二维超声四切面法在胎儿先天性心脏病产前筛查中的价值

目的 评价二维超声四切面法,即四腔心切面、左室流出道切面、右室流出道切面和三血管平面在胎儿先天性心脏病(congenital heart disease,CHD)筛查中的价值. 方法 应用二维超声四切面法对孕21～25周的2419例胎儿进行CHD筛查,并对所有2382例活产新生儿行超声心动图检查.统计学分析采用x2检验,并计算敏感性、特异性、阳性预测值和阴性预测值. 结果 2419例胎儿中产前筛查出CHD共281例(11.62％),其中简单型CHD 245例(87.18％)、复杂型CHD 36例(12.82％).高危因素组和非高危因素组阳性率分别为13.60％(34/250)和11.39％(247/2169),差异无统计学意义(x2=1.069,P=0.301).产前四切面法筛查阳性且新生儿期超声心动图检查诊断CHD 36例,总体敏感性、特异性、阳性预测值、阴性预测值分别为12.8％、99.8％、90.0％和89.7％;诊断简单型CHD 7例,敏感性2.9％;复杂型CHD 29例,敏感性80.6％.产后新生儿诊断CHD252例,占活产新生儿总数的10.58％(252/2382),其中简单型241例,复杂型11例. 结论 二维超声产前四切面法对简单型CHD诊断敏感性较低,对复杂型CHD诊断的敏感性较高.在常规产前超声检查中加入心脏四切面法可筛查出大部分的胎儿复杂型CHD,而简单型CHD漏诊率仍较高,新生儿超声心动图普查可弥补产前CHD筛查的不足.     

胎儿先天性心脏病产前超声筛查诊断模式的评价

目的 评价胎儿先天性心脏病产前超声筛查诊断模式.方法 收集2004年2月-2007年5月复旦大学附属妇产科医院产科在孕24周前行产前诊断的11 410例孕妇,应用超声筛查其11 544例胎儿的先天性心脏病发生情况.超声筛查切面包括四腔心切面、流出道切面(包括左室流出道+三血管切面),计算不同切面诊断先天性心脏病的敏感性及特异性,并随访胎儿预后.结果 (1)11 544例胎儿中,筛查出先天性心脏病48例,漏诊6例,先天性心脏病发生率为0.47%(54/11 544).(2)四腔心切面发现胎儿先天性心脏病33例,主要为室间隔缺损18例(其中9例合并锥干异常)、房室瓣膜异常6例及左、右心不对称9例.四腔心切面诊断先天性心脏病的敏感性为61.11%(33/54),特异性为99.98%(11 488/11 490).流出道切面诊断胎儿先天性心脏病15例,包括肺动脉闭锁1例,肺动脉瓣狭窄3例,大血管错位2例,肺动脉狭窄及大血管错位1例,法洛四联症6例,肺动脉狭窄2例.四腔心切面+流出道切面诊断胎儿先天性心脏病的敏感性为B8.89%(48/54),特异性99.98%(11 488/11 490).(3)48例先天性心脏病胎儿中,有11例合并其他器官系统异常,另有11例行羊膜腔穿刺检查胎儿染色体,其中5例为21三体.结论 四腔心切面+流出道切面对胎儿先天性心脏病的产前超声筛查有较高的检出率,此产前超声筛查诊断模式在临床上诊断胎儿先天性心脏病切实可行.     

"胎儿心脏筛查指南"在产前超声筛查胎儿先天性心脏病中的应用价值

目的 探讨2006年国际妇产科超声协会公布的"胎儿心脏筛查指南"在产前超声筛查胎儿先天性心脏病中的应用价值.方法 2006年9月-2007年7月在南京大学医学院附属鼓楼医院母胎医学中心接受胎儿超声筛查的单胎孕妇5000例.平均年龄28岁(18～48岁),平均孕周27周(妊娠18～40周).以"胎儿心脏筛查指南"为标准对胎儿四腔心和左、右心事流出道及三血管切面进行扫查,对疑有心脏异常者进一步行胎儿超声心动图枪查,对确诊先天性心脏病胎儿建议羊水或脐血穿刺行染色体核型分析,终止妊娠者行胎儿尸体心脏解剖;继续妊娠者,于胎儿出生后2～6个月行超声心动图随访.结果 (1)超声筛查各切面获取率:5000例单胎孕妇中,四腔心切面获取率为97.64%(4882/5000),其中左、右心室流出道及三血管切面的获取率分别为87.69%(4281/4882)、82.51%(4028/4882)和96.29%(4701/4882).5000例孕妇中,孕中期筛查2750例,孕晚期筛查2250例,孕晚期各标准切面的获取率明显低于孕中期(P<0.05).(2)胎儿先天性心脏病发病率:4882例胎儿中最终诊断先大性心脏病73例,发病率为1.50%(73/4882),其中产前超声确诊50例(孕中期24例、孕晚期26例).超声漏诊23例,误诊1例,合并其他器官畸形18例.(3)随访结局:产前诊断为先天性心脏病的胎儿中接受尸体心脏解剖19例,均与产前超声诊断结果一致;继续妊娠者胎儿出生后接受超声心动图检查12例,其中与产前诊断符合11例,另1例产前诊断三尖瓣关闭不全,产后超声检查正常.接受染色体检查23例,染色体核型异常7例.(4)产前超声筛查的敏感性与特异性:四腔心切面确诊先天性心脏病胎儿28例,同时加入左、右心室流出道及三血管切面共诊断先天性心脏病50例,诊断的敏感性为69%(50/73)、特异性为99.98%(4808/4809),假阴性率为0.48%(23/4831),假阳性率为2%(1/51).结论 国际妇产科超声协会2006年公布的"胎儿心脏筛查指南"临床实用、易于遵循、便于操作.就最佳超声切面获得来说,孕中期(18～27周)是最佳筛查时间.胎儿四腔心和左、右心窒流出道及三血管切面同时筛查,可产前诊断69%的先天性心脏病胎儿.     

胎儿超声心动图筛查胎儿先天性心脏病的临床应用

为评价胎儿超声心动冈筛查胎儿心脏病的有效性，探讨其临床应用价值，进行了本研究。     

胎儿心脏超声对室间隔缺损的诊断价值

目的 探讨产前胎儿心脏超声检查对室间隔缺损(ventricular septal defect,VSD)的诊断价值及局限性. 方法 2009年1月1日至2010月10月31日,在复旦大学附属妇产科医院进行系统产前检查的孕妇于妊娠20～24周进行胎儿心脏超声检查,产后48 h新生儿接受心脏超声检查;引产终止妊娠者行胎儿尸体解剖以明确心脏畸形的诊断,共纳入孕妇4392例(1例双胎妊娠,胎儿4393例).计算产前超声对于VSD的检出率及漏诊率. 结果 (1)复杂性VSD检出情况:产前胎儿心脏超声检查共检出23例复杂性VSD,其中1例合并部分性心内膜垫缺损,但产后新生儿心脏超声未见异常,另22例均引产终止妊娠,引产胎儿尸体解剖证实产前诊断.(2)单纯性VSD检出情况:产前胎儿心脏超声检出16例单纯性VSD,其中15例产后新生儿心脏超声未见异常,另1例产后新生儿心脏超声证实为单纯性VSD.(3)检出率:产前胎儿心脏超声检查中未检出VSD的4354例胎儿中,产后新生儿心脏超声检出54例VSD,均为单纯性.产前检出产后证实的及产后诊断的VSD共77例,发生率为1.8％ (77/4393),单纯性VSD发生率为1.3％(55/4393),复杂性VSD发生率为0.5％(22/4393).产前胎儿心脏超声检查对于复杂性VSD的检出率为100.0％(22/22),漏诊率为0.0％(0/22),误诊率为0.2‰(1/4371).产前单纯性VSD的检出率为1.8％(1/55),漏诊率较高(98.2％,54/55),误诊率为3.5‰(15/4338). 结论 产前胎儿心脏超声检查对于合并有其他心脏结构异常的复杂性VSD的检出率及准确率高;而对于单纯性VSD,有较高的漏诊率及误诊率.     

超声心动图对胎儿先天性心脏结构异常的诊断价值

目的探讨超声心动图对胎儿先天性心脏结构异常诊断的价值.方法2004-01-2005-10江门市妇幼保健院对724例胎儿心脏进行了二维、M型、彩色多普勒血流显像检查.取胎儿四腔心切面,三血管平面,大血管短轴切面,左心室长轴切面,主动脉长轴切面,右室两腔切面等多切面检查.结果724例胎儿超声心动图检查中15例诊断胎儿先天性心脏结构异常,4例伴有多发畸形.13例进行了治疗性引产,其中9例均经尸解证实超声诊断结构,4例拒绝尸解;1例心包积液;1例超声诊断为卵圆孔增大,出生后复查心脏结构未见异常.709例产前超声心动图检查未发现异常者3例于出生后发现先天性心脏病.结论超声心动图对胎儿先天性心脏结构异常的诊断具有重要价值.四腔心切面、三血管平面是超声诊断先天性心脏结构异常最重要的切面.     

二维超声联合四维超声在不同妊娠周期产前筛查胎儿畸形中的应用

目的探析二维超声联合四维超声在不同妊娠周期产前筛查胎儿畸形中的应用效果及价值。方法选取于本院2018年12月~2019年8月行产前检查的160例不同孕周的妇女,均为3个妊娠周期予以检查:孕早期(11~17+6周)、孕中期(18~27+6周)、孕晚期(28~40+6周)。先行二维超声,而后施加四维超声检查予以联合检查,对比分析二维超声检查与二维联合四维超声检查两种手段在不同妊娠周期的筛查精确率。结果二维联合四维超声检查的总检出率为90%,显著高于二维超声检查的50%,差异具统计学意义(P<0.05)。结论二维超声联合四维超声检查诊断胎儿畸形的精确率较高,且孕中期行产前胎儿畸形筛查的效果相对最佳,临床极具推广应用价值。     

产前超声诊断胎儿主动脉缩窄的研究进展

超声心动图是诊断胎儿主动脉缩窄的首选影像学检查方法。目前已有一些典型的超声征象用于产前诊断胎儿主动脉缩窄, 但尚无单一征象可以准确诊断或排除主动脉缩窄, 而超声评分系统在诊断主动脉缩窄及风险分级等方面仍处于探索中。本文就产前超声诊断胎儿主动脉缩窄的研究进展作一综述。     

彩色多普勒超声在胎儿心脏病诊断中的应用

目的：探讨彩色多普勒超声诊断胎儿心脏病的临床价值。方法：应用Ａｃｕｓｏｎ１２８×Ｐ／１０彩色多普勒超声诊断仪检查３６８例孕２０～４０周的心脏病高危胎儿，并将产前超声检查与胎儿尸体检查或分娩后彩色多普勒超声检查结果进行对照。结果：产前超声检查发现１１例胎儿心脏病，５例经引产后胎儿尸体检查证实，５例经产后彩色多普勒超声检查证实，１例假阳性，１例假阴性。结论：彩色多普勒超声是产前诊断胎儿心脏病的重要方法。     

胎儿先天性心脏病产前产后一体化管理现状及挑战

为了提高胎儿先天性心脏病(congenital heart disease, CHD)的产前检出率和诊断准确率, 关口前移的防治已成为国际主要趋势。胎儿CHD产前产后一体化管理, 即及早准确的诊断、结构相关的多维病因诊断、规范咨询、面向下一胎一级预防的临床路径建立及出生救治, 在实践中已显示了对CHD防治的效果。现针对胎儿CHD产前产后一体化管理目前国内实施的现状、存在的挑战及发展趋势进行总结及阐述。     

Fetal cardiac stroke volume determination by four-dimensional ultrasound with spatio-temporal image correlation compared with two-dimensional and Doppler ultrasonography

OBJECTIVE: To assess the agreement of stroke volume (SV) measured with two-dimensional (2D) ultrasonography with Doppler capability (vs) four-dimensional (4D) with spatiotemporal image correlation (STIC) in normal and growth restricted fetuses. METHODS: 2D Doppler and 4D STIC were used to measure SV of 40 normal fetuses at 20 to 22 and 28 to 32 weeks, and 16 growth-restricted fetuses at 26 to 34 weeks of gestation. Intraclass correlation was used to evaluate the agreement between left and right SV obtained by the two techniques, and proportionate Bland-Altman plots constructed. The time necessary to obtain SV was analyzed. RESULTS: The intraclass correlation coefficient between 2D Doppler and 4D STIC measurements for the left ventricle were 0.977 and 0.980 for the right ventricle. The proportionate limits of agreement between the two methods were 18.7 to 23.9% for the left ventricle and - 20.9 to 21.7% for the right ventricle. The time necessary to measure SV was significantly shorter with 4D STIC (3.1 (vs) 7.9 min p < 0.0001) than with 2D Doppler. CONCLUSIONS: There is a good agreement between SV measured either by 2D Doppler or by 4D STIC. The 4D STIC represents a simple and rapid technique to estimate fetal SV and promises to become the method of choice.     

超声与磁共振成像诊断胎儿脊柱与脊髓发育异常的对照研究

目的 比较产前超声检查、磁共振成像(MRI)用于诊断胎儿脊柱与脊髓发育异常的临床价值.方法 选择产前超声检查显示胎儿脊柱与脊髓发育异常的30例孕妇(其中脊柱排列不规则19例、椎管局部增宽7例、脊柱曲度异常4例),年龄22～41岁,孕龄23～38周,在超声检查后72 h内行MRI检查.30例孕妇中选择引产者25例,选择继续妊娠者5例.经患者知情同意,对引产后患儿行尸体解剖(尸解,22例)或尸体影像学检查(3例);对选择继续妊娠者,新生儿出生后12个月内行MRI随访.结果 (1)诊断符合率:19例产前超声显示脊柱排列不规则的胎儿中,产前超声正确诊断8例,分别为3例脊膜膨出、1例隐形脊柱裂、1例脊髓脊膜膨出、3例半椎体,产前超声诊断正确率为42%(8/19);而MRI正确诊断17例,只有1例半椎体和1例蝴蝶椎未能明确诊断,MRI诊断符合率为89%(17/19).7例超声显示椎管局部增宽的胎儿中,产前超声正确诊断0例,符合率为0,MRI正确诊断7例,符合率为7/7.4例超声显示脊柱曲度异常的胎儿中,产前超声正确诊断2例,为尾退化综合征和颈椎过度反曲各1例,符合率为2/4,MRI正确诊断3例,只有1例背侧皮毛窦未能正确诊断,MRl诊断符合率为3/4.(2)MRI的优势:MRI与超声诊断一致9例、纠正超声诊断6例、确诊超声可疑的诊断1例、完善超声诊断11例,MRI和超声均漏诊半椎体、蝴蝶椎和背侧皮毛窦各1例.超声漏诊病例多为脊髓病变,且声像图表现无特异性.结论 MRI可直接显示脊髓及其病变,在评价胎儿脊柱与脊髓发育异常方面是对超声显像的补充,能显著提高诊断的准确性.     

磁共振检查在确定胎儿脑室扩张疾病诊断中的临床适应证探讨

目的 通过对产前超声筛查出的脑室扩张胎儿行磁共振检查,探讨其确定诊断的适应证和应用价值.方法 2006年3月至2007年10月在中国医科大学附属盛京医院行产前超声检查的胎儿26 072例,其中产前超声筛查出胎儿脑室扩张104例,超声筛查孕龄为22周+2～39周+5,平均32周+1.按Gaglioti标准对104例脑室扩张胎儿进行分组:脑室扩张10～12 mm组66例,13～15 mm组22例,16～20 mm组14例,21～25 mm组2例;按脑室扩张部位不同分为单侧脑室扩张组75例,双侧脑室扩张组29例.在超声筛查48 h内对各组胎儿行磁共振检查以确定中枢神经系统疾病诊断,并随访妊娠结局.结果 (1)胎儿脑室扩张的发生率为0.39%(104/26 072).(2)脑室扩张10～12 mm组确定诊断3例(5%,3/66),分别为小脑发育不良、脑血管畸形及胸腹联合畸形各1例,单纯脑室扩张63例;13～15 mm组确定诊断5例(23%,5/22),分别为胼胝体缺如、脑出血、脑出血合并脑脊膜膨出、脑脊膜膨出及颅内占位各1例,单纯脑室扩张17例;16-20 mm组确定诊断6例(43%,6/14),分别为胼胝体缺如4例、脑出血1例、胼胝体缺如合并脑室出血1例,单纯脑室扩张8例;21～25 mm组确定诊断2例(2/2),分别为胼胝体缺如1例、脑出血1例,无单纯脑室扩张.10～12 mm组确定诊断率与其他3组比较,差异有统计学意义(P＜0.01).(3)单侧脑室扩张组中确定诊断4例(5%,4/75),双侧脑室扩张组中确定诊断12例(41%,12/29),两组比较,差异有统计学意义(P＜0.01).(4)104例脑室扩张胎儿中磁共振确定中枢神经系统疾病诊断16例,诊断率为15%.16例疾病胎儿中引产15例,尸体检查结果与磁共振确定疾病诊断完全相同;1例为胼胝体缺如,脑室扩张15 mm,在观察下妊娠至足月分娩,为正常新生儿;其余88例均妊娠至足月分娩,为健康新生儿.结论 超声筛查胎儿侧脑室扩张≥16 mm或双侧脑室扩张时,建议行磁共振检查以确定胎儿中枢神经系统的疾病诊断;脑室扩张≤12 mm的单纯侧脑室扩张不必行磁共振检查,可行超声动态观察,当发现胎儿脑室扩张程度有增加趋势时再行磁共振检查以明确诊断.     

Four-dimensional ultrasonography of the fetal heart with spatiotemporal image correlation

OBJECTIVE: This study was undertaken to describe a new technique for the examination of the fetal heart using four-dimensional ultrasonography with spatiotemporal image correlation (STIC). STUDY DESIGN: Volume data sets of the fetal heart were acquired with a new cardiac gating technique (STIC), which uses automated transverse and longitudinal sweeps of the anterior chest wall. These volumes were obtained from 69 fetuses: 35 normal, 16 with congenital anomalies not affecting the cardiovascular system, and 18 with cardiac abnormalities. Dynamic multiplanar slicing and surface rendering of cardiac structures were performed. To illustrate the STIC technique, two representative volumes from a normal fetus were compared with volumes obtained from fetuses with the following congenital heart anomalies: atrioventricular septal defect, tricuspid stenosis, tricuspid atresia, and interrupted inferior vena cava with abnormal venous drainage. RESULTS: Volume datasets obtained with a transverse sweep were utilized to demonstrate the cardiac chambers, moderator band, interatrial and interventricular septae, atrioventricular valves, pulmonary veins, and outflow tracts. With the use of a reference dot to navigate the four-chamber view, intracardiac structures could be simultaneously studied in three orthogonal planes. The same volume dataset was used for surface rendering of the atrioventricular valves. The aortic and ductal arches were best visualized when the original plane of acquisition was sagittal. Volumes could be interactively manipulated to simultaneously visualize both outflow tracts, in addition to the aortic and ductal arches. Novel views of specific structures were generated. For example, the location and extent of a ventricular septal defect was imaged in a sagittal view of the interventricular septum. Furthermore, surface-rendered images of the atrioventricular valves were employed to distinguish between normal and pathologic conditions. Representative video clips were posted on the Journal's Web site to demonstrate the diagnostic capabilities of this new technique. CONCLUSION: Dynamic multiplanar slicing and surface rendering of the fetal heart are feasible with STIC technology. One good quality volume dataset, obtained from a transverse sweep, can be used to examine the four-chamber view and the outflow tracts. This novel method may assist in the evaluation of fetal cardiac anatomy.     

产前超声筛查胎儿唇裂和(或)腭裂及相关畸形

目的 评估产前超声对胎儿唇裂和(或)腭裂(简称唇腭裂)的检出率,以及合并的相关结构及染色体异常的发生情况. 方法 本研究为回顾性分析,纳入2006年1月至2010年12月在广州市妇女儿童医疗中心进行常规产前检查并分娩的单胎妊娠孕妇31 245例,于妊娠中期常规行胎儿超声筛查,发现唇腭裂的胎儿建议行染色体核型分析.所有活产新生儿及引产儿均进行口腔检查,以确诊唇腭裂,分析产前诊断的准确性. 结果 所有活产新生儿及引产儿共诊断唇腭裂48例,发生率为1.5‰(48/31 245),其中单纯唇裂占33.3％(16/48),唇裂合并腭裂占43.8％(21/48),单纯腭裂占22.9％(11/48).产前超声共发现18例单纯唇裂,其中14例与生后/引产后诊断完全相符,单纯唇裂产前超声诊断准确率为77.8％(14/18);3例分娩后发现新生儿同时合并腭裂,补充诊断为唇裂合并腭裂;1例产前超声诊断唇裂,因羊水过少引产,但引产儿无唇裂.产前超声检出18例唇裂合并腭裂,生后/引产后证实产前超声诊断均正确.2例胎儿产前超声检查正常,但新生儿检查发现单纯唇裂,均为Ⅰ度.产前超声未检出单纯腭裂,但新生儿生后诊断单纯腭裂11例.产前超声检出唇裂及唇裂合并腭裂的敏感性为86.5％(32/37),检出唇腭裂总的敏感性为66.7％(32/48),假阳性率为2.1％(1/48).产前超声诊断36例唇腭裂胎儿中10例(27.8％)合并其他结构畸形,与生后检查结果一致.产前检出18例唇裂合并腭裂胎儿中9例行染色体检查,其中 7例染色体异常.产前超声检出的36例唇腭裂胎儿中仅13例(12例单纯唇裂,1例唇裂合并腭裂)正常分娩,余23例孕妇均选择引产. 结论 产前超声筛查单纯唇裂及唇裂合并腭裂敏感性高,但难以检出单纯腭裂.单纯唇裂合并染色体异常概率低,而一旦合并腭裂,合并染色体异常及其他结构异常的风险增高.     

Cardio-STIC (spatio-temporal image correlation) as genetic ultrasound of fetal Down syndrome

Objective: To evaluate efficacy of cardio-STIC in detection of fetal Down syndrome.

Methods: Cardio-STIC volume datasets (VDS) were prospectively collected from women during 16–22 weeks, consisting of 40 VDS acquired from fetuses with Down syndrome and 400 VDS from normal fetuses. All VDS were blindly analyzed.

Results: Between both groups, most dimensions were comparable but the right-sided dimensions were significantly greater in fetuses with Down syndrome. Interestingly, shortening fraction was also significantly higher in affected fetuses. Right-to-left disproportion and shortening fraction were used as cardiac markers as well as other eight structural markers to predict fetal Down syndrome. Tricuspid regurgitation had highest sensitivity (30%); followed by VSD (27.5%), right-to-left disproportion (20.0%), and echogenic intra-cardiac foci (EIF; 17.5%). If the test was considered positive in case of the presence of any cardiac marker, cardio-STIC had a detection rate of 72.5% and false-positive rate of 19.5%. Likelihood ratio of each marker for modifying priori risk was also provided.

Conclusion: Cardio-STIC as genetic ultrasound for Down syndrome had a detection rate of about 70% and false-positive rate 20%. Cardio-STIC analysis can be helpful in estimation of fetal risk for Down syndrome and counseling when the prenatal diagnosis of the syndrome is made.     

Scan the fetal heart by real-time three-dimensional echocardiography with live xPlane imaging

Objective.?To describe the methodology of live xPlane imaging in the visualization of the fetal heart in detail.

Methods.?Fifty-one consecutive pregnant women with singleton pregnancies were imaged to display four screening sections of the fetal heart, the four-chamber view, the left outflow tract view (LVOT), the right outflow tract view (RVOT), and the three-vessel and trachea view (3VT), using live xPlane imaging. The methodology of how to visualize the screening planes was described in detail. We used two methods to image the fetal heart with live xPlane imaging: one uses the four-chamber view as the starting plane and the other uses the longitudinal view of fetal upper thorax as the starting plane.

Results.?When using the four-chamber view as the starting plane, the visualization rate of LVOT, RVOT, and 3VT was 94.1% (48/51), 100% (51/51), and 98.0% (50/51), respectively. When using the longitudinal view as the starting plane, the visualization rate of four-chamber view, LVOT, RVOT, and 3VT was 100% (51/51), 100% (51/51), 41.2% (21/51), and 100% (51/51), respectively.

Conclusions.?Live xPlane imaging can be used to visualize the screening views of the fetal heart, and potentially may be a useful tool for the assessment and diagnosis of fetal congenital heart diseases.