骨骼系统等。病例组胎儿LHR1.6者33例,合并其他畸形13例;LHR1.0者20例,合并其他畸形14例;LHR在1.0～1.6者22例,合并其他畸形8例。病例组大脑中动脉峰值流速为(29.03±0.22)cm/s,低于正常对照组(42.11±0.17)cm/s,差异有统计学意义(P0.001);两组大脑中动脉搏动指数、阻力指数和胎心率、脐动脉S/D值比较,差异均无统计学意义。结论产前超声可以准确诊断先天性膈疝及其合并畸形类型,了解膈疝胎儿健侧肺的LHR及大脑中动脉血流情况,可为膈疝胎儿产前管理及生后干预提供更多的参考信息。     

标准化超声切面筛查孕11～13^＋6周胎儿结构畸形的临床意义

目的探讨孕早期标准化超声切面筛查胎儿结构畸形的临床意义。方法应用8个标准化超声切面对2008年9月至2011年3月在首都医科大学附属北京妇产医院超声检查的3134例孕11～13^＋6周胎儿进行筛查。8个标准化超声切面包括：胎儿纵切面、颈项矢状切面、颅脑切面、胸部切面、腹部切面、膀胱切面、上肢和下肢切面。孕早期未发现异常的胎儿均于孕20-24周及28～32周进行超声检查,追访胎儿妊娠结局。结果3134例胎儿超声筛查及随访结果：（1）孕早期（11～13^6＋周）超声筛查诊断胎儿异常16例,包括部分颅骨缺损、脑膜脑膨出1例,心内膜垫缺损合并单脐动脉1例,胸外心、腹裂合并脊柱异常1例,露脑畸形2例,无脑畸形1例,腹裂合并下肢畸形1例,脐膨出2例,部分颅骨缺损、胸外心合并腹裂1例,单心室1例,心内膜垫缺损1例,胎儿水肿4例。超声筛查后16例异常胎儿中引产13例,大体标本及尸检与超声筛查结果相符合;3例水肿胎儿在孕中晚期超声筛查中未见异常表现,出生后未见异常。（2）孕中期（20-24周）超声筛查诊断胎儿结构畸形7例,包括右位心伴右心室双出口1例,心内膜垫缺损2例,室间隔缺损1例（羊水穿刺证实染色体核型为21-三体）,脐膨出1例,尺桡骨短伴腕关节畸形1例,足内翻1例。（3）孕晚期（28～32周）超声筛查诊断胎儿膈疝1例：出生后诊断新生儿心脏室间隔缺损1例,耳畸形1例。（4）胎儿出生后随访到2822例（90％,2822／3134）,失访312例（10％,312／3134）。2822例随访结果证实,孕早、中、晚期超声标准切面筛查诊断胎儿单发或多发严重结构畸形与产后检查结果相符合23例：其中孕早期标准化超声切面筛查诊断胎儿严重结构畸形13例：超声诊断敏感度56．5％（13／23）,特异度99．9％（2796／2799）,符合率99．6％（2812／2822）;漏诊率43．5％（10／23,4例心脏畸形,1例脐膨出,2例肢体双足畸形;1例膈疝均于孕中晚期连续筛查检出,2例畸形出生后诊断）。结论孕早期标准化超声筛查切面能检出露脑、无脑、腹裂、脐膨出、胸外心及单心室等严重胎儿畸形。但孕早期超声筛查胎儿畸形有一定局限性,对复杂性心脏大血管畸形、肢体等畸形需待孕中晚期超声检查时诊断。因此,建立孕早、中、晚期连续动态筛查系统非常必要。     

产前超声在胎儿先天性膈疝诊断中的应用

目的探讨产前超声检查在胎儿先天性膈疝诊断中的应用价值。方法回顾性分析20例CDH胎儿的超声资料,并与引产后尸体解剖结果及手术结果进行对照分析。结果20例CDH中,产前超声检出19例,平均检出时间26.1周。左侧膈疝15例,右侧膈疝4例。8例合并其他畸形。其中合并消化系统畸形3例,生殖泌尿系统畸形2例,心血管系统畸形2例,骨骼系统畸形1例。漏诊1例。结论产前超声检查对CDH的筛查有重要的临床价值。     

纵膈移动角及心脏纵膈移动角在评估胎儿左侧膈疝中的方法学研究

目的探讨纵膈移动角(MSA)及心脏纵膈移动角(CMSA)这一简便方法在评估胎儿单纯左侧膈疝中的价值。方法回顾性分析68例我院产前超声诊断为左侧膈疝胎儿及100例相应孕周正常胎儿声像图特征,在四腔心切面测量纵膈移动角度MSA及CMSA,以胎儿肺头比值(LHR)为参考标准,对比分析左侧膈疝及正常胎儿MSA及CMSA。按照LHR不同将左侧膈疝胎儿分为LHR≤1.0组,1.0LHR≤1.4组和LHR1.4组,对比三组MSA和CMSA,统计分析MSA及CMSA在左侧膈疝胎儿预后评估中的作用。结果与对应孕周的正常胎儿相比,左侧膈疝胎儿MSA及CMSA角度测量结果均较正常胎儿测值大,差异有统计学意义(P0.05),LHR≤1.0组MSA 95%置信区间为(41.30,46.65),CMSA为(38.69,44.06),1.0LHR≤1.4组MSA 95%置信区间为(32.86,36.46),CMSA为(31.04,34.04),LHR1.4组MSA 95%置信区间为(31.43,32.46),CMSA为(30.44,31.74); LHR≤1.0组与LHR1.4组首次诊断孕周上具有统计学差异(P0.05),LHR,O/E LHR, MSA在三组膈疝胎儿中两两比较均具有统计学差异。CMSA角度测量1.0LHR≤1.4组与LHR1.4组测量相比无统计学差异(P0.05)。统计学分析提示,不同LHR组MSA及CMSA与LHR测值呈显著线性负相关。结论 MSA及CMSA作为快速测量方法,与LHR有呈显著线性负相关,可作为简便评估方法初步筛查,并联合LHR指标共同评估胎儿左侧膈疝。     

产前MRI预测先天性膈疝胎儿出生并接受治疗后转归

目的 观察产前MRI预测先天性膈疝(CDH)胎儿出生并接受治疗后转归的价值。方法 回顾性分析55胎经产前超声及MRI诊断CDH胎儿(CDH组)及同期55胎孕周与CDH组匹配、经产前超声排除膈疝及其他消化系统畸形胎儿(非CDH组),记录妊娠结局及出生后治疗情况，根据出生并接受治疗后是否存活将CDH组分为存活亚组及死亡亚组；比较组间预估肺体积比(PPLV)和理想肺体积比，以及CDH组内亚组间胎儿一般资料和产前MRI所见的差异。采用二元logistic回归分析影响CDH胎儿出生并接受治疗后转归的因素；绘制受试者工作特征(ROC)曲线，计算曲线下面积(AUC),评估PPLV预测CDH胎儿出生并接受治疗后转归的效能。结果 组间不同孕周胎儿PPLV差异有统计学意义(P均<0.05),而理想肺体积比差异无统计学意义(P均>0.05)。CDH组出生后41例接受治疗后存活、14例死亡，亚组间分娩时孕周、出生后住院时间及产前MRI是否显示疝囊、肝脏疝入与否、双肺体积及PPLV差异均有统计学意义(P均<0.05)。分娩时孕周和PPLV均为CDH胎儿出生并接受治疗后转归的独立影响因素(P均&...     

孕早、中期人体鱼序列征胎儿超声表现

目的 观察孕早、中期人体鱼序列征胎儿超声表现。方法 回顾性分析22胎经引产证实的人体鱼序列征胎儿超声表现，对比观察孕早、中期差异。结果 22胎中，9胎于孕早期诊断，超声表现为羊水量正常或略少，胎儿双下肢融合、足缺如或发育不良及单脐动脉起自高位腹主动脉，其中5胎双足并腿畸形、1胎单足并腿畸形，3胎无足并腿畸形，8胎(8/9,88.89%)合并其他结构畸形；13胎于孕中期诊断，超声表现为无羊水或羊水过少，胎儿双下肢融合、单脐动脉起自高位腹主动脉、肾脏发育不良，膀胱均未显示，其中4胎双足并腿畸形、3胎单足并腿畸形，6胎无足并腿畸形，9胎(9/13,69.23%)合并其他结构畸形。结论 人体鱼序列征胎儿孕早、中期典型超声表现包括并腿畸形及单脐动脉起自高位腹主动脉；孕早期羊水充足，为最佳诊断时机。     

产前超声检查诊断胎儿先天性膈疝

目的 探讨产前超声检查诊断胎儿先天性膈疝中的应用价值。方法 回顾性分析52胎先天性膈疝胎儿的声像图表现,将产前超声诊断结果与出生后检查、手术或引产后病理结果相对照。结果 52胎先天性膈疝中产前超声诊断正确50胎,漏诊2胎。其中,左侧膈疝45胎(45/52,86.54%),右侧膈疝7胎(7/52,13.46%);合并其他结构异常22胎(22/52,42.31%),合并羊水过多34胎(34/52,65.38%)。结论 产前超声检查可较准确地诊断胎儿先天性膈疝,具有重要的临床应用价值。     

泄殖腔外翻综合征前腹壁异常的产前超声诊断

目的总结胎儿泄殖腔外翻（OEIS）综合征前腹壁畸形产前超声声像图特征。 方法回顾性分析2008年1月至2017年3月湖北省妇幼保健院产前超声诊断的45例（46胎）OEIS综合征前腹壁异常胎儿超声声像图表现,并与引产胎儿标本尸检结果对比分析。 结果46胎OEIS综合征均经产后随访证实,26胎有详细的病理检查资料。OEIS综合征胎儿前腹壁畸形产前超声共同特点：胎儿膀胱未显影、低位的腹壁脐带插入处、胎儿下腹壁膨出物向胎儿两股骨间突起。根据膨出物特征46胎OEIS综合征胎儿产前超声声像图表现为5类畸形：（1）以囊性为主的混合性膨出物12胎。（2）脐下腹壁膨出物伴外翻22胎,伴象鼻征13胎。（3）下腹壁脐带根部膨出6胎。（4）大的腹裂畸形3胎。（5）脐膨出伴外翻3胎。 结论OEIS综合征胎儿前腹壁异常超声声像图表现复杂、多样,以囊性为主的混合性膨出物为OEIS综合征早期特有的超声表现,脐下腹壁膨出物伴外翻是OEIS综合征产前特征性表现。     

彩色多普勒超声在胎儿胸腔占位性病变鉴别诊断中的应用

目的探讨彩色多普勒超声在胎儿胸腔占位性病变中的鉴别诊断价值。方法回顾性分析54例胎儿胸腔占位性病变的产前超声资料,总结其声像图特征和鉴别诊断技巧。结果经产前超声发现的胸腔占位性病变54例,其中先天性膈疝(CDH)8例,先天性肺囊腺瘤畸形(CCAM)28例,隔离肺(PS)18例。灰阶声像图表现为胸腔内异常回声、心脏移位等。彩色多普勒血流显像(CDFI)探及滋养肿块的肠系膜血管、肺动脉分支、降主动脉分支分别提示CDH、CCAM、PS,尤其是探及翻转入胸腔的肠系膜血管对于胃泡位于膈下的左侧不典型膈疝提供了较为直观及准确的诊断方法。结论灰阶超声发现胎儿胸腔占位性病变后,通过CDFI追踪病灶的滋养血管有利于鉴别诊断。     

Frontomaxillary Facial Angle Measurements in Euploid Korean Fetuses at 11 Weeks' to 13 Weeks 6 Days' Gestation

Objective. The purpose of this study was to evaluate the distribution of fetal frontomaxillary facial angles in a euploid Korean population at 11 weeks' to 13 weeks 6 days' gestation. Methods. Three‐dimensional volumes of the fetal head were obtained from women with low‐risk singleton pregnancies at 11 weeks' to 13 weeks 6 days' gestation who consented to this prospective study. Only fetuses with either a normal karyotype confirmed by amniocentesis or no abnormalities after delivery were considered eligible for analysis and were characterized as euploid for the purposes of this study. Women with multiple pregnancies and those who were lost to follow‐up and fetuses with abnormal karyotypes or anomalies diagnosed in utero or postnatally were excluded. The frontomaxillary facial angle was measured twice offline by a single examiner. Cases were categorized by crown‐rump length (CRL) in 10‐mm intervals for analysis of the frontomaxillary facial angle. Results. Among 375 enrolled cases, 158 were eligible for frontomaxillary facial angle analysis. The overall mean frontomaxillary facial angle ± SD was 88.6° ± 9.7°. The mean frontomaxillary facial angle for fetuses with a CRL of 40 to 49 mm (n = 35) was 93.7°; 50 to 59 mm (n = 53), 92.6°; 60 to 69 mm (n = 36), 85.3°; and 70 to 79 mm (n = 34), 81.0°, showing an inverse relationship between the mean frontomaxillary facial angle and CRL (r = ?0.5334; P < .0001). The proportion of cases with frontomaxillary facial angles of 85° or greater was 60.8%, and that of cases with angles of 90° or greater was 37.3%. Conclusions. Ethnic differences in frontomaxillary facial angle measurements should be considered when incorporating the frontomaxillary facial angle in fetal aneuploidy screening in the Korean population.     

三维超声诊断胎儿小下颌畸形的价值

目的 应用三维超声定量检测胎儿下颌骨位置及大小,为产前诊断小下颌畸形提供理论依据。方法 采用经腹三维超声观察且比较188胎20~36孕周正常胎儿(正常组)及7胎小下颌畸形胎儿(异常组)下颌骨发育情况,测量胎儿颜面部角度及下颌骨宽度与上颌骨宽度之比,分析其与孕周的关系,并比较两组测量数据。结果 188胎中,成功测量178胎的全部下颌骨指标。正常胎儿颜面部角度为(62.37±6.23)°,与孕周无相关性(r=0.001,P=0.757),颜面部角度<49.90°诊断为颏后缩;下颌骨宽度与上颌骨宽度之比为0.98±0.09,在观察孕期内无显著变化,下颌骨宽度与上颌骨宽度之比<0.80诊断为下颌骨短小。7胎下颌骨短小且颏后缩,产前超声诊断为小下颌畸形,为产后或尸检结果证实。结论 应用三维超声测量胎儿颜面部角度及下颌骨与上颌骨宽度之比可在产前定量诊断小下颌畸形。     

三维超声测量胎儿脑干-小脑蚓部夹角和脑干-小脑幕夹角

目的 测量正常胎儿脑干-小脑蚓部夹角(BV角)和脑干-小脑幕夹角(BT角),以定量评估脑干上方小脑蚓部旋转角度和小脑幕插入角度及其与孕周的相关性.方法 应用三维超声容积对比成像技术获取221胎20~37周正常胎儿的小脑蚓部正中矢状切面图像,测量BV角与BT角;并进行重复性检验,分析其与孕周相关性.结果 BV角与BT角测量的可重复性较好,且二者与孕周均无相关(r=-0.39、0.38,P均>0.05);221胎正常胎儿的BV角的正常值范围为1.60°~19.50°,BT角的正常值范围为15.70°~47.80°.结论 BV角和BT角可作为定量衡量脑干上方小脑蚓部旋转角度和小脑幕插入角度的简单、可重复性强的参数;计算二者的正常值范围可进一步为鉴别诊断胎儿颅后窝池畸形提供帮助.     

三维超声评估胎儿心室壁体积的可行性

目的 探讨三维超声时空相关成像（STIC）及虚拟器官计算机辅助分析（VOCAL）技术评估胎儿心室壁体积的可行性。方法 测量247胎22~32⁺⁶周正常胎儿心室壁体积,采用组内相关系数（ICC）分析观察者内及观察者间一致性。测量14胎心脏异常胎儿数据进行有效性验证。结果 胎儿心脏平均室壁体积与孕周具有良好相关性,左心室壁体积=－6.542+0.339×孕周（r²=0.98）,右心室壁体积=－7.509+0.384×孕周（r²=0.74）。右心室壁体积（ICC=0.994、0.888）及左心室壁体积（ICC=0.995、0.972）的观察者内及观察者间一致性良好。14胎心脏异常胎儿中,6胎心室壁体积发生改变（小于第5或大于第95百分位数）。结论 STIC及VOCAL技术可用于估测胎儿心室壁体积的参考范围,可重复性良好。     

三维超声容积自动测量技术不同旋转步进角度测量胎儿胆囊体积

目的 探讨采用三维超声容积自动测量（VOCAL）技术不同旋转步进角度测量中晚孕期胎儿胆囊体积的一致性,并分析其与孕周的相关性。方法 对157名接受产前筛查的孕妇,采用三维超声VOCAL技术,分别选择旋转步进角度30°、18°、12°,测量胎儿胆囊体积,观察胎儿胆囊体积与孕周的相关性,并比较3种旋转步进角度测量胎儿胆囊体积的一致性。结果 30°、18°、12°旋转步进角度测得胎儿胆囊体积值均与孕周相关性高（r=0.92、0.88、0.90,P均<0.001）,且30°与18°（ICC=0.94）、30°与12°（ICC=0.97）及18°与12°（ICC=0.94）测量胎儿胆囊体积的一致性均良好。结论 采用三维超声VOCAL技术不同旋转步进角度测量胎儿胆囊体积值的一致性良好,且均与孕周高度相关。     

Use of lung-thorax transverse area ratio in the antenatal evaluation of lung hypoplasia in congenital diaphragmatic hernia

For evaluation of lung hypoplasia in congenital diaphragmatic hernia (CDH), we measured lung-thorax transverse area ratio (LT ratio), which was defined as the area of bilateral lung profiles divided by the profile area of thorax at the level of the four-chamber view of the heart, using fetal ultrasonography. LT ratio in cases with CDH was lower than that in the control group and related well to the postnatal respiratory condition. Measurement of LT ratio using fetal ultrasonography may be useful in predicting the degree of lung hypoplasia in fetuses with CDH.     

组织多普勒与脉冲多普勒超声评估妊娠期高血压状态下胎儿右心室功能

目的 对比观察组织多普勒成像(DTI)与传统脉冲多普勒(PD)测量胎儿右心室Tei指数(TI)的相关性及一致性,并探讨TI评价妊娠期高血压疾病(HDCP)状态下胎儿右心室功能的临床价值.方法 分别应用DTI和PD测量57胎妊娠期高血压疾病孕妇的胎儿(HDCP组)和60胎正常孕妇的胎儿(对照组)右心室相应的时间间期,同时测量该时刻的胎心率,用平均胎心率对各时间间期进行校正,再利用校正后的时间间期计算胎儿右心室TI.以线性相关分析和配对t检验比较两法所测TI的相关性及一致性,独立样本t检验比较两种方法所测TI的差异.结果 DTI测量HDCP组胎儿右心室TI为0.56±0.11,对照组为0.47±0.10;PD测量HDCP组胎儿右心室T1为0.52±0.09,对照组为0.45±0.09.两种方法测得的胎儿右心室TI显著相关,但DTI法所测TI高于PD法;两种方法所测HDCP组胎儿右心室TI均显著高于对照组.结论 DTI、PD法均可简单快速地测定胎儿右心室TI,两种方法所测TI尽管显著相关,但并不一致;HDCP可影响胎儿右心室功能.     

Reliability of the lung-to-head ratio in predicting outcome and neonatal ventilation parameters in fetuses with congenital diaphragmatic hernia.

OBJECTIVES: The ratio of the lung area (on the contralateral side of the hernia) to the head circumference, the lung-to-head ratio (LHR), has been proposed as a reliable tool in the assessment of the prognosis of congenital diaphragmatic hernia (CDH). An LHR < 0.6 has been associated with poor outcome whereas one > 1.4 has been associated with survival. We aimed to analyze the role of LHR in predicting fetal outcome and ventilation parameters in cases of isolated CDH in our center. METHODS: During the 40-month study period, 22 fetuses with an isolated CDH were delivered alive under optimized conditions at our perinatal center. LHR was measured at the time of diagnosis (median, 27 weeks' gestation). In addition to survival, postnatal ventilation parameters including pCO2, pO2, inspiratory O2 partial pressure, inspiratory pressure and oxygenation index were determined, as was the occurrence of pulmonary hypertension. RESULTS: The overall survival rate was 59%. The LHR was not able to predict fetal outcome reliably. There was no correlation between the liver herniation, LHR and fetal outcome. The prenatally determined lung size reflected in the LHR did not show any significant association with individual ventilation parameters. Eleven of 17 infants examined had signs of pulmonary hypertension and the LHR did not predict this condition. CONCLUSION: Our study cannot support the optimistic results reported by other groups on the use of LHR as a reliable predictor of outcome in fetuses with CDH. The LHR, as a reflection of lung size, correlates neither with survival patterns nor with various postnatal ventilation parameters.     

Fetal upper respiratory tract function in cases of antenatally diagnosed congenital diaphragmatic hernia: preliminary observations.

Fetal upper respiratory tract function was studied in five cases of antenatally diagnosed congenital diaphragmatic hernia and in 16 cases of uncomplicated pregnancy at gestational ages ranging from 27 to 38 weeks. The evaluation of fetal upper respiratory tract function was performed using ultrasonography combined with color-flow and spectral Doppler analysis. In all cases with uncomplicated pregnancy, fetal breathing-related nasal and oropharyngeal fluid flow was seen at the level of the nose. The five cases with congenital diaphragmatic hernia all demonstrated fetal breathing activity by thoracic wall movement. In four of the fetuses, perinasal fluid flow was seen by the Doppler technique. The fetus with no demonstrated perinasal flow during breathing movements died in the early neonatal period and had pulmonary hypoplasia. Observation of the fetal breathing-related nasal and oropharyngeal fluid flow in cases of antenatally diagnosed congenital diaphragmatic hernia provides a rationale to hypothesize that the absence of this phenomenon is a useful marker for prenatal prediction of pulmonary hypoplasia.