先天性子宫畸形的磁共振诊断价值

目的：探讨磁共振对先天性子宫畸形的诊断价值。方法：回顾性分析34例先天性子宫畸形的MRI、超声及临床资料,结果与宫腔镜和/或腹腔镜检查结果对照。结果：以宫腔镜和/或腹腔镜检查结果为金标准,MRI、超声诊断子宫畸形的准确率为97.1%和85.3%。结论：MRI能清楚显示宫底外形轮廓和宫腔结构,是诊断先天性子宫畸形的最佳无创性检查方法之一。     

mri在诊断内耳畸形中的价值

目的:探讨磁共振成像(Magnetic Resonance Imaging,MRI)对不同类型的内耳畸形的诊断价值.材料与方法:收集30例经临床确诊为先天性耳聋患儿,并行MRI扫描.结果:双侧内耳畸形29例,单侧内耳畸形1例,共59耳.双侧耳蜗畸形24例;双侧大前庭导水管畸形21例;半规管畸形7例,其中2例为单侧、5例为双侧.结论:MRI可清晰显示内耳畸形.     

MRI诊断先天性环枕畸形

ＭＲＩ诊断先天性环枕畸形余永强，王仁贵，李松年本文观察了２５例先天性环枕畸性的ＭＲＩ，旨在评价其诊断价值。１资料与方法本文２５例病人中，男１６例，女９例，年龄８～４１岁（平均年龄３３．５岁）；病程２月～１０年。全部病例经Ｘ线确诊颅底凹陷，其中１３例行...     

MRI在小儿先天性肛门直肠畸形诊断中的应用

目的：探讨MRI在小儿先天性肛门直肠畸形中的诊断价值。材料与方法：经手术证实的先天性肛门直肠畸形患儿50例,术前均行MRI检查。由两位有经验的影像诊断医师阅读MRI资料。结果：50例患儿中包括高位型闭锁34例、中间位型闭锁7例、低位型闭锁9例。结论：MRI可以准确、全面地显示肛门直肠畸形的类型、瘘管存在与否、肛周肌肉发育状态以及伴发的其他畸形情况,为手术方式的选择、预后的评估提供可靠依据。     

经腹三维超声诊断先天性子宫畸形的临床价值

随着三维超声成像技术不断的发展和完善,其对先天性子宫畸形的诊断价值已获肯定。与二维超声比较,三维超声在子宫腔的形态观察及了解宫腔与宫颈管的连续关系方面有着独特的优势。目前,三维超声检查多采用经阴道法,本研究采用经腹三维容积探头,对47例先天性畸形的子宫进行三维成像,探讨其应用价值和成像技巧。资料与方法一、研究对象选取2009年10月至2012年2月因习惯性流产、月经紊乱     

探讨子宫输卵管造影和MRI在先天性子宫畸形诊断中的价值

目的：探讨子宫输卵管造影与MRI在先天性子宫畸形中的诊断价值。方法：回顾性分析2016年1月—2021年9月南通市妇幼保健院临床、宫腔镜确诊,具有完整子宫输卵管造影（hysterosalpingography,HSG）和MRI检查资料的47例拟诊为先天性子宫畸形病例。结果：MRI共存在3例误诊,3例不全纵隔子宫误诊为双角子宫,准确率为93.62%;HSG共存在17例误诊,4例单角子宫合并对侧残角子宫均未能对残角作出判断,4例正常子宫及1例双子宫误诊为单角子宫,2例完全纵隔子宫、6例不全纵隔子宫误诊为双角子宫,准确率为63.83%。结论：HSG对先天性子宫畸形的诊断准确率明显低于MRI,但其在显示输卵管形态及评估输卵管通畅程度中具有优势;MRI具有较高的软组织分辨率,可多方位、多参数成像,诊断先天性子宫畸形的准确率高,在临床中具有较高的应用价值。     

三维超声诊断先天性子宫畸形的价值

目的 探讨三维超声诊断先天性子宫畸形的临床价值.方法 对二维超声检查提示或临床疑有先天性子宫畸形的19例患者,进行三维超声检查.以宫腔镜或腹腔镜检查结果为金标准,评价二维超声和三维超声的敏感性和准确性. 结果二维超声和三维超声诊断先天性子宫畸形的敏感性、准确性分别为78.9%、57.9%和100%、100%,三维超声明显优于二维超声.结论 三维超声简便、有效、无创,对先天性子宫畸形的诊断具有较高的敏感性和准确性.     

三维经阴道超声在先天性子宫畸形中的诊断价值

先天性子宫畸形为形成子宫段副中肾管发育及融合异常所致,是造成临床妇女不孕、不良妊娠及产科并发症的主要因素之一[1-2]。常见的子宫畸形有双子宫、双角子宫、单角子宫、纵隔子宫、残角子宫、弓形子宫,常规二维超声因不能显示子宫及宫腔的冠状切面,易漏诊或误诊。近年来,随着经阴道超声在临床的应用和发展[3],尤其是经阴道三维超声子宫冠状面成像可提供     

经阴道三维超声在先天性子宫畸形诊断中的应用

先天性子宫畸形是因胚胎时期双侧副中肾管发育融合障碍所致,常见有双子宫、双角子宫、纵隔子宫、弓形子宫、单角子宫、残角子宫等.经阴道二维超声无法显示子宫冠状面的轮廓,对子宫畸形的评估上存在一定的局限性[1-2];三维超声弥补了二维超声的不足,成为诊断子宫畸形的重要手段.     

子宫输卵管造影在诊断先天性子宫畸形中的应用

先天性子宫畸形是女性不孕不育、流产和胎儿发育异常的重要原因之一,不同类型的子宫畸形处理方法不同,因此正确诊断和分型十分重要。     

三维超声冠状面对先天性子宫畸形的诊断价值

目的探讨三维超声冠状面在先天性子宫畸形诊断中的临床应用价值.方法应用Voluson 730及Voluson530D三维超声成像仪对33例先天性子宫畸形进行三维超声多平面成像,与传统二维超声检查做比较,并与子宫输卵管造影,宫腔镜检查的最终结果做对照.结果三维超声冠状面可以显示不同子宫畸形的宫腔结构及宫底外观形态.结论三维超声冠状面图像直观清晰,立体感强,能够描述宫腔特征,尤其是显示宫腔内部结构及宫底外观形态,在对先天性子宫畸形的诊断中明显优于二维超声诊断.     

经阴道三维超声诊断子宫发育异常的准确性及可重复性

目的 评价经阴道三维超声(TV3DUS)诊断子宫发育异常的价值及测量宫腔的可重复性。方法 随机选择接受TV3DUS检查的30例子宫正常及49例子宫发育异常的患者进行分析,测量其中39例发育异常子宫的宫腔底部宽度、宫底内膜面向宫腔凸起高度或纵隔长度、宫腔长度。由2名医师在双盲情况下分别独立完成图像的分析、测量和诊断,对诊断结果和测量数据进行一致性检验。结果 2名医师诊断子宫发育异常具有高度一致性(Kappa=0.932,P<0.01)。对39例发育异常子宫宫腔径线的测量结果显示,观察者内及观察者间均有高度一致性,组内相关系数均高于0.8。结论 TV3DUS可准确诊断子宫发育异常,其测量宫腔径线的可重复性良好。     

子宫发育异常的MRI诊断

目的探讨磁共振成像对子宫发育异常的诊断价值.方法 18例子宫发育异常患者行常规磁共振检查.子宫发育异常分型参照美国生育协会的标准.结果幼稚子宫1例,残角子宫1例,双子宫4例,双角子宫7例,纵隔子宫5例.MRI检查结果与临床诊断符合率为100%.结论磁共振可以为子宫发育异常提供明确的诊断和分型依据,是一项简单可行而且准确无损伤的检查方法.     

Drug safety in pregnancy--monitoring congenital anomalies

morgan m., de jong -van den berg l.t.w. & jordan s. (2011) Journal of Nursing Management  19 , 305–310
Drug safety in pregnancy – monitoring congenital anomalies Aim This paper outlines research into the causes of congenital anomalies, and introduces a pan-European study. The potential roles of nurses and midwives in this area are illustrated by a case report. Background Since the thalidomide disaster, use of drugs in pregnancy has been carefully monitored to prevent anything similar happening again. However, monitoring is incomplete and questions remain unanswered. Key issues Many medicines are essential for the health of pregnant women. However, drug use in pregnancy requires surveillance. Methods include spontaneous reporting of adverse events, cohort studies and case control studies. It is hoped that a Europe-wide study, combining data from several congenital anomaly registers, will provide a sufficiently large population to assess the impact of selected drugs on congenital anomalies. However, this work depends on the consistency of reporting by nurses and midwives. Conclusion Drug safety in pregnancy remains undetermined. Collaboration across Europe has the potential to provide a framework for safety evaluation. Implications for nursing management Prescribers should consider the possibility of pregnancy in women of child-bearing age. Careful review of maternal drug use in early pregnancy is essential. Midwives and nurses should be aware of adverse event drug reporting systems, including congenital anomaly registers.     

子宫对称性在超声诊断子宫肌瘤中的价值

目的 探讨子宫对称性在超声诊断子宫肌瘤中的价值。方法 常规探测子宫的形态、大小、内部结构,根据宫腔线、节育环或探针的位置,测量子宫体前、后、左右侧壁的厚度,并进行患侧与健侧的对比。结果 63例病人中,前壁肌瘤15例,后壁肌瘤14例,左侧壁肌瘤14例,右侧壁肌瘤18例,有47例经手术证实,准确率达100%。结论 在超声探测子宫时,测量子宫体四壁的厚度,并观察其对称性,能够对不典型性子宫肌瘤及早诊断,并为随访观察提供具体的依据。     

First trimester screening aids in the diagnosis and management of an ectopic pregnancy in a noncommunicating uterine horn

Pregnancy within a noncommunicating rudimentary horn has a 70% chance of rupturing, with a maternal mortality of 0.5%. It is most commonly managed with operative removal of the horn. We report a pregnancy within a noncommunicating horn and highlight the advantage of early diagnosis via sonography. First trimester prenatal screening via sonographic examination allows early diagnosis of müllerian duct abnormalities and ectopic pregnancy. This information expedites management of such pregnancies, thus decreasing maternal morbidity and increasing the chance of future fertility.     

Chromosomal microarray in postnatal diagnosis of congenital anomalies and neurodevelopmental disorders in Serbian patients

BackgroundArray‐based genomic analysis is a gold standard for the detection of copy number variations (CNVs) as an important source of benign as well as pathogenic variations in humans. The introduction of chromosomal microarray (CMA) has led to a significant leap in diagnostics of genetically caused congenital malformations and neurodevelopmental disorders, with an average diagnostic yield of 15%. Here, we present our experience from a single laboratory perspective in four years’ postnatal clinical CMA application.MethodsDNA samples of 430 patients with congenital anomalies and/or neurodevelopmental disorders were analyzed by comparative genome hybridization using oligonucleotide‐based microarray platforms. Interpretation of detected CNVs was performed according to current guidelines. The detection rate (DR) of clinically significant findings (pathogenic/likely pathogenic CNVs) was calculated for the whole cohort and isolated or combined phenotypic categories.ResultsA total of 140 non‐benign CNVs were detected in 113/430 patients (26.5%). In 70 patients at least one CNV was considered clinically significant thus reaching a diagnostic yield of 16.3%. The more complex the phenotype, including developmental delay/intellectual disability (DD/ID) as a prevailing feature, the higher the DR of clinically significant CNVs is obtained. Isolated congenital anomalies had the lowest, while the “dysmorphism plus” category had the highest diagnostic yield.ConclusionIn our study, CMA proved to be a very useful method in the diagnosis of genetically caused congenital anomalies and neurodevelopmental disorders. DD/ID and dysmorphism stand out as important phenotypic features that significantly increase the diagnostic yield of the analysis.     

Neonatal outcomes and congenital anomalies in pregnancies affected by hypothyroidism

BackgroundMaternal hypothyroidism has been reported to have concerns over neonatal outcomes, not only in the context of neurocognitive development but also in the short term as birth weight and neonatal jaundice.Patients and methodsWe conducted a cross-sectional retrospective study on 638 cases who delivered live births in the Aga Khan University Hospital after ethical approval. Data were collected on hypothyroid pregnant females who were diagnosed before conception or during their antenatal visits during the year 2008–2016. Neonatal outcomes were noted for birth weight, maturity, and neonatal jaundice, neonatal hypothyroidism, neonatal respiratory distress syndrome, sepsis, hypocalcaemia, congenital anomalies, need for intensive care admission, and neonatal death. Subgroup analysis was performed on the timing of diagnosis of maternal hypothyroidism. Data analysis was performed on Statistical Package for the Social Sciences version 20.0.ResultsNeonatal jaundice was the most common neonatal outcome (37.6%) in our cohort of 662 live births. Nearly 15% required intensive care unit admission, however, neonatal death was very rare. The most common clinically significant congenital anomalies were cardiovascular defects, whereas Mongolian spots were the commonest congenital condition to report. There is a statistically significant association between low birth weight (OR 1.86, 95% CI 1.0–3.2, p ≤ 0.05) and congenital anomalies (OR 2.39, 95% CI 1.4–4.0, p ≤ 0.05) with women diagnosed with hypothyroidism before pregnancy.ConclusionWe report the neonatal outcomes and spectrum of congenital anomalies of hypothyroid pregnancies diagnosed before and during conception for the first time from the region of Pakistan.

KEY MESSAGE

• Overall, none of the neonates of hypothyroid pregnancies developed congenital hypothyroidism.
• Cardiovascular defects in these neonates imply extensive screening and monitoring during pregnancy.
• Low birth weight and congenital anomalies are associated with the timings of diagnosis of hypothyroidism in pregnancy.

     

MRI在小儿先天性肛门直肠畸形诊断中的应用及准确性分析

目的探讨小儿先天性肛门直肠畸形(ARM)诊断中磁共振(MRI)的应用及其准确性。方法选取2017年1月至2018年12月该院收治的60例ARM患儿为研究对象,所有患儿均进行倒立位X线片检查与MRI检查。将手术病理检查结果作为金标准。比较两种诊断方法最终的诊断结果、诊断准确率。结果 MRI诊断的高位肛门闭锁型ARM 24例、中位肛门闭锁型ARM 33例,直肠盲端均位于PC线以上,其距肛门窝的距离均≥2.1cm。倒立位X线片诊断的高位肛门闭锁型ARM 20例、中位肛门闭锁型ARM 30例,直肠盲端均于PC线基本水平,其距肛门窝的距离约为1.8cm。MRI诊断的高位肛门闭锁型ARM、中位肛门闭锁型ARM例数多于倒立位X线片检查例数,差异有统计学意义(P<0.05)。结论 ARM诊断中,MRI的诊断结果准确、可靠,适宜在临床上多加推广。