超声心动图对胎儿先天性心脏病产前诊断价值的Meta分析

目的探讨超声心动图用于胎儿先天性心脏病（CHD）的产前诊断价值。方法检索Cochrane 图书馆、PubMed、OVID、Springer数据库、中国期刊全文网、万方数据库和中国生物医学文献数据库（从1990年1月至2009年1月）中的文献,按照诊断试验的严格纳入标准筛选文献,提取纳入文献的特征信息。采用Meta-DiSc 1.4软件进行Meta分析,检验异质性,并根据异质性结果选择相应的效应模型。对所有文献予以加权定量合并,计算敏感度和特异度及其95%CI。绘制汇总受试者工作特征（SROC）曲线,并计算曲线下面积（AUC）,最后进行敏感度分析。结果共纳入文献18篇,检查胎儿77 939例。7篇文献采用基本心脏超声检查（BCEE）筛查胎儿CHD,研究间具异质性,采用随机效应模型,汇总敏感度、特异度和SROC AUC分别为41.7%、99.9%和0.9787。12篇文献采用扩展心脏超声检查（ECEE）筛查胎儿CHD,研究间具异质性,采用随机效应模型,汇总敏感度、特异度和SROC AUC分别为66.9%, 99.9%和0.9956。ECEE的敏感度显著高于BCEE（χ2=63.93,P<0.05）。对BCEE和ECEE筛查胎儿CHD的文献进行分层和敏感度分析,两种检查方法在妊娠中至晚期筛查胎儿CHD的敏感度均高于妊娠中期（χ2分别为5.47和39.37, P均<0.05）;ECEE筛查存在CHD低危因素孕妇的胎儿CHD的敏感度低于所有孕妇和存在CHD高危因素孕妇胎儿的敏感度, 差异有统计学意义（χ2分别为81.82和156.58,P均<0.05）;ECEE筛查所有孕妇与存在CHD高危因素孕妇的胎儿CHD的敏感度差异无统计学意义（χ2=1.67,P>0.05）。结论超声心动图对胎儿CHD的诊断敏感度较高,适用于早期筛查胎儿CHD,但仍需进一步前瞻性、多中心的研究对胎儿筛查人群和超声切面的选择等方面进行卫生经济学评估,探讨适合中国国情的胎儿CHD的最优化超声筛查操作规范。     

胎儿颈项透明层增厚的临床遗传学分析

目的 分析胎儿颈项透明层(nuchal translucency,NT)增厚的临床遗传学特点.方法 回顾性分析2013年7月至2018年10月于中山大学附属第一医院行介入性产前诊断病例共7788例,纳入NT增厚(NT≥3.0 mm)胎儿382例.按NT值分为5组:3.0～3.4 mm、3.5～3.9 mm、4.0～4....     

胎儿超声心动图检查的多中心临床评价

目的 评价高危人群中进行胎儿超声心动图检查的诊断价值。方法 2003年1月至2004年12月,在上海两家三级妇产科医院进行高危人群中胎儿先天性心脏病产前诊断前瞻性研究。运用二维和彩色／脉冲多普勒超声进行详细化胎儿超声心动图检查,随访并评价诊断灵敏度、特异度及患儿预后。结果研究期间共2063例胎儿接受检查,检查时平均孕周为26,5周（16—42周）。产前诊断胎儿先天性心脏病43例,诊断时平均孕周27．3周（16—40周）,异常病例检查指征中“产科超声检查发现胎儿心脏可疑异常”占67．4％。产前诊断灵敏度92.1％,特异度99．9％。准确性86．1％。随访病例中,52．1％终止妊娠,2．2％宫内死亡,13％新生儿或婴儿期死亡,28．3％存活。结论（1）目前临床实践中胎儿超声心动图检查是在高危人群中进行先天性心脏病产前诊断的有效方法。（2）产科超声筛查提示胎儿心脏畸形是检查的重要指征。（3）完整的分段诊断是提高诊断准确性的关键。（4）患有先天性心脏病的胎儿预后不佳,由产科与儿科医生参与的多学科合作可能有助于改善胎儿预后。     

超声心动图诊断胎儿先天性心脏病的研究

目的了解超声心动图在胎儿先天性心脏病（简称先心病）诊断中的价值。方法从对１８００例胎儿四室心初筛中选出１６３例胎儿应用胎儿心脏各切面和多普勒测定进行超声心动图检测。５例同时作了ＭＲＩ检查。结果发现心脏异常３２例（１９．６％），其中先心病２１例（１２．９％）。５例胎儿先心病作了ＭＲＩ检查，发现其影像较超声清晰。结论两项检查合用，可提高胎儿先心病的诊断水平；胎儿超声检查中增加卵圆孔直径和血流的测定，可以作为房间隔缺损的诊断标准。     

多普勒超声心动图对胎儿心脏血流动力学的研究进展

随着多普勒超声技术的发展，多普勒超声心动图越来越多地应用于对胎儿心脏血流动力学的检测。近几年来，检测的重点多为母亲疾病状态下的胎儿、母亲用药、胎儿宫内发育迟缓（ＩＵＧＲ）及胎儿贫血的胎心功能变化。与正常胎儿对照：糖尿病母亲胎儿心脏的室间隔显著增厚，影响了心脏的舒张功能。母亲用消炎痛时可使胎儿心导管收缩，而使用小剂量阿斯匹林和抗高血压对胎儿心功能影响不大。在ＩＵＧＲ胎儿中，左心室输出量相对增加，而右心室的相对减少。贫血胎儿在输血前的左、右心输出量及Ｅ／Ａ比明显增加，而输血后降为正常。另外，检测胎儿心功能可受到胎儿呼吸样运动、心率、胎动、多普勒角度等的影响。     

先天性心脏病的产前超声心动图诊断

应用胎儿超声心动图方法产前诊断先天性心脏病（先心病）是近年来先心病诊断的重要进展之一。胎儿心脏的超声征像与出生后的表现不尽相同。胎儿先心病的超声诊断标准除少数病种外大致与新生儿者相似。临床报道应用胎儿超声心动图产前诊断的先心病有空间隔缺损、房室隔缺损、单心室、爱勃斯坦畸形、左心发育不良、右心发育不良、四联症及其他复杂心脏畸形，均有较高的诊断敏感度及特异性。容易遗漏或误诊的有房间隔缺损，小型室间隔缺损、动脉瓣狭窄及主动脉缩窄等。经腹壁检查胎儿心脏可自孕期１６～１８周开始，经阴道检查可提早至孕期１２周。伴有先心病高危因素的孕妇为主要的检查对象。     

胎儿期完全型大动脉转位超声诊断的特征

目的探讨胎儿完全型大动脉转位(C-TGA)超声心动图的特征及诊断价值。方法分析6例经手术或尸解证实的C-TGA的新生儿超声心动图检查,并回顾分析其胎儿期漏诊误诊原因,总结胎儿C-TGA超声心动图的诊断体会。结果6例新生儿大动脉转位,其中胎儿期超声漏诊5例,误诊1例。其中产前仅诊断室间隔缺损或右室双出口,经出生后手术证实的C-TGA4例,尸解证实C-TGA 1例。结论C-TGA在胎儿期已有明确超声声像特征,加强医师对先天性心脏病知识的系统学习,降低漏诊误诊率是提高筛查质量的关键。     

产前超声检查胎儿侧脑室增宽的临床意义

目的 探讨产前超声检测胎儿侧脑室增宽的临床意义. 方法 对孕20～ 41周的孕妇进行胎儿系统筛查,选择侧脑室＞10 mm的胎儿,每3～4周进行1次超声检查,观察侧脑室的动态变化及其他异常情况,进行染色体及病毒学检查,直至足月分娩,并随访至1岁. 结果 共检出133例侧脑室增宽的胎儿,其中轻度增宽的胎儿（10 mm＜侧脑室≤12 mm）79例;77例自行消退,预后良好;2例因染色体异常引产.中度增宽的胎儿（12 mm＜侧脑室≤15 mm）43例;25例自行消退,预后良好;4例宫内缺氧或发育迟缓,3例预后良好;12例因染色体异常或巨细胞病毒感染或合并其他畸形引产;2例侧脑室进行性增宽,最终因＞15 mm引产.重度增宽的胎儿（15 mm＜侧脑室）11例;9例合并其他畸形胎儿引产;2例孕至足月,其中1例出生后出现脑瘫,1例出生后智力和生长发育明显低于同龄儿. 结论 对侧脑室轻中度增宽的胎儿进行动态观察,并进一步进行染色体和病毒学检查,不合并其他畸形的胎儿妊娠结局良好,重度侧脑室增宽及合并其他畸形的胎儿,其妊娠结局不良.     

经产前超声诊断先天性畸形的外科干预

目的探讨先天性畸形产前超声诊断与小儿外科干预措施的价值。方法总结我院近3年收治25例先天性畸形的超声检查与临床资料。畸形包括消化道9例(36％),泌尿系7例(28％),腹壁4例(16％)和其它系统5例(20％)。结果本组25例中24例经手术或产后超声证实了产前诊断,特异性为96％。1例终止妊娠;16例经手术(急诊手术11例)治疗的患儿中13例治愈,2例因合并其他畸形家长放弃治疗,1例死亡;药物注射治愈胸壁淋巴管瘤1例;7例泌尿系畸形均在随诊观察中：结论超声检查是诊断宫内先天性畸形的首选和重要手段。我国先天性畸形产前诊断的水平及范围还很不平衡,本组诊断水平较高与地域有关。多数畸形适于早期手术治疗,而大部分泌尿系畸形需随诊观察。小儿外科医师应积极参与先天性畸形的产前诊断和围产期管理,使患儿得到及时、妥当的治疗,可进一步提高先天性畸形的诊治水平。     

完全型肺静脉异位引流胎儿超声肺静脉频谱特征

目的 探讨胎儿完全型肺静脉异位引流(TAPVC)的肺静脉频谱特征表现.方法 回顾性分析2017年2月至2021年6月经山东省潍坊市妇幼保健院产前超声心动图诊断的TAPVC胎儿的肺静脉频谱表现,总结不同类型TAPVC肺静脉的频谱特征.结果 共诊断19例TAPVC(11例单纯型,8例复合型)胎儿,其中心上型11例,心内型和...     

The nuchal translucency examination leading to early diagnosis of structural fetal anomalies

Objective

To evaluate the ability to diagnose structural fetal anomalies during or soon after an extended nuchal translucency (NT) examination.

Methods

The study population included all women who had a routine NT examination in the ultrasound division of one of three centers. Also included in the study were women referred to these centers following an abnormal NT examination. The sonographers were instructed to pay attention to fetal anomalies while performing the NT examination. Each examination was initially attempted transabdominally. Failure to obtain adequate views transabdominally was an indication for a transvaginal examination. When a structural fetal anomaly was detected or suspected, a full fetal anomaly scan was performed. When a diagnosis could not be established, fetal anatomy scan was repeated after 14 weeks of gestation. Fetal cardiac scanning was performed transvaginally, immediately or within 3 days after an increased NT was observed. When fetal anomalies were diagnosed the patients were informed about the possibilities of terminating the pregnancy or continuing the work-up and follow-up. Overall, ascertainment of fetal outcome was available in 85% of the study population.

Results

We performed 4467 NT examinations during the study period and additional 123 fetal cardiac scanning following an abnormal NT examination. Overall, we performed 365 fetal cardiac scanning between 11 and 14 weeks of gestation. The fetal anomalies detected included the following: three skeletal anomalies, seven brain anomalies, four urinary system anomalies, four abdominal anomalies, two facial anomalies, and 13 cardiac anomalies. Six of the 13 cardiac anomalies were found in the atrioventricular canal. One third of the patients (11/33) elected to discontinue the pregnancy a short time after the detection of the congenital anomaly (until 14 weeks of gestation) and half of the patients (16\33) asked for termination of pregnancy later. More than 60% of the patients (20/33) with congenital anomalies detected following the NT examination refused to have chorionic villous sampling (CVS) or amniocentesis.

Conclusion

The opportunity to scan the fetal anatomy in the early stages of pregnancy, when the NT examination is performed, justifies the approach of extended NT examination.     

Early fetal echocardiography and anomaly scan in fetuses with increased nuchal translucency

Nuchal translucency (NT) identified at the time of the 11-14 week scan has been established as one of the best tools for screening for Down syndrome. It has also proven to be of value in screening for other conditions such as cardiac defects and extra-cardiac structural abnormalities. In this article, we present data from our fetal medicine unit that highlight the importance of using NT measurement as a stratifying tool when referring for early scans. We propose that, whenever possible, in selected cases with increased NT, provision should be made for additional early scans at 14-18 weeks of gestation with a view to providing information on fetal structural integrity well ahead of the routine scheduled appointments. Early scans should incorporate detailed assessment of the fetal cardiac as well as extra-cardiac anatomy to diagnose or rule out major structural defects. This strategy will provide reassurance to a large number of prospective parents.     

胎儿心脏结构异常的超声诊断研究

目的：探讨超声心动图检测胎儿心脏结构异常的诊断价值及临床意义。方法：总结分析我院9 352 例胎儿超声心动图资料。结果：检出472例胎儿心脏结构异常,其中室间隔缺损97例,房室共同通道53例,房间隔缺损49例,法洛四联症26例,永存动脉干21例,三尖瓣下移畸形20例,其他类型心脏结构异常206例。其中17例伴有胎儿心律失常。初次胎儿超声心动图检查发现伴有胎儿心力衰竭9例、胎儿水肿5例。结论：胎儿超声心动图的应用有助于早期检出心脏结构异常并指导患胎的处理。胎儿超声心动图对胎儿先天性心血管畸形准确的诊断及评价是胎儿心脏宫内干预和监测的基础。［中国当代儿科杂志,2010,12（2）：99-102］     

妊娠早中期胎儿超声心动图诊断先天性心脏病的临床价值

胎儿超声心动图检查是先天性心脏病产前诊断的最有效方法.妊娠早中期胎儿超声心动图筛查先天性心脏病的敏感性及特异性均较高,有序的分段多切面检查是保证诊断准确性的关键.由产科医生、超声科医生、小儿心脏科医生参与的多学科合作可改善胎儿预后,指导孕妇对妊娠过程进行正确的决策,对胎儿进行必要、合理的干预,对降低新生儿出生缺陷具有重要意义.     

Nomograms of fetal nuchal fold thickness for early detection of down syndrome

A prospective study was undertaken in North India to find the normative data on the nuchal fold thickness of randomly selected 150 fetuses between 16–22nd week of gestation. The data revealed that the width of nuchal fold thickness ranged between 2–5mm. The mean for 16–18, >18–20, and >20–22 week's gestation was 2.6±0.2, 3.8±0.9, and 4.0±0.8 mm respectively. In one fetus nuchal fold thickness was 6mm at 18 weeks (>2SD above the normal value) and thus Down Syndrome was suspected. This was later confirmed by amniocentesis and karyotyping.     

Diastolic function of the fetal heart during second and third trimester: A prospective longitudinal Doppler-echocardiographic study

To generate normal charts of fetal cardiac inflow velocities and to assess physiologic changes of ventricular diastolic function, velocity waveforms of tricuspid and mitral valves were studied longitudinally in 49 fetuses in 4 week intervals from 14 weeks gestation to term. Doppler tracings were analyzed for: peak early (E) and peak late (A) inflow velocities, time velocity integral (TVI) of total inflow and A-wave velocity waveforms and heart rate corrected isovolemic relaxation time. E-and A-velocity as well as total-and A-wave-TVI of both valves increased significantly with gestational age (P<0.001). Heart rate and A/E ratio decreased significantly with gestational age (P<0.001). The ratio of A-wave TVI to total TVI of both valves and heart rate corrected isovolemic relaxation time (IVR) was constant suggesting unchanged diastolic function. This study provides normal charts for fetal cardiac inflow velocities. After 14 weeks of gestation all inflow velocities and their respective TVI's increased linearly in the growing fetal heart. There was evidence that diastolic function did not change. Area ratios and IVR should be used to determine changes in ventricular diastolic function, rather than velocity ratios.     

Nuchal translucency thickness and crown rump length discordance for the prediction of outcome in monochorionic diamniotic pregnancies

Background

Ultrasonographic features of the underlying hemodynamic changes in twin-twin transfusion syndrome (TTTS) may be present at the first trimester scan.

Aims

To investigate the value of intertwin discordance in nuchal translucency (NT) thickness and crown rump length (CRL) to predict TTTS and other adverse outcomes.

Study design

Cohort study.

Subjects

One hundred and thirty-five unselected consecutive monochorionic diamniotic twin pregnancies.

Outcome measures

NT and CRL discordance were assessed at 11 to 13^+ 6 weeks' gestation. Receiver-operating characteristics (ROC) curves were used to determine their predictive ability for the subsequent development of TTTS.

Results

TTTS complicated 16/135 (12%) pregnancies. Four other pregnancies were complicated by selective intrauterine growth restriction (sIUGR) and 3 by miscarriage < 24 weeks gestation. The median NT discordance was 15% (range 0-37%) in TTTS pregnancies, 13% (12-19%) in those with miscarriage < 24 weeks’ gestation, 47% (30-50%) in those with sIUGR, and 14% (0-86%) in those without complications. Prediction for subsequent development of TTTS provided by the discordance in CRL, expressed as the area under ROC curve, was 0.52 (95% confidence interval 0.38-0.67), while it was 0.50 for NT discordance (95% confidence interval 0.35-0.64). NT discordance was significantly higher in sIUGR compared to both uncomplicated and TTTS pregnancies (p = 0.004 and p = 0.003, respectively).

Conclusion

In an unselected population of monochorionic twin pregnancies, discordance in CRL and NT measured during first trimester scan is not a clinically useful predictor of the subsequent development of TTTS. Therefore, strict ultrasound follow up is recommended for the timely diagnosis of TTTS.     

孕妇血清微小RNA-423对胎儿神经管缺陷产前诊断的意义

目的 母亲血清中微小RNA(microRNA,miRNA)的发现为无创性产前诊断开辟了新途径.但是对神经管缺陷胎儿母亲血清中妊娠相关的miRNA的研究甚少.该文旨在研究微小RNA-423(mi-croRNA-423,miR-423)在神经管缺陷胎儿孕妇血清中的异常表达及其作为潜在诊断标志物的临床价值.方法 33例产前超声检查确诊为胎儿神经管缺陷的患儿为研究对象,其中脊柱裂22例,无脑儿11例;33例胎儿健康孕妇为对照组.所有孕妇均于清晨空腹抽外周静脉血5ml离心后取血清,提取血清总RNA,用Real-time RT-PCR方法测定miR-423表达水平.并用ROC曲线分析用miR-423诊断胎儿神经管缺陷的价值.结果 神经管缺陷胎儿孕妇血清中miR-423含量(0.96±0.14)明显低于健康胎儿孕妇对照组(2.28±0.43),P＜0.05.ROC分析miR-423曲线下面积为0.711(95％ CI:0.566～0.856)(P＜0.05).另外,对不同类型的神经管缺陷孕妇血清中的miR-423表达水平分析发现,只有在无脑儿中表达降低(0.58±0.08)差异有统计学意义.结论 孕妇血清中miR-423可作为胎儿神经管缺陷的无创性产前诊断标志物,具有潜在的临床价值,可能预示胎儿神经管缺陷严重程度.     

降钙素原对儿童细菌性脑膜炎鉴别诊断的meta分析

目的 探讨降钙素原(PCT)对儿童细菌性脑膜炎的诊断价值。方法 采用计算机检索获得PCT对儿童细菌性脑膜炎的诊断性研究文献,检索时间为建库至2013年7月,按照QUADAS 标准评价纳入文献质量。采用Meta-Disc 1.4 软件进行Meta分析,对敏感度、特异度、阳性似然比、阴性似然比进行汇总和异质性检验,绘制综合受试者特征曲线（SROC）,行敏感性分析和异质性原因分析。使用Stata 12.0软件判断发表偏移并绘制漏斗图。结果 12篇文献进入Meta分析（中文5篇,英文7篇）。①汇总敏感度0.95（95%CI:0.92~0.97）,特异度0.89（95%CI:0.86~0.92）,阳性似然比11.09（95%CI:5.73~21.49）,阴性似然比0.07（95%CI:0.05~0.11）,诊断比值比122.01（95%CI:65.08~228.75）,SROC 曲线下面积（AUC）0.977 7,Q*指数0.933。②分别剔除样本量<50文献、中文文献和回顾性研究文献的敏感性分析显示,上述诊断参数的95％CI与原数据有较大重叠。③特异度、阳性似然比的文献间存在显著的异质性,研究地域、PCT检测方法和细菌性脑膜炎诊断标准可能不是异质性产生的原因。④以PCT 5 μg·L-1界值诊断儿童细菌性脑膜炎的敏感度、特异度,SROC AUC和Q*指数最大。结论 PCT在鉴别诊断儿童细菌性脑膜炎与病毒性脑膜炎中有较高的敏感度和特异度,但各研究间存在异质性,使用PCT鉴别诊断儿童细菌性脑膜炎仍需结合具体的临床情况。