彩色多普勒超声心动图诊断胎儿先天性心脏病的临床价值

目的:探讨彩色多普勒超声技术在诊断胎儿心脏异常中的应用价值。方法:对临床高度疑有胎儿先天性心脏病(CHD)的孕妇2600例行胎儿超声心动图检查。结果:检出胎儿心脏异常20例,检出率0.77%。其中CHD17例(0.65%),心脏肿瘤1例(0.038%),三尖瓣中量反流1例(0.038%),心包少量积液1例(0.038%)。经引产尸体解剖证实11例,产后彩色多普勒超声检查证实7例,失访2例。结论:胎儿超声心动图检查对产前检出胎儿心脏病具有重要的临床价值;胎儿心胸或心腔比率异常及胎儿心脏四腔观异常是胎儿CHD的最主要声像图表现。     

产前胎儿超声心动图对先天性心脏病的诊断价值

目的探讨产前超声心动图对胎儿先天性心脏病的临床价值。方法选取我院2008年8月~2014年5月来我院要求做胎儿心脏超声筛查的孕周20~26周的孕妇1568例为研究对象,应用超声心动图对孕妇行胎儿心脏检查,对胎儿左右室流出切面、四腔心切面以及主动脉弓切面等的二维声像图进行全面仔细的观察,并结合彩色多普勒进行分析。结果 1568例被检胎儿中发现先天性心脏病21例(1.33%)。证实与诊断相符18例(85.7%);误诊1例(4.8%);漏诊2例(9.5%)。结论采用超声心动图对孕妇进行产前诊断,其对胎儿先天性心脏病诊断的准确性与敏感性很高,在胎儿产前心脏畸形筛查中意义重大,可作为首选检查方法。     

“3+1”复合超声切面筛查胎儿复杂先天性心脏病在二级医院应用的体会

目的:探讨"3+1"复合超声切面在二级妇幼保健院产前筛查胎儿心脏复杂畸形中的价值。方法:对自2010年1月至2012年10月,来我院进行产前筛查的4 538例孕妇应用"3+1"复合超声切面(四腔心+左、右心室流出道+三血管)进行胎儿心脏筛查,采集包括大血管起始位置、数目、内径和相对位置关系等数据。可疑异常病例经"绿色通道"转诊上级医院会诊,对证实确有复杂畸形的病例引产后争取尸检,继续妊娠者行出生后超声心动图检查。结果:4 538例中,应用"3+1"复合筛查切面疑及胎儿心脏畸形共53例,经三级会诊医院确定53例均为心脏结构异常。出生后超声及中止妊娠后胎儿尸检共证实先天性心脏异常73例。产前筛出复杂畸形36例,出生后超声心动图检查及尸检共确认复杂先天性心脏病(CHD)38例,证实产前筛查中漏诊2例,CHD的产前筛查灵敏度94.7%(36/38)。产前筛查发现的简单CHD以室间隔缺损为主,共13例,产前与生后不符3例(假阳性),生后证实室缺31例,产前漏诊21例(67.7%)。产前发现单纯肺动脉瓣狭窄2例,右位主动脉弓2例,与生后超声诊断相符。结论:"3+1"复合超声筛查切面容易掌握,能筛查出大部分复杂心脏畸形,可作为产前胎儿心脏畸形筛查的主要方法在基层推广使用。     

时间-空间相关成像技术诊断胎儿心脏畸形的应用研究

目的:探讨应用STIC技术诊断胎儿心脏畸形的应用价值。方法:对1 286例胎儿进行超声心动图顺序检查,检查过程中应用STIC技术采集心脏容积数据,数据存盘后进行图像后处理并脱机分析,对心脏畸形的胎儿超声心动图结果,与出生后复查超声心动图及引产后病理结果进行对照分析。结果:STIC技术结合胎儿超声心动图检出胎儿心脏异常189例,其中心脏复杂畸形36例,合计91处心脏畸形,STIC技术产前诊断胎儿心脏畸形的灵敏度(97.4%),特异度(99.6%),误诊率(0.4%),漏诊率(2.6%),总的符合率(99.2%)。结论 :STIC技术结合胎儿超声心动图诊断胎儿心脏畸形具有较高的灵敏度、特异度,对胎儿心脏畸形可以明确诊断。     

孕中期血清学、超声检查在胎儿染色体异常筛查中的应用

目的观察孕中期血清学、超声检查在胎儿染色体异常筛查中的应用效果。方法采用化学发光法测定38 165例单胎孕妇血清中甲胎蛋白、游离人绒毛膜促性腺激素和(或)游离雌三醇浓度,利用随机配载软件计算胎儿21-三体、18-三体和神经管畸形风险值;采用系统超声检查孕中期的10 727例孕妇。血清学提示高风险胎儿者及系统超声检查提示胎儿结构异常者行羊膜腔穿刺羊水细胞培养核型分析。结果血清学检查异常核型检出率为4.0%(69/1 708)。超声检查对各种先天结构异常检出率为2.2%(236/10 727),异常核型检出率为28.8%(49/170)。超声检查胎儿异常核型检出率高于血清学检查(P<0.01)。血清学或超声检查之一异常并接受羊膜腔穿刺者1 819例,其中异常核型者103例,阳性率为5.7%。血清学、超声检查均异常者59例,其中异常核型检出率为25.4%(15/59),高于单一血清学检查(P<0.01),但与单一超声检查比较无统计学差异。结论孕中期血清学检查胎儿染色体异常假阳性率高,超声检查胎儿染色体检出率高于血清学检查。以血清学检查为基础,联合超声检查,可以提高产前胎儿染色体异常筛查准确率。     

胎儿冠状静脉窦扩张的超声心动图诊断及误诊原因分析

目的:探讨胎儿冠状静脉窦扩张的超声心动图诊断临床意义及误诊原因分析。方法:2010年3月至2013年5月间,7 639例孕妇于我院接受产前胎儿超声心动图检查。结合出生后随访结果,回顾性分析冠状静脉窦扩张胎儿的超声心动图表现。结果:7 639例中共检出胎儿冠状静脉窦扩张60例(0.8%),其中单纯左位上腔静脉(PLSVC)28例(47%,28/60);合并心内其他畸形32例(53%,32/60)。初诊时误诊为原发孔房间隔缺损3例。结论:产前胎儿超声心动图可以诊断冠状静脉窦扩张及其合并心内畸形,对妊娠期胎儿的管理具有重要诊断价值和意义。     

胎儿超声心动图产前诊断先天性心脏病准确性评价

目的 评价胎儿超声心动图产前诊断先天性心脏病的准确性.方法 回顾2001年1月至2007年12月诊断为先天性心脏病胎儿的超声心动图资料,将产前诊断与胎儿心脏病理诊断或出生后新生儿超声心动图诊断结果进行比较.结果 研究期间共诊断胎儿先天性心脏病113例,初次检查时平均孕周为26.8周.79例(70%)行胎儿心脏病理检查或新生儿超声心动图检查确诊,其中68例产前诊断与产后诊断相符,产前诊断准确率86%.锥干畸形诊断准确率77%(24/31),间隔缺损96%(26/27),瓣膜畸形90%(9/10),单心室畸形83%(5/6).产前假阳性诊断4例,阳性预测值95%(75/79).结论 胎儿超声心动图检查是先天性心脏病产前诊断的有效方法,能够对各种常见类型的先天性心脏病进行准确诊断.完整的分段诊断是降低漏诊及误诊率,提高诊断准确性的关键.     

产前超声在筛查胎儿心血管畸形中的临床应用

目的:对胎儿心血管畸形筛查中产前超声价值展开分析.方法:将2020年1月至2020年6月我院76例行产前超声检查孕妇作为研究对象,均针对其实施产前超声筛查,比较检查结果和产后结果.结果:超声检查检出率较之于产后结果,P>0.05.结论:将产前超声应用于早孕期孕妇检查中,可对胎儿心血管畸形与异常状况予以有效掌握,临床诊断...     

辅助生殖技术胎儿产前诊断心血管异常的疾病谱分析

目的：分析应用辅助生殖技术（ART）胎儿的超声心动图结果，分析其合并心血管异常（CA）的疾病谱，为ART胎儿合并CA及其围产期管理提供参考。方法：回顾性分析于我院产前超声心动图诊断CA的ART胎儿243例。总结并分析其合并CA类型以及预后分级情况。结果：243例ART胎儿中，合并CA以心室-动脉连接异常为主（67/243,27.6%），其次为心室/室间隔异常（47/243,19.3%）和动脉系统（含动脉导管）异常（45/243,18.5%）。合并CA最常见为单纯室间隔缺损（33/243,13.6%），其次为永存左上腔静脉（28/243,11.5%）、右位主动弓（26/243,10.7%）。胎儿CA的预后分级中，Ⅰ、Ⅱ级的占比为63.0%(153/243),Ⅲ级为26.3%(64/243),Ⅳ级为10.7%(26/243)。结论：ART胎儿可合并各种CA，以室间隔缺损较多见。建议对ART胎儿常规行产前超声心动图检查，评估胎儿心脏结构及功能情况，为ART家庭的咨询提供更多指导。     

胎儿超声心动图诊断心脏异常的产前咨询与预后分析

目的分析超声心动图在胎儿心脏异常诊断中的应用价值,探讨产前咨询与预后分析在临床治疗中的应用效果。方法 94例检出胎儿心脏异常的产妇作为研究对象,将其分为观察组(产前咨询服务+预后分析)和对照组(常规治疗)各47例,观察两组产妇的分娩结局,评价其治疗效果。结果与对照组相比,观察组的胎儿存活率(93.62%>65.96%)相对更高(P<0.05),而中期引产率(4.26%<17.02%)、死亡率(2.13%<17.02%)、焦虑自评量表(SAS)评分[(40.25±3.17)分<(49.36±3.54)分]、抑郁自评量表(SDS)评分[(38.35±3.46)分<(48.25±3.91)分]相对更低(P<0.05)。结论应用超声心动图进行胎儿心脏异常的筛查,能够准确检出疾病。结合超声心动图诊断结果,做好产前咨询和预后分析工作,可以有效提升产前治疗效果,改善产妇的身心状态,进而获得良好的分娩结局,尽可能保障胎儿的健康安全。     

Prenatal diagnosis of thalassemia in Songklanagarind Hospital in southern Thailand

A thalassemia screening program for pregnant women has been established in Songklanagarind Hospital since 1992. After genetic counseling, a total of 5078 pregnant women accepted entry into a screening program for thalassemia. Couples at risk who should receive prenatal diagnosis were 2.8%. Total cases who accepted prenatal diagnosis were 135. Total clinical cases were 40 (29.6%) with achievement by prenatal diagnosis of 33 cases (82.5%). Genetic amniocentesis is the most acceptable method for prenatal diagnosis. Five cases (12.5%) were misdiagnosed due to contamination of maternal blood cells in amniotic fluid cases. Questionable results were reported in 2 cases (5%). Abortion occurred in one case (0.7%). Improvement of surgical technic in prenatal diagnosis reduced the complications and contamination of maternal cells. This program shows the feasibility of prevention and control of thalassemia disease in southern Thailand.     

唐氏筛查在妊娠中期孕妇产前检查中的应用价值

本文将针对处于妊娠中期的孕妇,在产前检查中采用唐氏筛查方法的实际应用价值。将2018年3月-2019年4月在我院接受产前检查的2120例孕妇作为此次研究对象,将这些孕妇分为低龄组与高龄组,低龄组孕妇年龄20-25岁,高龄组孕妇年龄>35岁,每组均为1060例孕妇。采用唐氏筛查高龄组高风险孕妇发现率为18.30%,低龄组高风险孕妇发现率为5.11%,差异有统计学意义(P<0.05)。高风险孕妇进行绒毛活检与羊膜腔穿刺检查,高龄组DS有6例,NTD有1例;DS检测阳性率为3.09%,NTD为0.52%。低龄组DS有2例,DS检测阳性率3.70%,对两组高风险孕妇进行产前诊断DS的阳性率间差异无统计学意义(P>0.05)。对两个年龄组低风险孕妇,进行无创DNA高通量筛查,发现高风险孕妇14例,经羊膜腔穿刺检查,产前确诊DS有1例。本次研究2120例孕妇,唐氏筛查发现DS的有效率为88.89%。     

Prenatal diagnosis for haemophilia: a nationwide survey among female carriers in the Netherlands

Carriers of haemophilia face difficult choices regarding prenatal diagnosis, but little is known about the determinants that influence their decisions. The aim of this study was to assess the incidence of prenatal diagnosis and potential determinants affecting the choice for prenatal diagnosis. A nationwide survey was performed among all women who underwent carriership testing for haemophilia in the Netherlands between 1992 and 2004. Prenatal diagnosis was assessed in 207 carriers of haemophilia A or B who had been pregnant. Prenatal diagnosis was categorized into early first trimester (Y-PCR testing or chorionic villus sampling) often intended to prevent the birth of a child with haemophilia, and into late prenatal diagnosis (amniocentesis or ultrasound assessment) aimed at obstetrical management. Of 207 carriers 112 (54%) underwent prenatal diagnosis. Forty-eight women underwent early prenatal diagnosis and 64 women underwent late prenatal diagnosis. In 26 pregnancies early prenatal diagnosis was positive for haemophilia, and in 18 of these pregnancies termination was opted for. The choice for early prenatal diagnosis was associated with a liberal view towards termination of pregnancy (relative risk (RR) 12.5; 95% confidence interval (CI) 3.1-51.2), severe haemophilia in the family (RR 20.2; CI 2.7-153.6), absence of a religion (RR 1.9; CI 1.1-3.1) and older age (RR 2.0; CI 1.0-3.9). The choice for late prenatal diagnosis was associated with birth year after 1970 (RR 2.3; CI 1.5-3.5) and a previous child with haemophilia (RR 2.2; CI 1.4-3.4). More than half of all Dutch haemophilia carriers underwent prenatal diagnosis. Several determinants were strongly associated with prenatal diagnosis.     

Prenatal and Early Postnatal Diagnosis of Congenital Toxoplasmosis in a Setting With No Systematic Screening in Pregnancy

To determine the risk of congenital toxoplasmosis (CT) and provide early (pre- or postnatal) identification of cases of CT in the absence of systematic screening in pregnancy.In the presented cross-sectional study, serological criteria were used to date Toxoplasma gondii infection versus conception in 80 pregnant women with fetal abnormalities or referred to as suspected of acute infection, and in 16 women after delivery of symptomatic neonates. A combination of serological, molecular (qPCR), and biological (bioassay) methods was used for prenatal and/or postnatal diagnosis of CT.Most (77.5%) pregnant women were examined in advanced pregnancy. Of all the examined seropositive women (n = 90), infection could not be ruled out to have occurred during pregnancy in 93.3%, of which the majority (69%) was dated to the periconceptual period. CT was diagnosed in 25 cases, of which 17 prenatally and 8 postnatally. Molecular diagnosis proved superior, but the diagnosis of CT based on bioassay in 7 instances and by Western blot in 2 neonates shows that other methods remain indispensable.In the absence of systematic screening in pregnancy, maternal infection is often diagnosed late, or even only when fetal/neonatal infection is suspected. In such situations, use of a complex algorithm involving a combination of serological, biological, and molecular methods allows for prenatal and/or early postnatal diagnosis of CT, but lacks the preventive capacity provided by early maternal treatment.     

Mitral valve prolapse: comparative value of m-mode, two-dimensional and doppler echocardiography

M-mode, two-dimensional and Doppler echocardiography were used to assess the comparative value of each in the detection of clinically diagnosed mitral valve prolapse; 125 consecutive patients with a mid- to late systolic click, with or without a late systolic murmur, were included. There were 46 men and 79 women; their mean age was 42 years. M-mode echocardiography detected 62 of 125 cases (sensitivity 50%). Two-dimensional echocardiography was positive in 85 cases (sensitivity 68%) and 90 cases were detected with Doppler echocardiography (sensitivity 72%). When all three techniques were combined, 116 cases were correctly diagnosed (total echographic sensitivity 93%). The relative insensitivity of the M-mode technique and the additive value of two-dimensional and Doppler echocardiography in the detection of auscultatory mitral prolapse are emphasized.     

先天性心脏病筛查治疗和监测网络平台建立与规范化管理的研究

目的:探索北京市先天性心脏病(先心病)筛查、治疗及监测网络模式,以提高先心病管理水平,降低北京市复杂先心病出生率及死亡率。方法:2007年1月至2009年6月,对北京6家二级妇幼保健院医生进行先心病知识、胎儿超声心动图技术培训。前瞻性研究胎儿先心病产前筛查,复杂先心病终止妊娠后尸检与诊断符合率,活产新生儿72h内超声心动图结果。同期开发网络直报及监测系统。结果:1.入组孕妇17721例,平均孕周23.2(16～28周)。产前筛查出先心病121例(6.83‰),其中复杂先心病100例,97例引产,59例尸检诊断符合率96.7%;2.先心病产前筛查技术培训使基层医生筛查水平整体提高。3.成功开发并试用"先心病母婴数据采集系统"网络直报。结论:建立北京市先心病筛查、治疗及监测网络,对降低复杂先心病的出生率及死亡率,规范先心病治疗及随访的科学化管理有积极临床意义和社会价值。     

Early Prenatal Diagnosis of Thalassemia: The First Report of Experience in Mainland China

In this study, we report our experience with chorionic villus sampling (CVS) for prenatal diagnosis of thalassemia in mainland China. During a 4-year period, 308 pregnant women chose to have CVS for prenatal diagnosis. Chorionic villus sampling was successful in all cases, and post-CVS abortion was seen in only two cases (0.6%). DNA diagnosis was correctly done in 307 (99.7%) prenatal samples but maternal contamination was found in one (0.3%) subject. In total, 77 pregnancies were found with an affected fetus, and all of the affected pregnancies were terminated within 1 week after the CVS procedure. Our experience indicates that CVS is a feasible and effective technique for prenatal diagnosis of thalassemia.