胎儿泌尿系统异常超声诊断及随访

胎儿泌尿系统异常直接关系到围生儿生存与预后。胎儿泌尿系统异常存在巨大变异性，可从致命性先天性畸形到轻度的泌尿道梗阻，同时囊性和梗阻性肾脏疾病也存在极大变异性。故随着超声诊断技术的发展，对胎儿泌尿系统异常诊断越来越准确，对优生优育及临床处理有一定指导意义。     

超声诊断胎儿肺部异常的价值

目的:探讨超声诊断胎儿肺部异常的价值。方法:用VOLUSON-E8型彩色多普勒超声诊断仪检查。结果:18例经产前系统超声检查发现并尸检及产后证实为胎儿肺部异常,其中11例为肺囊腺瘤畸形,肺隔离症3例,先天性膈疝3例,先天性高位气道闭锁1例。结论:系统产前超声检查可观察胎儿肺发育情况及诊断胎儿肺部异常,并可重复检查,动态观察,有助于及早终止妊娠,实现优生优育。     

产前超声诊断胎儿泌尿系统异常分析

【目的】分析胎儿泌尿系统异常的超声诊断,动态观察其变化与预后。【方法】对1998年1月~2006年6月超声诊断胎儿泌尿系统异常共123例进行分类,随访其结局。【结果】123例中胎儿单纯肾盂积水102例,占82.9%;肾盂积水伴输尿管积水5例,占4.0%;肾盂积水并输尿管积水同时伴巨大膀胱2例,占1.6%;多囊肾5例,占4.0%;胎儿肾缺如3例,占2.4%;肾发育不完全4例,占3.3%;重复肾2例,占1.6%。【结论】超声诊断胎儿泌尿系统异常具有较高临床价值。除单纯肾盂积水可保守治疗及严密随访外,其它胎儿泌尿系统明显畸形,一旦确诊就及早终止妊娠。     

超声诊断胎儿骨骼发育异常1例

孕妇23岁，G1P0，孕33W，既往健康，因在乡镇计划生育服务站常规行产前检查，疑为胎儿左肾积水，故来我县计划生育服务站。孕期无接触传染病，无服药史，无放射性物质及化学毒性接触史。超声所见：单胎臀位，双顶径8．3cm，头颅光环不很鲜明，颅骨回声较弱，较正常薄，脊柱排列规整，胎儿搏动     

超声检查对胎儿颅内异常的诊断价值

[目的]探讨超声检查对胎儿颅内异常的诊断价值. [方法]回顾性分析2007年1月～2009年12月8 000例孕妇产前超声检查情况,观察胎儿颅内结构及异常类型. [结果]检出胎儿颅内异常85例,其中脑室扩张46例,脉络膜囊肿27例,全前脑8例,Dandy-Walker畸形3例,Galen静脉瘤1例.本组大部分病例经引产后证实. [结论]超声检查是诊断胎儿颅内异常较直观、可靠的影像学方法.     

超声诊断在胎儿发育异常中的应用

产前超声诊断是进行胎儿宫内发育异常检查的有效手段之一,包括胎儿非整倍体筛查和结构筛查。随着各个地区早孕期筛查的开展,早孕期的超声指标与母亲的血清学指标结合可以对母体、胎儿的许多合并症、并发症进行筛查。本文综述了超声诊断在早、中、晚孕期的应用。     

胎儿裂畸形的超声诊断

近年来,随着超声仪器的进展和超声技术的提高,对胎儿的多数畸形均能在产前作出正确的诊断。我站自1995年以来开展的孕期保健工作中,对21006例孕20周以上的孕妇进行常规B超检查,共查出唇腭裂畸形儿15例,现报道如下。 一、资料与方法 使用ALOKaSSD——1100型超声诊断仪,探头频率为3.5MHz。孕龄为20～40周。方法为:在测量胎儿双顶径后,将探头声束朝向颜面部,显示眼眶、鼻骨回声后,将探头向一侧缓慢转动,直至显示口唇上下唇及鼻部结构,仔细观察口唇形态。如遇胎儿的张嘴动作时,图像更加     

产前超声诊断胎儿主动脉弓异常的特征分析

目的探讨产前超声诊断胎儿主动脉弓异常的特征。方法选择2013年4月-2015年10月在巴南区人民医院进行产检的10 380例孕妇进行诊断。经过超声初步检查有82例孕妇存在主动脉异常情况,其中的13例因为各种原因未进行下一步诊断,另外69例产妇采取病理诊断方法进行进一步追踪探访确认,观察经超声诊断后的图像,并对主动脉弓异常患者形态改变以及其他畸形症状进行统计,计算准确率。结果 69例产妇患者中有35例为主动脉弓右侧以及分支合并畸形,双主动脉弓4例,24例为单纯主动脉弓异常,其中有15例狭窄型和9例离断型。超声诊断的主动脉弓离断、缩窄、分支异常、双主动脉弓的诊断准确率分别为73.33%、85.00%、89.19%、80.00%。通过超声诊断的心内畸形以及心外畸形症状数高于通过病理诊断(P<0.05)。结论超声诊断用于产前胎儿主动脉弓异常检测安全性和准确度较高,可以有效减少主动脉弓异常胎儿的出生率。     

胎儿畸形的超声诊断价值

目的 探讨超声诊断胎儿畸形的临床价值.方法 对经引产或分娩证实的51例胎儿畸形进行回顾性分析.结果 51例畸形胎儿中产前超声诊断49例,符合率96.1%（49/51）,其中以神经管畸形最多,占56.9%（29/51）,漏诊2例.结论 超声检查能确定胎儿有无结构畸形,诊断率高,且无损伤性,操作简便,重复性强,可作为常规产前筛查胎儿畸形的首选方法.     

三维超声对胎儿颜面部结构异常的诊断价值

目的探讨三维超声检查对胎儿颜面部畸形的产前诊断价值。方法利用Voulson E8对2069例孕18—40周孕妇进行超声检查,并对胎儿颜面部结构进行三维成像,同时对颜面部结构异常者运用三维成像技术进行系统分析。结果2069例中发现颜面部异常119例,单发畸形99例、多发畸形6例、伴发其他结构异常14例;漏诊2例、误诊1例;敏感性为98．3％,特异性为99．2％。结论三维超声能够准确、直观地检测出胎儿颜面部结构异常。     

胎儿骨骼系统畸形的产前超声诊断分析

目的探讨产前超声诊断胎儿骨骼系统畸形的临床价值。方法回顾性分析2013年1月-2015年6月在广西妇幼保健院经超声诊断为胎儿骨骼系统畸形并经追踪随访证实的患者资料。结果 343例胎儿纳入该研究,超声诊断完全符合332例,符合率为96.79%(332/343),基本符合11例,占3.21%(11/343),完全误诊3例足内翻;343例超声确诊的患者中,早中孕期有313例(91.25%),晚孕期有30例(8.75%);致死性骨骼发育异常19例,非致死性骨骼发育异常324例;骨骼系统畸形主要为肢体姿势异常、肢体缺失、脊柱畸形、指(趾)畸形、短肢畸形等;单纯骨骼系统畸形161例(46.94%),合并其他系统畸形182例(53.06%),以中枢神经系统畸形和心脏畸形多见。结论产前超声是筛查胎儿骨骼系统畸形的主要手段,只有早孕期(孕周11~13+6周)、中孕期(孕周20~24周)、晚孕期(孕周30~34周)联合筛查,才能提高胎儿骨骼系统畸形的检出率,最大限度地减少该类畸形儿的出生。     

胎儿先天缺陷磁共振诊断的应用

快速磁共振成像技术的出现,在胎儿的形态学诊断的应用,已成为超声诊断的一项重要辅助手段.特别对胎儿中枢神经系统先天缺陷的诊断方面比超声提供更多的信息.对消化系统、泌尿系统畸形的诊断也有重要的辅助作用,而在肢端、心脏方面诊断不如超声.其适时性和伪影问题仍有待于进一步发展.     

1670例胎儿畸形的超声诊断

目的:提高超声对胎儿畸形的诊断符合率,避免漏诊。方法:对2006年1月～2010年8月在广西壮族自治区妇女儿童医院产前超声检出的畸形胎儿进行追踪随访,经分娩、引产或尸检证实畸形。结果:超声共检查孕妇158 649例,检出胎儿畸形1 670例,共2 055个畸形,畸形检出率为10.53‰;共检出致死性畸形156例,严重畸形1500例,轻微畸形14例,产前诊断与产后完全符合1 646例,符合率为98.56%;部分符合24例;漏诊27个畸形,畸形漏诊率为1.31%。羊水穿刺检出染色体核型异常78例,畸形排名位于前三位的分别是胎儿水肿综合征、中枢神经系统畸形及颜面部畸形。结论:产前超声筛查是目前诊断胎儿畸形的首选方法,部分胎儿畸形检出时间可提前到孕12周前。     

Rapid diagnosis of fetal chromosomal abnormalities by fluorescence in situ hybridization

INTRODUCTION: In the course of the Down-screening protocol there are possibilities today for rapid diagnosis of aneuploidies among high-risk pregnancies identified by non-invasive screening tests, however, the diagnostic value of these molecular genetic tests are debated. AIM OF THE STUDY: In this prospective study, data about the reliability of one of the rapid tests, namely; interphase fluorescence in situ hybridization (int-FISH) was to be gathered by the authors. METHODS: For the period between May 2002 and September 2006 all of the 1279 fetal sample were examined both with int-FISH and full karyotyping. RESULTS: Extra or absent signal was detected in 47 cases (3.7%) (trisomy 21 in 32, various other numerical abnormalities in 15 cases). All of these numerical aberrations were confirmed by metaphase analysis without false positivity or negativity. In 19 cases the finding of int-FISH was negative, however, full karyotyping disclosed abnormalities (in 12 of these 19 cases, the abnormality was balanced). Only 4 of the 1279 fetuses (0.3%) (3 small extra marker chromosomes, 1 de novo unbalanced translocation) were to be found, who would have been born with phenotypical abnormalities without metaphase analysis (2 of them had suspect ultrasound signs). CONCLUSION: Although more analysis are needed, based on the results of this study it is to be concluded that rapid molecular genetic methods like int-FISH might be accepted as a diagnostic tests of fetal aneuploidy, if its use were restricted to high risk pregnancies identified by advanced maternal age and non-invasive maternal screening only. However, full karyotyping is needed in cases with familial translocation and abnormal 2nd trimester ultrasound signs.     

产前超声诊断胎儿神经系统畸形的临床价值

目的 探讨产前常规超声检查在胎儿神经系统畸形筛查方面的临床应用价值.方法 对27例经随访及引产证实的中枢神经系统畸形胎儿进行回顾性分析.结果 27例畸形儿中,其中脊柱裂和脊髓脊膜膨出11例,Dandy-Walker畸形3例,脑脊膜膨出3例,脑积水3例,无脑儿1例,全前脑2例,胼胝体发育不全2例,脉络丛囊肿1例,蛛网膜囊肿1例,产前超声诊断准确率为88.90%,误诊率7.40%,漏诊率7.40%.结论 产前超声检查对胎儿中枢神经系统畸形诊断准确率高,具有十分重要的临床应用价值.     

Computed tomography of asbestos-related pleural abnormalities

OBJECTIVES: To study the observer agreement in several asbestos-related pleural abnormalities and to define criteria to discriminate between pleural changes in workers with occupational disease, and those in controls. METHODS: Pleural abnormalities in spiral computed tomography of 602 construction workers with asbestosis or bilateral pleural plaques and 49 controls were reviewed by three radiologists using structured forms. RESULTS: Intra- and inter-observer agreement (weighted kappa) was 0.4 or better with regard to the calcification, extent and thickness of pleural disease. These factors all correlated positively with the duration of asbestos exposure. There were significant differences in these pleural changes between the workers (mean extent per side 83 cm(2)) and controls (mean extent per side 40 cm(2)). Of the controls, 84% showed pleural lesions with an estimated extent of 10 cm(2) or more, bilateral in 64%. The extent of 45 cm(2) in pleural disease was the best value for discriminating between the controls and diseased workers, with a sensitivity of 82% and a specificity of 66%. The degree of pleural calcification, however, was the best discriminator between these groups, but quantitative methods are necessary for its use in the diagnostics of individuals. CONCLUSIONS: The extent, calcification and thickness were well-repeatable indicators of benign pleural pathology and thus their use in future classification systems in computed tomography is recommended. In our material, the extent of 45 cm(2) and the degree of calcification were helpful in discriminating between pleural changes in workers with occupational disease, and those in controls who also presented marked pleural pathology.     

细菌人工染色体微珠技术标记在胎儿染色体疾病诊断中的应用价值研究

目的探讨细菌人工染色体微珠标记技术(Bobs)在胎儿染色体疾病诊断中的应用价值。方法对1 056例行羊膜腔穿刺术的胎儿羊水细胞行染色体核型分析及Bobs检测,对部分Bobs检测阳性样本行染色体微阵列、荧光原位杂交方法验证。结果 Bobs准确验证了核型分析发现的所有16例染色体非整倍体异常、1例Wolf-Hirschhorn综合征以及3例性染色体异常嵌合体,此外在核型正常样本中检出2例22q11微重复以及1例母体细胞污染病例。结论相较于染色体核型分析,Bobs具有通量高、检验快速及分析简便的优势,适宜作为介入性产前诊断的常规补充项目。     

超声监测颈项透明层厚度在胎儿染色体异常诊断中的价值

目的分析探讨超声监测颈项透明层(NT)厚度在胎儿染色体异常中的诊断价值。方法选取2013年1月-2016年12月在该院行孕早期(孕11~13~(+6)周)超声检查的孕妇9 780例,对入选孕妇行超声测量,NT增厚胎儿行染色体核型分析,并追踪至出生后。结果 9 780例孕妇中有112例NT增厚(NT≥2.5 mm),发生率为1.15%。检测出染色体异常者19例,染色体异常发生率为16.96%,其中染色体数目异常15例,染色体结构异常4例。染色体数目异常患儿中发生率最高的是21-三体综合征(9例,60.00%)。染色体核型异常患儿中,各个年龄段产妇比较差异有统计学意义(P0.05),其中以年龄35岁产妇染色体异常检测率居高(30.23%);出生婴儿性别比较,差异有统计学意义(P0.01),其中以女性胎儿染色体异常检测率居高(30.0%);NT厚度比较差异有统计学意义(P0.05),其中以NT5.5 mm者染色体异常检测率居高(35.71%)。NT增厚与染色体异常呈正相关(r=-0.286,P=0.001)。Logistic回归分析结果显示,随着NT厚度测量值的增加,胎儿染色体异常的发病风险也明显增加。结论在孕早期通过超声监测胎儿NT厚度筛查胎儿染色体异常具有重要的临床价值,是产前筛查的重要指标之一。     

Abortion for fetal indications: Timing of prenatal diagnosis and abortion for structural and genetic abnormalities

ObjectiveTo compare diagnoses in patients undergoing abortion for fetal indications at 15–0/7 to 21–6/7 vs. ≥22–0/7 weeks’ gestation.Study designThis retrospective cohort study included women undergoing abortion at ≥15–0/7 weeks’ gestation for fetal indications from 2012 to 2018 at our institution. We compared indications (genetic vs. structural only) between groups by gestational age (15–0/7 to 21–6/7 vs. ≥22–0/7 weeks). We performed statistical analysis using Fisher’s exact and Mann-Whitney U tests.ResultsThe 158 women identified included 97 (61.4%) at 15–0/7 to 21–6/7 and 61 (38.6%) at ≥22–0/7 weeks’ gestation. Women at an earlier gestational age more commonly had an initial diagnosis of a genetic disorder (41 [42.3%)] vs.10 [16.4%], respectively, p < .001). In 69 cases with initial or subsequent diagnosis of a genetic disorder, there were differences in the types of genetic abnormalities, with common chromosomal abnormalities (including Trisomies 13, 18, and 21) the most frequent diagnosis in those who underwent abortion at 15–0/7 to 21–6/7 weeks and microarray abnormalities more common at ≥22–0/7 weeks (22 [44.9%] vs. 4 [18.2%]) and 7 [14.9%] vs. 11 [50.0%], respectively, p = .01). Routine ultrasonography for fetal anomaly surveillance occurred one week earlier in women undergoing abortion for structural anomalies at 15–0/7 to 21–6/7weeks (median 19–2/7 weeks [interquartile range (IQR) 19 0/7 to 19–5/7 weeks]) compared to ≥22–0/7 weeks (median 20–2/7 weeks [IQR 19 6/7 to 20 4/7 weeks]), p < .001.ConclusionAbortions for genetic indications are performed earlier in gestation compared to those performed for structural abnormalities. Timing of fetal anatomy ultrasound examination correlated with gestational age at abortion for structural abnormalities.ImplicationsMany states impose gestational-age based abortion bans, with 20-weeks post-fertilization the most common. However, we may not identify fetal abnormalities until close to 22 weeks gestation (20-weeks post-fertilization). Optimizing timing of prenatal diagnosis might mitigate the impact of gestational-age based abortion bans.