早中孕超声检查联合无创产前基因检测在染色体异常胎儿中的价值

目的探讨早中孕期胎儿超声检查联合无创产前基因检测(NIPT)筛查胎儿染色体异常的临床应用价值。方法选取2016年6月～2017年12月于我院进行早中孕期胎儿超声检查的孕妇共14 601例,其中2 575例超声检查异常作为研究对象,根据孕妇是否选择无创产前基因检测(NIPT)分为超声组及联合组。仅超声异常为超声组,超声异常联合NIPT筛查为联合组。对超声组与联合组的染色体异常检出率进行统计分析对比。结果联合组共318例,其中进行侵入性产前诊断共67例,证实染色体异常23例,染色体异常检出率34.3%(23/67);超声组共2257例,其中进行侵入性产前诊断检查443例,证实染色体异常75例,染色体异常检出率16.9%(75/443)。联合组染色体异常检出率高于超声组,差异具有统计学意义(χ~2=11.349,P0.01)。结论早中孕期胎儿超声检查联合无创产前基因检测能提高胎儿染色体异常检出率,二者互为补充,能减少染色体异常漏诊率,有很好的临床应用价值。     

胎儿超声软指标及结构异常在胎儿染色体异常产前诊断中临床价值

目的 探讨胎儿超声软指标及结构异常在胎儿染色体异常产前诊断中的临床价值。方法 选取百色市妇幼保健院产前诊断中心自2020年2月至2022年11月收治的孕育具有超声软指标或结构异常胎儿的283例孕妇为研究对象。所有胎儿均接受介入性染色体筛查,分析不同超声软指标和结构异常胎儿的染色体异常情况,采用多因素Logistic回归分析影响胎儿染色体异常的相关因素。结果 283例孕妇中：单项超声软指标异常249例(87.98%),2项软指标异常29例(10.25%),3项及以上软指标异常5例(1.77%);单项结构异常96例(33.92%),2项结构异常19例(6.71%),3项及以上结构异常2例(0.71%)。超声软指标异常胎儿的染色体异常检出率依次为鼻骨发育异常(16.39%)、侧脑室增宽(13.43%)、NT增厚(12.36%)、脉络丛囊肿(11.76%)、单脐动脉(11.53%)、长骨短小(10.00%)、心室强光点(8.70%)、肾盂分离(4.17%),肠管强回声胎儿未检出染色体异常。超声单项结构异常胎儿的染色体异常检出率依次为颈部水囊瘤(25.00%)、心脏系统(19.23%)、神经系统...     

早孕期胎儿颈项透明层厚度与结构异常相关性研究

目的研究胎儿颈项透明层(NT)厚度与胎儿结构异常的关系,了解其在评估胎儿预后中的价值。方法对2013年7月~2014年7月期间孕期在我院行早孕期(11~13+6周)超声筛查的9537例单胎病例进行回顾性分析,存在颈项透明层增厚、结构异常的病例进行密切追踪随访。结果早孕期超声筛查发现结构异常及早孕期超声筛查阴性而中、晚孕超声筛查发现结构异常的56例,占0.58%(56/9537),按NT厚度将其依次分为4组,3.0mm、3.0~3.49mm、≥3.5mm、颈部水囊瘤。NT厚度分组中结构异常发生率分别为0.35%(33/9452),11.5%(3/26),23.5%(8/34),48%(12/25),组间差异具有统计学意义(Fisher确切概率法:χ~2=167.116,P0.001),胎儿结构异常发生率随NT增厚而升高(趋势χ~2检验:χ~2=130.096,P0.001)。研究检测的结构异常主要包括心脏、胎儿水肿、中枢神经系统、骨骼肌肉系统,而NT增厚部分占41.07%(23/56),NT增厚与结构异常有关(四格表的关联分析:Phi系数φ=0.329,P0.001)。结论 NT是早孕期超声筛查中的重要指标,有助于胎儿结构异常的高危筛查。早孕期进行规范化胎儿结构超声筛查对于早期诊断胎儿结构异常发挥重要作用。     

NT超声早孕期筛查对胎儿结构异常的诊断价值

目的 探讨早孕期胎儿颈项透明层厚度(nuchal translucency, NT)超声对胎儿结构异常筛查的诊断价值。方法 选取本院进行产检的500例孕妇的资料，孕妇均于11～13⁺⁶周行NT超声检查，分析500例孕妇NT值异常情况，对比不同孕周及年龄NT值区别。结果 500例孕妇中，正常NT值孕妇489例，NT平均值(1.67±0.36) mm,异常NT值孕妇11例，NT平均值(3.22±0.41) mm,差异具有统计学意义(P<0.05)。500例孕妇经NT筛查一共11例异常，异常占比2.2%。其中单纯NT增宽4例，单脐动脉2例，脐膨出1例，神经系统畸形1例，颈部水囊瘤2例，心血管系统单心房1例。本文489例正常NT值孕妇中11～11⁺⁶周83例，12～12⁺⁶周孕妇309例，13～13⁺⁶周97例，其NT值差异有统计学意义(P<0.05)。489例正常NT值孕妇中≤24岁孕妇102例，25～29岁249例，30～35岁96例，35～38岁42例，其NT值差异无统计学意义(P>...     

习惯性流产夫妇的染色体异常分析

目的 探讨习惯性流产与染色体异常的关系。方法 对早期有习惯性自然流产史的154对夫妇进行外周血染色体核型分析。结果 154对夫妇中有24例染色体核型异常，异常检出率为15．58％。其中平衡易位15例，臂间倒位3例，Y染色体变异5例，常染色体变异1例，均出现2次以上早期自然流产。结论 习惯性流产夫妇任何一方的染色体异常均可引起流产等不良妊娠，9号染色体倒位和染色体变异与早期自然流产关系密切。     

早中孕产前超声检查在染色体非整倍体异常胎儿中的诊断价值

目的：探讨早中孕期产前超声检查在染色体非整倍体异常胎儿中的诊断价值。方法对2014年3月～2015年10月在我院经羊水细胞、脐血细胞及绒毛细胞染色体核型分析诊断为非整倍体异常的38例胎儿早中孕期（11～28周）产前超声异常声像图进行总结分析。结果38例羊水细胞染色体核型分析确诊为非整倍体异常的胎儿中超声显示异常32例（84．2％,32／38）,包括21-三体17例（17／23）、18-三体11例（11／11）、13-三体2例（2／2）,45,X 2例（2／2）。其中单发畸形10例（31．2％,10／32）,多发畸形12例（37．6％,12／32）,仅表现为超声软指标10例（31．2％,10／32）。18-三体、13-三体、45,X胎儿均有超声结构异常,18-三体胎儿中8例表现为超声结构异常合并软指标异常。21-三体胎儿中10例,仅表现为超声软指标异常,7例表现为超声结构异常合并软指标异常。38例非整倍体异常胎儿中以心脏畸形检出例数居多（31．5％,12／38）,而颈部淋巴水囊瘤是45,X胎儿的典型超声表现。结论非整倍体异常胎儿常伴有异常的超声声像图表现,部分还有相应的典型超声畸形谱和超声软指标,早中孕期产前超声检查作为非侵入性检查技术对于非整倍体异常胎儿的诊断有重要价值。     

孕早期超声测量胎儿颈项透明层在筛查胎儿异常中的作用

目的分析孕早期超声测量胎儿颈项透明层在筛查胎儿异常中的作用。方法收取我院12 000例孕妇采用超声测量胎儿颈项透明层,分析妊娠结局。结果 12 000例孕妇实施超声测量后,胎儿异常孕妇有80例、异常率为0.67%。在80例胎儿异常孕妇中,预后不良有13例,5例孕妇接受染色体检查、4例为染色体核型异常、1例染色体核型正常孕妇在孕中期发现伴有先天性心脏病,8例未实施染色体检查孕妇中,先天性心脏病有2例、系统畸形有3例、死胎有3例。结论胎儿颈项透明层增厚越明显,胎儿异常(染色体异常、结构异常)几率就越高。     

高海拔地区孕产妇羊水穿刺检测胎儿染色体异常核型结果分析

目的：探讨高海拔地区孕妇羊水穿刺检测胎儿染色体异常核型结果分析。方法：将自愿选择120例世居高原孕妇在妊娠中期行羊膜腔穿刺,通过羊水检测获取胎儿细胞染色体核型分析,检测胎儿染色体异常,防治和降低先天性缺陷儿的出生。结果：120例孕妇羊水标本中,细胞培养成功118份,培养失败2份（细胞生长不良1份,母血混杂1份）,细胞培养成功率98.33%,检出染色体异常核型5例,异常核型检出率4.16%,其中21-三体综合征3例,18-三体综合征2例。结论：高海拔地区染色体核异常比例高;羊水穿刺检测是安全、有效的产前筛查手段,为孕妇终止妊娠提供可靠依据,及早防治和降低先天性缺陷儿的出生。     

超声检查在胎儿畸形筛查中的应用效果及与染色体异常相关性研究

目的评价超声检查应用于胎儿畸形筛查的效果及胎儿畸形与染色体异常的相关性。方法从2012年1月～2017年10月我院接受产前筛查的孕妇中选取1000例为观察对象,回顾分析孕妇超声检查胎儿畸形筛查结果,并分析胎儿畸形与染色体异常存在的关系。结果产后显示受检者中共有16例畸形胎儿,超声检查共检出15例,准确率为93.75%(15/16),漏诊率为6.25%(1/16);15例畸形胎儿均引产,与大体标本观察结果比较,超声诊断符合率为93.75%;先天性足或手畸形、四肢短小发生率最高,所占比例分别为40.00%、13.33%;10例行胎儿染色体检查,提示染色体正常为7例(70.00%),染色体异常为3例(30.00%)。结论超声检查中,胎儿畸形显示存在典型图像特征,可获得较高检出率,胎儿肢体畸形常与染色体异常存在一定相关性。     

妊娠中、晚期超声筛查胎儿染色体三体的临床价值

目的探讨妊娠中、晚期超声筛查胎儿染色体三体的临床价值。资料与方法在妊娠中期和中晚期对产前诊断染色体有异常指征的3 297例孕妇行羊水或脐血穿刺术检查染色体核型,比较超声异常组、唐氏高危组、高龄孕妇组的染色体三体检出率为7.14%,并分析染色体三体与超声异常的关系。结果接受羊水穿刺并培养成功的3 110例孕妇中,检出染色体三体53例,染色体三体检出率为1.70%;3 110例孕妇中超声异常98例,其中检出染色体三体7例,染色体三体检出率为7.14%。超声异常组染色体三体检出率明显高于唐氏高危组1.15%(14/122 2()χ2=20.842,P<0.001)、高龄孕妇组0.73%(5/688)(χ2=23.489,P<0.001)。187例脐血染色体核型分析,检出染色体三体18例,染色体三体检出率为9.62%;187例孕妇中超声异常128例,检出染色体三体12例,染色体三体检出率为9.38%。结论超声筛查胎儿染色体三体既具有重要价值,又有一定的局限性,运用联合筛查的方法,可取长补短,提高染色体三体胎儿的检出率。     

Selective motor control correlates with gait abnormality in children with cerebral palsy

Children with bilateral cerebral palsy (CP) commonly have limited selective motor control (SMC). This affects their ability to complete functional tasks. The impact of impaired SMC on walking has yet to be fully understood. Measures of SMC have been shown to correlate with specific characteristics of gait, however the impact of SMC on overall gait pattern has not been reported. This study explored SMC data collected as part of routine gait analysis in children with bilateral CP.As part of their clinical assessment, SMC was measured with the Selective Control Assessment of the Lower Extremities (SCALE) in 194 patients with bilateral cerebral palsy attending for clinical gait analysis at a single centre. Their summed SCALE score was compared with overall gait impairment, as measured by Gait Profile Score (GPS).Score on SCALE showed a significant negative correlation with GPS (r_s = −0.603, p < 0.001). Cerebral injuries in CP result in damage to the motor tracts responsible for SMC. Our results indicate that this damage is also associated with changes in the development of walking pattern in children with CP.     

计算机导航下解剖标志异常的膝关节置换术

目的 探讨在计算机导航下骨解剖异常的全膝关节置换术(total knee arthroplasty,TKA)的疗效及其优越性.方法 2007年12月-2008年10月共对5例骨解剖异常的膝关节行TKA(导航组),手术均在计算机导航辅助下进行.随机选取既往未使用计算机导航的5例行TKA患者作为非导航组,均具有正常解剖标志.术后3 d常规摄正、侧位X线片,分别测量α、β、γδ角及关节活动度.结果 术中、术后未发生因导航而出现的并发症.两组α、β、γ及δ角虽然差异无统计学意义,但导航组的极值范围很小,其取得极值的可能性远远小于非导航组.术后导航组膝关节活动范围平均为112.67°,非导航组为106.98°,但两组术前活动范围[导航组(70.87±10.78)°,非导航组(105.08±30.67)°]比较,差异有统计学意义.结论 计算机导航下TRA的近期疗效与机械定位相比无明显优势,但在力线上均明显较机械定位精确.计算机导航下TKA特别对于解剖异常的膝关节,可降低手术难度,提高手术精度.     

计算机导航下解剖标志异常的膝关节置换术

Objective To discuss the effect and advantage of the navigation-assisted system in total knee arthroplasty (TKA) of the knees with anatomical abnormality. Methods The study involved five patients with anatomical abnormality of the knees who were treated with arthroplasty under the navigation-assisted system from December 2007 to October 2008. Meanwhile, five patients with normal anatomy of the knees treated with total knee arthroplasty without using the navigation-assisted system were used as control. The α, β, γand δ angles were measured based on the X-ray images and the active range of the knee joint was determined. Results No complication caused by navigation occurred. There was no significant difference in the α, β, γ and δ angles between the two groups, but the range of extremum in the navigation group was less than that of the control group. The mean postoperative active range of the knee joint in the navigation group ( 112.67°) was higher than that of the control group ( 106.98° ), while the preoperative active range of the knee joint of the navigation group [(70.87 ± 10.87)°] was significantly lower than that of the control group [( 105.08 ± 30.67)°]. Conclusions Compared with conventional methods, navigation-assisted TKA showas no obvious advantage in short-term outcome but has great advantages in improving the accuracy and the joint movement, especially for the knees with anatomical abnormality.     

Syphilitic myelitis with diffuse spinal cord abnormality on MR imaging

Syphilitic myelitis is a very rare manifestation of neurosyphilis. The MRI appearance of syphilitic myelitis is not well documented and only a few cases have been reported. We present a 52-year-old woman with acute onset of paraplegia. Magnetic resonance imaging of the spine showed diffuse high signal intensity in the whole spinal cord on T2-weighted images. Focal enhancement was observed in the dorsal aspect of the thoracic cord on T1-weighted gadolinium-enhanced images. To our knowledge, diffuse spinal cord abnormality in syphilitic myelitis has not been reported in the international literature. Disappearance of the diffuse high-signal lesions with residual focal enhancement was noted after antibiotic therapy. The patient suffered significant neurological deficit despite improvement in the MR images. In this article we present the imaging findings and review the literature of this rare condition. Electronic Publication     

Radionuclide localisation of parathyroid abnormality

There is much discussion about the ideal method for pre-operative localisation of parathyroid abnormality, ie, adenoma or hyperplasia, but as yet there is no simple and/or non-invasive screening method available. Different clinical centres have access to different imaging modalities and therefore use a variety of techniques ranging from ultrasound to direct venous sampling. This paper presents a version of a dual radionuclide computerised subtraction procedure, but the author wishes to point out that this technique is still undergoing research.     

肾上腺性征异常病变的CT和MRI诊断

目的:报告5例肾上腺性征异常病变的CT和/或MRI影像学表现,并结合文献讨论这两种影像检查方法对肾上腺性征异常病变的诊断价值和限度。方法:5例肾上腺性征异常病变中,先天性肾上腺皮质增生1例,皮质腺瘤和皮质癌各2例,除1例先天性肾上腺皮质增生外,余4例均经手术和病理证实。5例均进行了CT检查,其中1例皮质腺瘤还进行了MRI检查。结果:CT检查1例先天性肾上腺皮质增生表现为双侧肾上腺明显增大并边缘多发小结节;2例皮质腺瘤表现为肾上腺卵圆形肿块,密度较均一;2例皮质癌表现为肾上腺较大肿块,密度不均,1例有散在钙化,1例下腔静脉内有瘤栓。MRI检查1例皮质腺瘤,T1WI和T2WI信号强度类似肝实质,且在反相位上信号强度明显下降。结论:CT和/或MRI检查有助于肾上腺性征异常的诊断和鉴别诊断,对评估病人的预后和采取合理的治疗方案具有重要意义。