超声检查在诊断胎儿畸形中的应用价值探讨

目的:探讨超声检查在产前筛查胎儿畸形中的临床应用价值.方法:回顾性分析我院2009年1月～2011年1月妇产科常规超声检查6226例,其中检出胎儿畸形181例,漏诊3例.结果:通过常规超声检查,胎儿畸形检出率为2.9％(181/6226),多数经引产,手术或追踪随访证实.结论:产前超声检查能及早确定胎儿有无发育畸形,且诊断率高,无创,操作简便,重复操作性强,具有十分重要的临床诊断价值.     

产前超声胎儿畸形筛查及产后超声随访的应用研究

目的研究产前超声畸形筛查及产后超声随访在非产前诊断医院中的应用。方法回顾性分析笔者所在医院2008~2011年诊断为胎儿畸形的资料,对比2006~2008年检出畸形胎儿的资料,对检出的数量及结构进行比较。结果阻止畸形胎儿出生数,检出畸形的种类均明显高于开展产前系统超声检查前,开展产后超声随访有效的避免医疗纠纷的发生。结论在非产前诊断医院,特别是县市级医院合理开展系统超声胎儿畸形筛查能对优生优育起到很大的促进作用。     

超声在诊断胎儿颜面畸形中的应用价值及颜面部畸形与染色体异常的关系研究

目的:探究超声在诊断胎儿颜面畸形中的临床价值,进一步分析颜面部畸形与染色体异常的关系。方法:回顾性分析2018年12月-2019年7月在笔者医院超声科行产前筛查的1533例孕妇的资料,以超声筛查胎儿颜面部异常者(超声异常组,n=30)和超声筛查胎儿颜面部正常但具有高危因素者(超声正常高危组,n=66)作为研究对象。记录超声及染色体检查结果,分析颜面部畸形与染色体异常的关系。结果:30例超声筛查颜面部异常胎儿中,8例单纯颜面部异常,22例颜面部异常合并其他异常。超声异常合并其他异常组NT厚度显著高于超声单纯异常组和超声正常高危组,差异有统计学意义(P<0.05)。超声异常组胎儿染色体异变率为20.00%,显著高于超声正常高危组的4.55%,差异有统计学意义(P<0.05)。结论:产前筛查中应用超声诊断可以明显提高染色体异常胎儿的检出率,值得临床推广应用。     

彩色多普勒超声在胎儿畸形诊断中的应用

目的:探讨彩色多普勒超声检查确诊胎儿畸形的应用价值。方法:采用彩色多普勒超声仪对孕18～40周的孕妇进行系统检查。结果:本次检查的125例孕妇患者中,共有6例胎儿畸形,畸形发生率为4.8%,共检查出5例胎儿畸形,1例漏诊,检出的胎儿畸形符合率为100%。结论:彩色多普勒超声确诊胎儿畸形诊断率高、分辨性强,在胎儿畸形产前筛查中具有重要的诊断价值,值得临床推广。     

彩色多普勒超声在高龄孕妇中对泌尿系统畸形胎儿的产前诊断价值分析

目的 分析不同类型泌尿系统畸形胎儿的彩色多普勒超声声像图的特征,评价彩色多普勒超声对高龄孕妇在产前诊断泌尿系统畸形胎儿的临床研究和诊断价值.方法 随机选择2014年3月至2016年2月本院接收的1 642例平均年龄为35.2岁且孕周为14~38周的孕妇,进行彩色多普勒常规检查,同时观测孕妇腹中胎儿的健康状况,收集对孕妇以及胎儿的临床资料和彩色多普勒超声声像特征并进行统计分析,并对怀疑为泌尿系统畸形的胎儿进行随访验证.对检测出泌尿系统畸形胎儿、疑似泌尿系统畸形胎儿和漏诊的病例,在分娩后进行彩色多普勒超声诊断和随访,将随访的结果与产前彩色多普勒超声检查的统计结果相对照.结果 通过彩色多普勒超声检测1 642例孕妇,对其超声声像特征的资料进行分析,根据超声声像图特征做出诊断.检测发现有42例泌尿系统畸形的胎儿,包含肾发育不良胎儿4例,占9.5%;多囊性发育不良8例,占19.04%;肾盂扩张15例,占35.7%;肾积水6例,占14.3%;肾缺如7例,占16.7%;巨膀胱1例,占2.4%;尿道下裂1例,占2.4%;进行产前彩色多普勒超声检测的诊断结果与分娩后检查和随访结果一致,其中一例被误诊,产妇分娩后病症消失.结论 产前对高龄孕妇进行彩色多普勒超声检查,诊断出泌尿系统畸形胎儿的准确率较高.利用彩色多普勒超声检测,使得泌尿系统畸形胎儿在产前即可作出诊断,为临床诊断、采取措施和预后评估提供了可靠且重要的依据.     

产前超声筛查胎儿骨骼畸形与染色体微阵列分析特征的相关性分析

目的探讨产前超声筛查胎儿骨骼畸形与染色体微阵列分析特征的相关性。方法回顾性分析2019年1～10月于我院进行超声筛查确诊胎儿骨骼畸形的的孕妇病历资料64例。所有孕妇均进行染色体核型分析结果正常后行CMA检查。根据CMA分析的拷贝数变异(CNVs)结果将所有患者分为致病性(pCNVs)、良性CNVs和临床意义不明性(Vous)3种类型,比较3种类型患者的基本资料及超声检查结果,统计分析CMA结果的影响因素。结果所有患者均不同程度存在CNVs,CNVs个数范围1～7个,平均CNVs个数(3.47±1.04)个,CNVs片段大小0.17～5.73 Mb,平均大小(3.94±1.98)Mb。其中13例患者检出pCNVs,10例患者检出Vous,41例患者检出良性CNVs。相较于良性CNVs患者,心/胸比增大和股骨长/腹围比减小是pCNVs患者的独立影响因素(P0.05)。结论骨骼畸形胎儿超声产前筛查与CMA检查特征存在显著相关性,可以将二者结合运用于骨骼发育异常的产前检查中,有助于进一步明确诊断结果。     

174例胎儿畸形的超声诊断分析

目的:对174例18-22周胎儿畸形进行分类总结.方法:美国GE-V730多普勃起声诊断仪对胎儿各部位、器官及附属物进行超声检查.结果;9548例孕妇检查出174例胎儿畸形,检出率18.2%.其中中枢神经系统和心血管系统畸形104例,单发畸形138例,多发复合畸形36饲.结论:妊娠18～22周是筛查胎儿畸形的最佳时机.     

产前超声诊断脐带囊肿

目的分析脐带囊肿的超声声像图特点及相关临床资料。方法回顾性分析产前超声检查发现的33胎脐带囊肿胎儿的超声声像图特征及临床、随访资料。结果单纯脐带囊肿11胎（其中脐尿管囊肿2胎）,脐带囊肿合并多发畸形22胎（22/33,66.67%）,以合并心血管及神经系统畸形多见。结论脐带囊肿常合并多发畸形,单纯性脐带囊肿预后较好。产前超声筛查可提供重要的诊断信息。     

超声诊断单脐动脉与伴发胎儿畸形

目的观察产前超声诊断单脐动脉（SUA）与伴发胎儿各系统畸形的关系。方法回顾性分析我院超声诊断的71胎SUA的超声资料,并与产后及病理学检查结果进行对照分析。结果34胎SUA（47．89％）胎儿伴发畸形,其中心血管系统畸形居首（15／34,44．12％）,次为泌尿系统畸形（11／34,32．35％）;SUA合并心内强回声灶（EIF）胎儿中,心血管系统畸形发生率约41．18％（7／17）,高于无EIF胎儿（8／54,14．81％,P〈0．05）;SUA合并中枢神经系统畸形发生率约20．59％（7／34）;SUA伴发畸形中,44．12％（15／34）为复合畸形。结论SUA胎儿伴发畸形率高,产前超声应对SUA胎儿各系统依序进行筛查并动态随访。     

胎儿主动脉弓离断的产前超声诊断现状

主动脉弓离断是一种罕见的严重先天性心脏病,胎儿期死亡率极高,其胚胎学起源复杂,表现形式多样,且多合并其他畸形,产前超声诊断困难。超声心动图作为目前临床常用的胎儿心脏检查手段,在先天性心脏病的筛查中发挥重要作用。本文主要从二维超声、三维超声在诊断中的应用及超声鉴别诊断方面对胎儿主动脉弓离断的产前超声诊断现状进行综述。     

Persistent cloaca: are we ready for a correct prenatal diagnosis?

Cloacal malformations are rare and can present in variable aspects. The importance of ultrasound in detecting these anomalies is well known. Sonographic features vary in accordance with the type of malformation and the gestational age. A positive diagnosis is not possible because of the lack of specific ultrasound findings, which can show similar aspects to other abnormalities. We present 3 cases of prenatal diagnosis of this malformation, emphasizing that in the presence of a plurilobed cystic pelvic fetal mass with associated malformations, such as cardiac, renal, and vertebral anomalies, a persistent cloaca can reasonably be suspected.     

Routine prenatal screening policy of fetal malformations by both maternal serum alpha-fetoprotein and ultrasound in eastern Hungary

Since January 1979, at our Genetic Counselling Unit in Debrecen all pregnancies at high risk for any reason have been screened sequentially by serum alpha-fetoprotein estimation (at the 16th week) and by ultrasound examination (18th week). This screening policy covered 1200-1500 consultations per year. From July 1983, the same prenatal screening policy has been extended to cover the whole pregnant population of two large counties in Eastern Hungary. In a six-year period over 300 fetal malformations were diagnosed. Details of the screening policy and the main groups of malformations diagnosed prenatally are demonstrated.     

Sonocubic fine: new three-dimensional ultrasound software to the screening of congenital heart diseases

Congenital heart disease is the most common fetal congenital malformations; however, the prenatal rate detection still is low. The two-dimensional echocardiography is the "gold standard" exam to screening and diagnosis of congenital heart disease during the prenatal; however, this exam is operator-depending and it is realized only in high risk pregnancies. Spatio-temporal image correlation is a three-dimensional ultrasound software that analyses the fetal heart and your connections in the multiplanar and rendering modes; however, spatio-temporal image correlation too is operator-depending and time-consuming. We presenting a new three-dimensional software named Sonocubic fine to the screening of congenital heart disease. This software applies intelligent navigation technology to spatio-temporal image correlation volume datasets to automatically generate nine fetal echocardiography standard views. Thus, this new software tends to be less operator-depending and time-consuming.     

产前超声诊断胎儿尿道下裂进展

尿道下裂是胎儿常见泌尿系统先天畸形。产前二维及三维超声检查均可用于诊断胎儿尿道下裂,二者联合可提高诊断效能;在此基础上进行彩色多普勒超声检查可进一步明确尿道开口位置,提高诊断准确率,降低误诊率。本文对产前超声诊断胎儿尿道下裂进展进行综述。     

超声研究胎儿胰腺发育的现状

胰腺异常属罕见先天性畸形,环状胰腺胎儿常伴发多种畸形,病死率高且预后差,产前超声早期诊断对降低围生期死亡率具有重要意义。由于胎儿胰腺位置隐蔽且体积小,在产前超声检查中常易被忽视。近年来,随着产前超声检查技术不断进步及产科检查需求更加全面、细致,利用产前超声观察胎儿胰腺大小、形态及回声越来越受到关注。本文主要对胰腺的胚胎发育、胎儿胰腺的解剖学基础及超声检查研究等进展进行综述。     

Implications of prenatal ultrasound screening in the incidence of major genitourinary malformations

PURPOSE: During the last 3 decades infant mortality has decreased nearly 50%. While neonatal intensive care deserves much of the credit, the recent increase in prenatal ultrasound from 33% of pregnancies in 1980 to 78% in 1987 has improved early detection. We evaluate the impact of prenatal ultrasound on major genitourinary malformations. MATERIALS AND METHODS: Data obtained from the Malformations Surveillance Program at Brigham and Women's Hospital between 1974 and 1994 tracked 163,431 pregnancies and termination rates of fetuses with spina bifida, bladder exstrophy, the prune belly syndrome and posterior urethral valves. RESULTS: Hospital data revealed that pregnancy was electively terminated due to spina bifida in 65% of cases, posterior urethral valves in 46%, the prune belly syndrome in 31% and exstrophy in 25%. CONCLUSIONS: Clearly, surveillance programs and improved accuracy of prenatal ultrasound have allowed early diagnosis of major genitourinary malformations. Many factors influence decision making in these affected fetal cases, including the financial and emotional impact of these major anomalies during lifetime. Future societal decisions and reduction in these anomalies may influence our training programs, manpower needs, medical facility requirements and character of our practices. These findings may have significant implications in the field of pediatric urology.     

Prenatal ultrasound-and MRI-based imaging predictors of respiratory symptoms at birth for congenital lung malformations

BackgroundCongenital lung malformations (CLM) are rare developmental anomalies of the fetal lung with a minority of patients exhibiting symptoms around the time of birth. Although ultrasound remains the gold standard, fetal MRI has recently been incorporated as an adjunct imaging modality in the workup and prenatal counseling of patients with CLM as it is thought to more accurately delineate lesion boundaries and diagnose lesion type. We evaluate what prenatal variables correlate with postnatal respiratory symptoms.MethodsWe performed a retrospective review of patients with prenatal diagnosis of CLM treated at our institution between 2006-2020. Fetal ultrasound and magnetic resonance imaging (MRI) parameters including maximal congenital pulmonary airway malformation volume ratio (CVR), absolute cyst volume, and observed to expected normal fetal lung volume (O/E NFLV) were correlated with outcomes including postnatal respiratory symptoms, need for supplementary oxygen or mechanical ventilation, delay in tolerating full feeds, resection in the neonatal period.ResultsOur study included 111 patients, all of whom underwent fetal ultrasound with 64 patients additionally undergoing fetal MRI. Postnatal respiratory symptoms were noted in 22.5% of patients, 19.8% required supplemental oxygen, 2.7% mechanical ventilation and two patients requiring urgent resection. Ultrasound parameters including absolute cyst volume and maximal CVR correlated with need for mechanical ventilation (p=0.034 and p=0.024, respectively) and for urgent resection (p=0.018 and p=0.023, respectively) and had a marginal association with postnatal respiratory symptoms (p=0.050 and p=0.052). Absolute cyst volume became associated with postnatal respiratory symptoms (p=0.017) after multivariable analysis controlling for maternal steroid administration and gestational age. O/E NFLV did not correlate with perinatal outcomes.ConclusionWe have found that ultrasound-based measurements correlate with postnatal respiratory symptoms, while MRI derived O/E NFLV does not. Further studies are needed to elucidate the role of MRI in the prenatal workup of congenital lung malformations.Type of StudyStudy of Diagnostic Test.Level of EvidenceLevel I.     

早孕期颅脑超声诊断胎儿颅内畸形

目的探讨早孕期颅脑超声诊断胎儿颅内畸形的价值。方法回顾性分析3800胎早孕期胎儿的常规颅脑超声资料,与随访结果相对照。结果产前胎儿颅脑超声共发现颅脑畸形51胎。其中无脑儿13胎,未见圆形颅骨环、无大脑组织结构;露脑畸形6胎,见大部分颅盖骨缺失,脑组织外露;脊柱裂2胎,见"柠檬头"征;全前脑5胎,见单个扩张的脑室,无大脑镰;脑膜脑膨出13胎,见颅骨高回声环延续性中断,缺损处见局部向外突出囊性物;颈部水囊瘤12胎,见头颅颈后多房性囊肿。漏诊露脑畸形2胎、全前脑6胎、脊柱裂2胎,均于中孕期检出。所有畸形胎儿均经引产获证实,其中28胎合并染色体异常。结论早孕期胎儿颅脑超声在检出胎儿颅脑畸形中具有重要临床价值。