超声检测孕11～13～(+6)周胎儿颅内透明层的临床研究

目的探讨超声检测孕11～13～(+6)周胎儿颅内透明层的临床诊断价值。方法选择2017年1月—2018年12月期间在本院进行产前超声——胎儿颈项透明层(NT)检查的100例产妇。常规测量NT标准切面后,同时测量颅内透明层厚度(IT),统计胎儿颅内透明层显示情况,计算IT平均值和头臀径胎儿平均值。同时,对比不同头臀径胎儿的IT值水平。结果 100例产妇胎儿中,99例(99. 00%)均可清晰显示颅内透明层,另外1例(1. 00%)不能显示其颅内透明层,终止妊娠后确诊开放性脊柱裂。随访显示,99例显示颅内透明层胎儿均未出现脊柱裂。本组产妇胎儿头臀径63. 94±18. 96 mm和IT值1. 48±0. 49 mm。头臀径45～55 mm范围内胎儿IT值(1. 38±0. 04 mm)最低,显著低于头臀径56～65 mm(1. 48±0. 13 mm)、65～75 mm(1. 65±0. 22 mm)、75～83 mm(1. 83±0. 14 mm)范围者,差异均具有统计学意义(P <0. 05)。头臀径75～83 mm范围内胎儿IT值(mm)最高,显著高于头臀径56～65 mm、65～75 mm者,差异均具有统计学意义(P <0. 05)。结论超声检测孕11～13～(+6)周胎儿颅内透明层,对于脊柱裂诊断价值较高,值得推广借鉴。     

颅内原发性淋巴瘤的MRI诊断与分析

目的 分析颅内原发性淋巴瘤的MRI特征,以提高其诊断水平,为临床选择合理的治疗方案提供更有利的依据.方法 回顾性分析经病理证实的15例颅内原发性淋巴瘤的MRI资料,所有病例均行平扫及增强扫描.结果 15例患者中发现19个病灶,病灶单发12例,多发3例.幕上13例,幕下2例.MRI表现：平扫T1WI呈等或稍低信号,T2WI呈稍高或高信号;增强扫描病灶多呈团块状或结节样均匀或不均匀性强化;瘤周水肿及占位效应属轻、中度;DWI多呈高信号,ADC值多低于或接近于正常脑白质.结论 颅内原发性淋巴瘤结合其MRI特点、部位及年龄有助于对本病作出正确的诊断.     

颅内原发性淋巴瘤的MRI诊断与分析

目的 分析颅内原发性淋巴瘤的MRI特征,以提高其诊断水平,为临床选择合理的治疗方案提供更有利的依据.方法 回顾性分析经病理证实的15例颅内原发性淋巴瘤的MRI资料,所有病例均行平扫及增强扫描.结果 15例患者中发现19个病灶,病灶单发12例,多发3例.幕上13例,幕下2例.MRI表现:平扫T1WI呈等或稍低信号,T2WI呈稍高或高信号;增强扫描病灶多呈团块状或结节样均匀或不均匀性强化;瘤周水肿及占位效应属轻、中度;DWI多呈高信号,ADC值多低于或接近于正常脑白质.结论 颅内原发性淋巴瘤结合其MRI特点、部位及年龄有助于对本病作出正确的诊断.     

产前超声在孕中期胎儿畸形筛查中的临床价值

目的探讨产前超声检查在孕中期胎儿畸形筛查中的应用价值。方法回顾性分析2009年1月～2012年9月孕20～24周于我院行超声筛查被诊断为胎儿畸形并经引产或产后证实的145例孕妇的临床资料,对胎儿畸形进行分类,分析胎儿畸形的影响因素。结果胎儿畸形与孕妇所在地区没有关系,但〉35岁的孕妇更易发生胎儿畸形。结论产前超声在孕中期胎儿畸形筛查中具有重要作用。     

Sturge-Weber综合征的影像学诊断(附7例报告及文献复习)

目的 探讨CT和MRI在Sturge-Weber综合征诊断中的价值.方法 回顾性分析7例Sturge-Weber综合征患者CT及MRI表现.4例行CT平扫,7例均行MRI检查,其中2例行MRI平扫,5例行MRI平扫和增强扫描.结果 4例行CT平扫患者均显示有皮层区脑回状钙化及颅板增厚;行MRI平扫者显示7例均有不同程度的脑萎缩,3例深静脉迂曲扩张,1例颜面部及眼睑软组织增厚.5例行MRI增强扫描者显示4例软脑膜脑回样强化,2例脉络丛结节状强化,1例顶骨板障强化.结论 CT和MRI对诊断Sturge-Weber综合征均具有重要价值;增强MRI能更准确地显示颅内外病变的范围,可将其作为Sturge-Weber综合征的常规检查.     

颅内原发恶性淋巴瘤的MRI表现

目的:总结颅内原发恶性淋巴瘤的MRI表现,分析术前误诊的原因,以提高诊断的准确度。方法:回顾性分析18例经手术病理证实的原发性颅内淋巴瘤(弥漫大B细胞型)的MRI平扫、增强及弥散加权成像(DWI)的特征性表现。结果:单发病灶15例,多发病灶3例。其中脑干1例,小颅蚓部1例,大颅半球14例,基底节区1例,右侧丘颅1例。术前误诊4例(均诊断为颅内胶质瘤)。18例均为弥漫大B细胞型非霍奇金淋巴瘤。18例病变均表现为占位性肿块,T1WI呈低、等信号;T2WI呈等、稍高信号;行马根维显增强扫描,无坏死病灶均呈较均匀显著强化,伴有坏死时,坏死区无强化。16例瘤周中度水肿,2例瘤周重度水肿。10例行DWI序列扫描病变呈均匀高信号表现。结论:原发性颅内淋巴瘤的MRI表现有一定的特征性。MRI平扫、增强扫描及弥散加权成像(DWI)特点综合分析可提高对本病诊断率。弥散加权成像(DWI)的特点对诊断与鉴别诊断具有一定的参考价值。     

磁共振胎儿中枢神经系统成像的应用

目的 探讨磁共振丞相在胎儿中枢神经系统检查中的应用价值.方法 选择我院的中晚孕妊娠孕妇36例,临床或超声检查怀疑胎儿中枢神经系统疾病.行MRI 检查,T2WI 采用半傅里叶单激发快速自旋回波序列(HASTE) 、真稳态进动快速成像序列(True FISP),T1WI 采用超快速小角度激发序列(FLASH)(Turbo FLASH) 扫描,将产前 MRI、US 表现与产后诊断或尸检结果对照.结果 MRI 的诊断正确率较 US 提高 22.22%.结论 磁共振胎儿中枢神经系统成像的临床应用,可以获得理想的临床结果,较超声明显提高了诊断的正确率,值得临床应用.     

孕早期标准化超声切面筛查胎儿结构畸形的临床分析

目的探讨在孕早期行标准化超声切面筛查胎儿结构畸形的临床意义。方法选取2013年3月-2015年7月在该院行产前超声检查且在该院分娩的孕妇1 129例,所有孕妇均行孕早期标准化超声切面筛查并追踪妊娠结局。结果孕早期(孕11~13+6周)标准化超声切面筛查孕妇1 129例共1 206胎;对所有孕妇妊娠结局进行追踪随访,其中正常单胎1 013例,单胎异常39例,双胎正常72例,双胎异常5例,共发现胎儿畸形44例,发生率为3.65%(44/1 206)。孕早期超声筛查诊断16例,胎儿结构畸形占36.36%,骨骼四肢和神经系统畸形检出率较高,分别占64.28%和60.00%,呼吸和消化系统畸形均占0.00%;孕早期超声筛查胎儿结构畸形具有较好的诊断价值,其灵敏度、特异度、阳性预测值和阴性预测值分别为36.36%、100.00%、100.00%和97.65%;孕中期超声筛查诊断胎儿结构畸形28例,超声诊断结果与引产后诊断相符合。结论孕早期标准化超声切面筛查可检出部分严重胎儿畸形,但不能替代孕中期超声筛查。     

胎儿脉络丛囊肿36例临床分析

目的：探讨胎儿脉络丛囊肿产前诊断的临床意义及处理方法。方法：对笔者所在医院2008年9月-2011年9月孕中期经超声诊断的36例胎儿脉络丛囊肿孕妇,进行胎儿染色体核型检查,超声观察囊肿变化及消失时间,随访母儿结局。结果：36例胎儿脉络丛囊肿均在孕16～25周经超声诊断,囊肿直径0.2～1.6cm,双侧8例,单侧28例;孤立性脉络丛囊肿31例,复杂性脉络丛囊肿5例。除6例引产外,其余30例在孕28周前全部消失。在26例胎儿染色体核型检查中,诊断18-三体3例,21-三体1例,染色体平衡异位1例,10例未查染色体核型的胎儿出生后身体检查及随访1年未见异常。36例中,6例于妊娠中期引产（其中3例18-三体,1例21-三体,2例伴多发结构异常）,余30例继续妊娠至分娩,产后6～12个月随访,婴儿随访发育及智力未见异常。结论：胎儿脉络丛囊肿可在孕中期经超声诊断,多在孕28周前自行消失。孕妇高龄、唐氏筛查高风险,合并胎儿其他超声软指标异常,囊肿直径〉1.0cm,为染色体异常的高危因素,建议行胎儿染色体核型检查。     

彩色多普勒超声对产前胎儿肢体畸形最佳检查孕周及诊断效果分析

目的探讨彩色多普勒超声对产前胎儿肢体畸形最佳检查孕周及诊断效果分析。方法择取佛山市第六人民医院2017年1月-2020年12月所接收的产前疑似肢体畸形胎儿40例为研究对象,根据孕产妇孕周进行分组,13~18孕周10例,19~24孕周10例,25~32孕周10例,32孕周以上10例,均接受彩色多普勒超声检查,评估胎儿四肢健康状况,并以引产后放射性诊断或产后结果为金标准,分析诊断效果及胎儿肢体畸形检查最佳诊断孕周。结果40例疑似肢体畸形胎儿引产后放射性诊断或产后结果证实阳性38例,阴性2例,经彩色多普勒超声诊断阳性38例,确诊37例,阴性2例,确诊1例,准确率为95.00%(38/40),敏感度为97.37%(37/18),特异度为50.00%(1/2);在13~18孕周检查胎儿手部诊断率可达90.00%,在19~24孕周检查胎儿脚部诊断率可达90.00%;畸形胎儿共计40例,产前超声诊断为38例,存在2例误差,诊断结果符合率为95.00%。结论产前以彩色多普勒超声用于产前肢体畸形胎儿检查中,不仅诊断准确率、诊断结果符合率较高,还能分别显示四肢最佳检查孕周,可有效减少肢体畸形胎儿出生率,值得推广。     

利用孕早期宫颈脱落滋养层细胞检测胎儿TSPY基因

为了解利用孕早期宫颈脱落滋养层细胞进行产前诊断的可能性,本研究针对55例孕早期5～8周将行接受人工流产的妇女,对经子宫颈收集到的脱落细胞进行了睾丸特异件蛋白基因(TSPY)的检测。结果取材成功率为52.7％(29/55);而在29例样品中,11例经绒毛DNA证实为男胎的孕妇宫颈脱落细胞有8例检出TSPY基因,而其余3例未检出TSPY基因;18例怀女胎的孕妇宫颈脱落细胞中均未检出TSPY基因。本研究结果表明孕早期从宫颈脱落细胞中可检出胎儿单拷贝TSPY基因,提示了利用这些细胞进行产前分子诊断的可能性。     

应用逆转录-聚合酶链反应方法检测孕妇外周血中胎儿ε/γ血红蛋白基因

目的：探索检测孕妇外周血中胎儿特异血红蛋白基因表达的方法。方法：提取孕妇全血mRNA,经体外逆转录后,用逆转录-聚合酶链反应（RT-PCR）方法,应用ε/γ特异引物引导扩增胎儿特异血红蛋白基因片段,经琼脂糖凝胶电泳后,在凝胶成像系统下观察。结果：在7名妊娠妇女中,6名扩增出ε/γ基因片段,1名为阴性。结论：应用RT-PCR方法可直接从孕妇全血中扩增出胎儿特异血红蛋白基因片段,孕妇全血中微量的胎儿mRNA已基本满足体外逆转录及扩增的要求。利用孕妇外周血进行的无创性产前诊断具有可行性。     

Congenitally absent pulmonary valve--analysis of ten prenatally diagnosed cases and review of the literature

OBJECTIVES: To assess in a population of 10 fetuses diagnosed with absent pulmonary valve the incidence of associated cardiac extracardiac and chromosomal anomalies and the outcome of pregnancies. METHOD: Retrospective analysis of data of prenatally diagnosed absent pulmonary valve cases between 1 January 1993 and 31 December 2005 in Fetal Echocardiography Laboratory of Ist Department of Obstetrics and Gynecology, Semmelweis University, Budapest, Hungary. The diagnosis was controlled with autopsy or postnatal examinations. The time of the prenatal diagnosis, indications, connected cardiac, extracardiac and chromosomal anomalies were studied. RESULTS: Absent pulmonary valve was diagnosed prenatally in 10 pregnancies. The mean gestational age at the time of the diagnosis was 23.1 weeks (18-33 weeks). In 6 cases the malformation was diagnosed before the 24th gestational week, in 4 cases after the 24th gestational week. In 6 cases pregnancies were terminated. Fetal hydrops were found in 2 cases. Among 4 continued pregnancies one intrauterine fetal demise and two neonatal death occurred, one baby was successfully operated and survived. The Botallo duct was normally developed in five cases, in this group the absent pulmonary valve was isolated at 3 fetuses, at 1 fetus absent aortic valve and at 1 fetus tricuspid valve dysplasia were diagnosed. The Botallo duct was absent in five cases, in this group at 3 fetuses tetralogy of Fallot, at 1 fetus atrioventricular septal defect and at 1 fetus subaortic ventricular septal defect were diagnosed. Extracardiac malformations associated with cardiac abnormality at 3 fetuses. The indication for fetal echocardiography was positive family history in 3 cases, abnormal four chamber view in 2 cases, suspicion of thoracal cyst in 3 cases, fetal hydrops in 1 case, extracardiac malformation in 1 case. CONCLUSION: The absent pulmonary valve is a severe malformation, the prognosis is poor and highly dependent on associated malformations. The correct early prenatal diagnosis is possible. The recurrence risk is higher than in multifactorial inheritance.     

胚外体腔穿刺术用于产前诊断的可行性研究

目的 探讨胚外体腔穿刺术的实施方法 及进行产前诊断的可行性研究.方法 孕6～12周要求人工流产的孕妇58例,在人工流产前行胚外体腔穿刺术抽取胚外体腔液,采用聚合酶链反应(PCR)技术检测Y染色体上SRY(sex-determining resion Y)基因,并以绒毛检测结果 作为对照标准.观察穿刺前后胎心率、囊内出血及血肿情况.结果 胚外体腔穿刺总成功率96.6%.穿刺均在5 min内完成,一次穿刺成功率孕6周～者为25.0%,孕7～10周者为93.2%,孕～12周者为50.0%.穿刺前后胎心率无明显变化(P＞0.05).胚外体腔细胞SRY基因检测的准确率为91.1%(51/56).其中30例女胎胚外体腔细胞检测结果 全部与绒毛相符;21例绒毛检测为男胎者,有5例胚外体腔细胞结果 不相符,男胎的准确率为80.8%(21/26).结论 胚外体腔穿刺术的最佳时间为孕7～10周,其操作简单易行,成功率高,安全可靠.     

脑内血管瘤型脑膜瘤的影像诊断

目的:探讨脑内血管瘤型脑膜瘤的影像特点,以提高对该病的认识和诊断.方法:回顾性分析经手术病理证实的脑实质内血管瘤型脑膜瘤3例,男2例,女1例,年龄55～62岁(平均58岁),均行CT平扫及MRI平扫加增强扫描.结果:2例脑实质内血管瘤型脑膜瘤均位于额叶,1例位于颞叶.肿瘤为实性,边缘尚清晰.CT平扫示斑点状钙化,周围未见明显水肿及占位效应.MRI平扫示T1WI及T2WI肿瘤均呈混杂信号,增强扫描病变轻度强化,并可见“脑膜尾征”.结论:脑实质内血管瘤型脑膜瘤有较典型的影像学表现,结合病史、发病部位可提高其诊断准确率.     

胎盘嵌合型16三体合并胎儿生长受限一例

报告1例胎儿生长受限（fetal growth restriction,FGR）孕妇,该孕妇因无创产前筛查提示16号染色体偏多行产前诊断,羊水基因组拷贝数变异测序（copy number variants sequencing,CNV-Seq）结果显示16三体嵌合体（16%）。孕37⁺²周因胎儿小于孕周3周于天津市中心妇产科医院就诊,因胎儿宫内窘迫行急诊剖宫产,新生儿为足月小样低体质量儿。对新生儿外周血及胎盘多位点取样分别进行核型分析和高通量测序,结果显示新生儿核型为46, XX, 16qh+,胎盘检测结果为16三体嵌合体。随访至出生5个月,生长发育正常。该病例及文献复习提示羊水穿刺仅CNV-Seq一项检测显示染色体嵌合体者,有必要结合荧光原位杂交技术或单核苷酸多态性-微阵列比较基因组杂交技术验证,并密切监测超声,给予合理的遗传咨询;限制性胎盘嵌合型16三体引起胎盘功能障碍可导致FGR。     

Maternal and fetal plasma vitamin E to total lipid ratio and fetal RBC antioxidant function during gestational development

Placental transfer of vitamin E was investigated from 19 to 35 weeks of gestation by analysis of fetal and maternal blood samples for total tocopherol, total lipids, and fetal red blood cell antioxidant reserves. Fifty-two fetal blood samples were obtained under ultrasonographic guide by percutaneous umbilical blood sampling. Thirteen were from fetuses with gestational age less than or equal to 22 weeks (x serum vitamin E = 0.4 +/- 0.14 mg/dl), 12 were from fetuses at 23-27 weeks gestation (x serum vitamin E = 0.4 +/- 0.21 mg/dl), and 27 were from fetuses with gestational age 28-38 weeks (x serum level = 0.37 +/- 0.18). Total lipid levels ranged from 140 to 216 mg/dl. Maternal plasma vitamin E concentrations correlated significantly with concurrent values in the fetus. There were no significant differences in serum vitamin E levels or vitamin E to total lipid ratio in samples from early, mid, or late gestation in either the mother or fetus. Red blood cell antioxidant reserve on samples from 18 fetuses were grossly abnormal by three different functional assays. On the basis of these data, placental transfer of vitamin E appears to be relatively constant through advancing gestation. Red blood cell antioxidant reserve is uniformly low.     

Maternal and fetal plasma vitamin E to total lipid ratio and fetal RBC antioxidant function during gestational development.

Placental transfer of vitamin E was investigated from 19 to 35 weeks of gestation by analysis of fetal and maternal blood samples for total tocopherol, total lipids, and fetal red blood cell antioxidant reserves. Fifty-two fetal blood samples were obtained under ultrasonographic guide by percutaneous umbilical blood sampling. Thirteen were from fetuses with gestational age less than or equal to 22 weeks (x serum vitamin E = 0.4 +/? 0.14 mg/dl), 12 were from fetuses at 23-27 weeks gestation (x serum vitamin E = 0.4 +/? 0.21 mg/dl), and 27 were from fetuses with gestational age 28-38 weeks (x serum level = 0.37 +/? 0.18). Total lipid levels ranged from 140 to 216 mg/dl. Maternal plasma vitamin E concentrations correlated significantly with concurrent values in the fetus. There were no significant differences in serum vitamin E levels or vitamin E to total lipid ratio in samples from early, mid, or late gestation in either the mother or fetus. Red blood cell antioxidant reserve on samples from 18 fetuses were grossly abnormal by three different functional assays. On the basis of these data, placental transfer of vitamin E appears to be relatively constant through advancing gestation. Red blood cell antioxidant reserve is uniformly low.     

羊膜腔灌注术治疗孕中期病理性妊娠羊水过少15例

目的探讨羊膜腔灌注术治疗妊娠中期羊水过少的效果。方法对15例孕24～27周合并慢性疾病的羊水过少患者通过羊膜腔灌注术处理,观察孕周的延长、胎儿娩出后的存活率等妊娠结局,并与对照组比较。结果观察组中10例有效,其中3例孕周延长达35周,3例达32周终止,均行剖宫产终止妊娠,6例早产儿均存活;4例分别延长至29周、29＋3周、30＋2周和30＋3周,其中1例胎儿出生后存活,随访至1岁无异常,其余3例出生后死亡,未发现畸形等;5例无效,分别发生自然流产和死胎;对照组14例中有10例达孕周25～27周间胎死宫内或自然流产,2例于妊娠30周分娩,胎儿出生后死亡,2例于孕32周后分娩,胎儿正常。两组妊娠结局相比,经羊膜腔灌注处理后孕周延长、胎儿活产数明显优于未处理者。结论羊膜腔灌注治疗羊水过少对治疗妊娠中期羊水过少而无胎儿畸形者是一个有效的方法。     

妊娠中期人绒毛膜促性腺激素联合甲胎蛋白筛查唐氏综合征的临床价值

目的:探讨妊娠中期人绒毛膜促性腺激素(HCG)联合甲胎蛋白(AFP)产前筛查糖氏综合征(DS)的临床价值。方法:采用酶联免疫吸附法对孕14~20周的孕妇进行血清HCG和AFP检测,结合孕妇年龄、孕周、体重等因素,利用配套软件计算风险率,DS风险切割值1∶275。筛查为高风险的孕妇进行遗传咨询,在知情同意的情况下进行羊水细胞染色体检查。每例筛查孕妇追踪到出生。结果:655例孕妇中,筛查出高危孕妇34例,在阳性孕妇中发现DS 2例。本方法的灵敏度、特异度分别为为100.00%(2/2)、95.10%(621/653),假阳性率为4.90%(32/653)、无假阴性病例;阳性预测值、阴性预测值分别为5.88%(2/34)、100.00%(621/621)。结论:孕妇血清HCG联合AFP筛查DS具有经济、有效、操作简便的优点,能显著降低进行创伤性产前诊断的孕妇比例,降低DS患儿的出生率,有临床推广的应用价值。