系统超声联合染色体检测对于诊断胎儿畸形的重要意义

目的探讨系统胎儿超声检查在诊断中孕期胎儿畸形中的价值。方法采用SEQUOIA512超声诊断系统对我院2000～2008年共23 955例中晚孕期胎儿进行系统胎儿超声检查。检查项目包括：头颅、胸腔、腹腔及骨骼。对有畸形提示的均做羊水细胞染色体和胎儿脐血染色体检查,并与超声检查结果对照。结果超声诊断胎儿畸形228例,119例在28周前作出诊断。结论中孕期对胎儿进行系统超声和染色体检查可对大多数胎儿主要畸形提供可靠的诊断信息。     

产前超声筛查胎儿畸形1850例结果分析

目的分析产前超声筛查胎儿畸形结果,为胎儿畸形筛查方案选择提供参考。方法分析2015年1月～2017年6月在本院行孕期保健的1850例孕妇临床资料,所有孕妇均于妊娠后10w内建档,并按照《中国孕前孕期保健检查规范》规定行产前保健检查。对于孕期超声筛查发现畸形者,根据畸形部位、数量、程度、对发育的影响等因素,综合考虑确定处置办法:终止妊娠、继续妊娠。并对终止妊娠胎儿行病理检查,所有胎儿出生后均行超声检查,进一步确认是否有畸形。统计产前超声诊断胎儿畸形结果(例数、畸形部位、畸胎高危因素)、处置方法、病理诊断结果、检出胎儿畸形孕周分布、超声确诊胎儿畸形所用方法,综合分析产前超声检查胎儿畸形的合理方案。结果 1850例孕妇产前超声检查共确诊胎儿畸形41例,畸形部位以神经系统、泌尿系统、心血管系统、消化系统为主。41例超声诊断胎儿畸形中,12例终止妊娠。二维超声确诊畸形26例,二维联合四维超声确诊41例。新生儿超声筛查畸形34例,其中29例与产前筛查诊断比一致,漏诊5例,漏诊率10.87%。孕18～24w检出胎儿畸形占比明显高于其他孕周段检出畸形率(P0.05)。病理检查和新生儿筛查畸形出生缺陷的46例孕妇中43例具有畸胎高危妊娠因素,占比达93.48%。主要以遗传、母体感染、接触射线、长期接触化学物质为主。结论对有胎儿畸形高危因素的孕妇,可在规范的基础上增加产前超声检查筛查胎儿畸形的频次及增加四维超声检查,尽可能降低胎儿畸形漏诊率及出生缺陷率,提升母儿妊娠结局。     

产前系统超声检查对中孕期胎儿畸形筛查的临床应用价值

目的:对产前系统超声检查在中孕期胎儿畸形筛查中的应用价值进行分析.方法:回顾性分析2018年6月至2020年6月前收治中孕期孕妇数据资料,共计600例,均进行系统超声检查,分析检查结果与胎儿畸形类型.结果:经分娩或引产证实胎儿畸形共16例,系统超声检出15例,检出准确率为93.8％,漏诊1例,漏诊率为6.3％,无误诊.系统超声32切面检查准确度与敏感度虽然高于9切面检查,但无统计学差异(P>0.05).结论:产前系统超声检查在中孕期胎儿畸形筛查中有着重要意义,可有效提高胎儿畸形检出率,具有推广价值.     

系统超声检查对11-13~(+6)周胎儿开放性脊柱裂的诊断价值

目的探讨超声检查对早孕期胎儿开放性脊柱裂的诊断价值。方法选取2013年6月-2015年6月来本院行早孕期11-13~(+6)w的NT测量的孕妇共5238例。对11-13~(+6)w胎儿行胎儿系统超声检查,除测量胎儿头臀长、NT及静脉导管的检测外并引用中孕期颅脑超声检查的标准切面对胎儿神经系统畸形进行筛查。严重畸形胎儿建议胎儿父母选择终止妊娠。结果系统超声检查共筛查出开放性脊柱裂18例(0.3436%),其中合并露脑畸形4例,全前脑2例,肢体畸形2例,脑积水3例,一侧侧脑室扩张5例。结论系统超声检查可以筛查出部分早孕期11-13~(+6)w胎儿的开放性脊柱裂,对早期诊断严重畸形有重要意义。     

应用超声诊断早孕期胎儿中枢神经系统畸形的价值研究

目的探讨超声对早孕期胎儿中枢神经系统畸形的诊断价值。方法对2015-2017年我院产科超声门诊的4500例孕11-14w孕妇进行产前早孕期筛查超声,分析总结胎儿中枢系统畸形超声表现和诊断价值。结果共检出118例胎儿中枢神经系统畸形,其中露脑畸形25例,脑积水44例,脑膨出21例,全前脑9例,开放性脊柱裂12例,脊柱侧弯7例;其中11-14w系统超声筛查中枢神经系统未发现明显异常,中晚孕期系统超声检查发现异常7例:小脑发育不良2例,脊柱侧弯2例,全前脑1例,胼胝体发育不良2例。产前诊断的病例均经引产证实。结论产前系统超声检查对11-14w胎儿中枢神经系统畸形诊断具有重要意义,值得推广。但对于不易发现的中枢神经系统畸形如脊柱侧弯,胼胝体发育不全或缺如,小脑发育不良仍需要中晚孕期系统超声筛查进行有效的补充。     

产前超声对孕晚期胎儿畸形补漏筛查的应用价值

目的探讨超声对孕晚期胎儿畸形补漏筛查的应用价值。方法选择2012年1月至2014年1月在北京军区总医院进行过中孕期系统胎儿超声检查未见异常的孕妇5582例,均于晚孕期28w~40w再次进行胎儿系统筛查,所有孕妇均生产或引产。结果晚孕期共筛查出胎儿畸形41例,分别是:泌尿系统畸形13例,神经系统畸形9例,胎儿肿瘤及异常囊性结构6例,胸腔异常及消化系统异常各5例,心血管畸形3例。结论在晚孕期,针对胎儿迟发畸形好发部位进行有意识的详细检查可以进一步提高胎儿畸形产前检出率。     

中孕期胎儿肢体骨骼畸形的超声诊断价值

目的观察和探讨胎儿四肢骨骼系统发生畸形产前超声诊断情况,针对不同孕期检出率进行比较分析,以期为临床诊断和预测胎儿肢体骨骼畸形提供客观的理论依据。方法入选于我院进行产前超声筛查的孕妇2380例作为研究观察对象,对产前超声诊断为肢体骨骼畸形的胎儿进行引产后经放射线诊断和尸检结果证实均存在肢体骨骼畸形,分析产前超声检查对胎儿肢体骨骼畸形检出情况,并针对不同孕期的诊断准确性进行对比分析。结果经筛查结果显示,2380例胎儿经孕妇产前常规超声检查出现肢体骨骼畸形28例,肢体骨骼畸形发生率为1.18%。对不同类型胎儿肢体骨骼畸形进行超声筛查结果显示,经引产或尸检证实例数为45例,其中产前超声诊断符合率为62.2%,产后证实率为37.8%;针对不同孕周胎儿肢体骨骼畸形超声筛查结果进行统计分析结果显示,孕18~24w检出率高达93.75%,孕25~32w检出率高达93.33%,其检出率明显高于孕11~17w(37.5%)及孕期33w(50%),差异具有显著性(P﹤0.05)。结论产前超声检查诊断胎儿肢体骨骼系统发育畸形准确率较高,同时具有无创性、可重复性、安全性等优势,特别是中孕期进行超声诊断大大提高了畸形的检出率,因此在中孕期进行超声诊断是产前诊断胎儿肢体骨骼畸形的有效手段。     

产前超声诊断胎儿畸形的临床观察与分析

目的探讨产前超声诊断胎儿畸形的临床价值。方法对我院自2011年1月-2014年12月分娩的347例产妇产前超声诊断胎儿畸形病例进行回顾性分析。结果孕期超声诊断心血管系统畸形例数低于引产或分娩后畸形例数,神经系统畸形和消化系统畸形超声诊断例数均高于引产与分娩后畸形例数。以上三个系统在超声诊断与引产或分娩胎儿畸形的发生,具有统计学意义(P0.05),差异具有显著性。结论超声检查作为诊断胎儿畸形的检测手段,具有重要的临床意义。但在产前超声检查中,心血管系统常存在漏诊,神经系统及消化系统易发生误诊,工作中应加强学习和交流,不断提高诊治水平,以减少漏诊、误诊的发生率。     

彩超筛查早中孕期胎儿畸形的临床价值

目的探讨彩超在产前筛查和诊断早中孕期胎儿畸形中的临床价值。方法对817例早中孕期妊娠的孕妇进行彩超筛查。结果发现胎儿畸形16例,全部病例均经染色体及病理检查。结论彩超筛查早中孕期胎儿畸形有较高的临床价值,应作为早中孕期常规首选检查方法。     

孕11～14周超声筛查诊断胎儿畸形的技术研究

目的探讨孕11~14w超声筛查诊断胎儿畸形的的临床价值。方法通过对2010年1月至2014年6月来我院正规产检的3990例孕11~14w孕妇,采用GE-E8、GE-730等仪器。经腹部扫查,对11-14w胎儿行胎儿系统超声检查,同时对胎儿各系统畸形进行筛查。结果 (1)正规产检单胎妊娠3990例,产前超声发现异常共71例。(2)11~14w检出异常胎儿46例(64.79%,46/71),其中严重胎儿畸形31例;行染色体相关检查13例,异常9例(3例核型异常,6例NIPT阳性)。(3)中晚孕期检出25例(35.21%,25/71)异常胎儿。结论 11-14w胎儿系统超声筛查诊断有助于胎儿严重畸形的早期发现,做到早期诊断,早期干预;建立早孕期胎儿系统超声检查技术标准,开展规范化培训将对优生优育起到重要意义,但孕1l~14周超声筛查不能替代中晚孕期的后续超声检查。     

产前超声诊断先天性心脏病合并心外畸形的应用及对优生优育的指导价值

目的探讨产前超声诊断应用于先天心脏病合并心外畸形的临床价值及对优生优育的指导价值。方法选取2017年5月~2018年5月于我院接受产前超声诊断结果异常的132例孕妇作为主要研究对象,所有孕妇均接受产前超声诊断,并产后随访6个月,分析其CHD及合并心外畸形的类型,以及产前超声诊断的临床价值。结果132例参与研究的孕妇中,随访成功108例,随访率为81.82%。随访成功的108例孕妇中,共检出24例CHD胎儿,产前超声诊断检出21例,诊断准确率为87.50%,漏诊率为12.50%。19例仅引产后尸体解剖检查证实为CHD,5例经出生后超声复查证实为CHD。24例CHD胎儿中,单纯先天性心脏病13例,其中4例完全性大动脉移位、3例左心发育不良、1例法洛四联症、5例完全性心内膜垫缺损,合并心外畸形11例,其中1例三尖瓣下移畸形合并肾积水,肺囊腺癌、7例室间隔缺损合并肾积水,内腔反位,脐膨出、1例法洛四联症合并羊水少,脊柱侧弯、1例永存左上腔静脉合并肾积水、1例右室双出口合并马蹄内翻足。对11例CHD合并心外畸形的胎儿进行随访,其中10例选择引产,1例室间隔缺损合并肾积水,内腔反位,脐膨出的孕妇选择继续妊娠,产后随访妊娠结果与产前超声诊断结果基本相同。结论产前超声诊断应用于先天性心脏病合并心外畸形胎儿的临床价值较高,且对优生优育具有一定的指导作用。     

孕中期胎儿心血管畸形超声检测NT值与染色体核型检测的关系探讨

目的探讨孕中期胎儿心血管畸形超声检测NT值与染色体核型检测的关系。方法选取2015年1月至2017年12月因胚胎发育不良(心脏发育畸形或异常)于本院行产前检测的孕妇108例,所有产妇均于孕24~35w行超声NT检查和经腹脐静脉穿刺术取胚胎绒毛组织的染色体核型检测,观察染色体核型检测情况,分析染色体核型检测正常与异常胎儿的超声NT值差异,并采用spearman相关性分析法分析胎儿超声NT值与染色体核型检测是否正常的相关性。结果108例病例中,染色体核型检测正常者30例(27.78%),染色体核型检测异常者78例(占比72.22%)。染色体核型检测正常胎儿心血管超声NT层厚值(3.83±0.54mm)低于染色体核型检测异常胎儿(4.64±0.63mm)(P<0.05)。spearman相关性分析显示,胎儿超声NT值与染色体核型检测是否正常具有明显的负相关性(r=0.871,P=0.018<0.05)。15例继续妊娠至分娩的胎儿中,10例(包括7例染色体核型检查异常胎儿)出生后心脏功能发育异常(或畸形),其余5例出生后未出现心脏功能发育异常(或畸形),且随访至12个月仍未出现心脏功能发育异常(或畸形)。结论通过染色体核型检测对心血管畸形胎儿绒毛组织进行染色体核型检测,可发现染色体中小至100Kb片段的缺失或重复,也可发现潜在致病基因序列,孕中期胎儿心血管超声检测NT值与染色体核型检测是否正常具有明显相关性,可作为心血管发育畸形胎儿染色体核型检查的参考指标,超声检测NT检查和染色体核型检测在胎儿心血管畸形的临床诊断中均具有良好的前景。     

Not all cystic hygromas occur in the Ullrich-Turner syndrome

We report two sib fetuses with nuchal systic hygroma and cleft palate. This condition is probably recessively inherited as the parents have normal chromosomes (G-banded) and the fetuses were of opposite sex. Nuchal cystic hygroma is a nonspecific malformation, which reflects a delay in development of the connection between the jugular lymph sacs and the internal jugular vein. This fetal malformation and its equivalent in the adult, neck webbing, has been reported to be a part of a variety of genetic malformation syndromes. Some suggestions for counseling parents of an affected fetus are made: If the chromosome karyotype of an affected fetus is unknown, ultrasound examination, rather than AFP studies, is suggested for future pregnancies.     

产前超声在胎儿鼻骨缺失与鼻骨短小中的诊断效果及与预后的相关性研究

目的研究产前超声在胎儿鼻骨缺失与鼻骨短小中的诊断效果及与预后的相关性。方法随机选取2016年8月至2018年8月我院中孕期孕妇的鼻骨发育异常胎儿138例,采用彩色多普勒超声诊断仪对其进行产前超声检查,然后统计分析鼻骨缺失和鼻骨短小胎儿合并畸形情况、单纯和合并畸形鼻骨发育异常胎儿的染色体异常发生情况、单纯鼻骨缺失和鼻骨短小胎儿的染色体异常发生情况。结果 138例鼻骨发育异常胎儿中,48例鼻骨缺失,14例合并畸形,合并畸形率为29.2%;90例鼻骨短小,26例合并畸形,合并畸形率为28.9%。鼻骨缺失和鼻骨短小胎儿合并畸形率之间的差异不显著(P>0.05)。接受染色体检查82例,其中64例为单纯鼻骨发育异常,8例染色体异常,染色体异常发生率为12.5%;18例为鼻骨发育异常合并畸形,14例染色体异常,染色体异常发生率为77.8%。鼻骨发育异常合并畸形胎儿的染色体异常发生率显著高于单纯鼻骨发育异常胎儿(P<0.05)。单纯鼻骨发育异常胎儿64例中,18例单纯鼻骨缺失,其中1例染色体异常,染色体异常发生率为5.6%;46例单纯鼻骨短小,其中6例染色体异常,染色体异常发生率为13.0%。单纯鼻骨缺失和鼻骨短小胎儿的染色体异常发生率之间的差异不显著(P>0.05)。结论产前超声在胎儿鼻骨缺失与鼻骨短小中的诊断效果好,能够将有效依据提供给临床治疗,从而有效改善患者预后,值得推广。     

216例胎儿泌尿系畸形超声诊断分析

目的探讨超声诊断胎儿泌尿系统畸形声像图特征和临床应用价值。方法应用彩色多普勒超声对产前诊断为泌尿系统畸形的胎儿进行图像分析并与产后结果对照研究。结果胎儿泌尿系统畸形216例,其中肾积水176例,婴儿型多囊肾6例,成人型多囊肾5例,多囊性发育不良肾19例,肾缺如6例,盆腔异位肾2例,重复肾2例。结论产前超声（彩色多普勒）在诊断胎儿泌尿系统畸形上是一种成熟的影像技术,对胎儿预后判断,指导临床医生及时采取相应产前措施,对优生优育和新生儿早期治疗均有十分重要的临床实际意义。     

Pattern of malformations in the axial skeleton in human trisomy 13 fetuses

The purpose of this study was to analyse the development of the axial skeleton in human trisomy 13 fetuses and to define which fields in the axial skeleton are affected in this condition. We investigated nine human fetuses with trisomy 13 and gestational ages of 14-19 weeks. Whole body radiographs and radiographs of midsagittal tissue blocks of the cranial base and the spine were studied. In the youngest fetus, 14 w GA, no malformations were observed. In eight fetuses, 17-19 weeks GA, malformations occurred in the lumbosacral spine. In four fetuses additional malformations were observed in the thoracic spine. The study showed that there was a correspondence between the extent of malformation in the lumbosacral spine and the thoracic spine. When mild malformation occurred in the lumbosacral region, no malformation was observed in the thoracic region, whereas malformation was observed in the thoracic region when there was extensive malformation in the lumbosacral region. Malformations did not occur in the cervical spine or the basilar part of the occipital bone, but the postsphenoidal part of the sphenoid bone was small and irregular in the six cases where it could be examined. In seven fetuses there was malformation or agenesis of the nasal bone. This pattern of axial skeletal malformations in trisomy 13 fetuses was not described previously. Comparisons are made with previous studies of the fetal axial skeleton in trisomy 18 and trisomy 21, where the pattern of malformations was different. We reiterate our recommendation that axial skeletal radiography should be part of the postmortem examination of fetuses with suspected or verified chromosome abnormalities. Am. J. Med. Genet. 70:421–426, 1997. © 1997 Wiley-Liss, Inc.     

Contribution of apoptosis and apoptosis-related proteins to the malformation of the primitive intrahepatic biliary system in Meckel syndrome

In the developing liver, the complete or partial persistence of the primitive double-layered cylinder of biliary-type cells that surrounds the branches of portal vein and its mesenchyme gives origin to portal tracts with an increased number of bile duct structures. The term "ductal plate malformation of the liver" was coined to label the insufficient remodeling of the primitive intrahepatic biliary system. Meckel syndrome is an autosomal recessive inherited disease characterized by occipital encephalocele, postaxial polydactyly, diffuse cystic renal dysplasia, and malformation of the ductal plate of the liver. We studied 52 fetuses with Meckel syndrome from five German centers (Berlin, Freiburg, Heidelberg, Mainz, and Marburg). Analysis of apoptosis and cell proliferation (Ki-67) was performed by terminal deoxynucleotide transferase-mediated dUTP nick-end labeling (TUNEL) and immunohistochemistry in the liver of 24 normal fetuses of different gestational ages (14-38 weeks of gestation) and in 14 fetuses with Meckel syndrome (17-38 weeks of gestation). The expression of two apoptosis-related proteins, Fas (a transmembrane cell surface protein involved in the apoptosis) and Bcl-2 (an anti-apoptotic protein), was studied by immunohistochemistry in the liver of 11 normal fetuses of different gestational ages (14-40 weeks of gestation) and in 40 fetuses with Meckel syndrome (16-38 weeks of gestation). In control fetuses, apoptosis rate and cell proliferation were high in the remodeling ductal plate and moderate in the ductal plate and in remodeled bile ducts. During gestation, expression of Fas and Bcl-2 decreased and increased, respectively. The malformed ductal plates in the fetal livers with Meckel syndrome showed a marked decrease in the apoptotic rate and Fas expression and an increase in proliferative activity and Bcl-2 expression in comparison with control fetuses. Furthermore, by linear regression analysis, we found that both proliferation activity and apoptosis rate in the ductal plate malformation of fetuses with Meckel syndrome were practically constant along the gestation. These results, which represent the first systematic study of apoptosis in ductal plate malformation of the liver, indicate that 1) animals harboring the gene defect of Meckel syndrome could be a good model for the study of the abnormal development of the primitive intrahepatic biliary system, 2) a decreased cell turnover occurs in the ductal plate malformation of fetuses with Meckel syndrome, and 3) the increase of Bcl-2 expression contributes to the pathogenesis of the lack of remodeling of ductal plate of the liver in Meckel syndrome.     

早孕期唇腭裂的超声诊断初探

目的探讨二维颜面部正交叉三切面联合扫查以及三维新技术在早孕期唇腭裂诊断中的应用价值。方法选取2018年6月至2019年7月于宁夏医科大学总医院接受早孕期产前超声筛查的胎儿599例,头臀径(CRL)50~84 mm。首先应用二维超声评估胎儿腭部的3个重要标志,即腭线(正中矢状切面)、上颌骨牙槽突(横切面)和鼻后三角底部(冠状切面)。然后适当放大可疑胎儿以及30例正常胎儿面部图像,采集正中矢状切面三维容积数据,应用TUI、OmniView等技术观察腭部,并给予脱机分析。所有胎儿均进行中孕期超声畸形筛查,并在产后或引产后给予追踪随访。结果本研究599例胎儿共发现7例不同类型的裂缺,其中单侧唇腭裂3例,双侧唇腭裂2例,中央型唇腭裂2例,其余胎儿3个超声标志均没有回声缺失或连续性中断,敏感度为87.5%,特异性为100%,假阳性率为0,假阴性率为12.5%。产前诊断结果均经产后或引产后证实。结论二维颜面部三切面联合扫查可用于筛查早孕期唇腭裂,三维容积数据分析有利于唇腭裂类型的精确诊断。     

应用SELDI-TOF-MS筛选神经系统先天畸形胎儿羊水诊断标志物

目的分析神经系统先天畸形胎儿羊水和神经系统正常胎儿羊水的蛋白质表达差异。方法选择8例神经系统畸形胎儿羊水,其中男性4例,女性4例;孕妇年龄21～32岁,平均年龄24.9岁;孕周19～34周,平均孕周23.1周。30例经超声检查神经系统正常胎儿羊水作为对照组,其中男性15例,女性15例;孕妇年龄22～29岁,平均年龄25.1岁;孕周19～22周,平均孕周21.2周。运用表面增强激光解吸离子化飞行时间质谱(SELDI-TOF-MS)蛋白质芯片技术检测神经系统先天畸形胎儿羊水和神经系统正常胎儿羊水蛋白质表达图谱。胎儿羊水用WCX2(弱阳离子交换)芯片检测,采用PBSⅡC型蛋白质芯片阅读机读取数据,Protein-Chip software 3.1软件采集数据,Biomarker Wizard软件分析两组羊水的蛋白质差异。结果 SELDI-TOF-MS技术检测发现神经系统先天畸形胎儿羊水和神经系统正常胎儿羊水的蛋白质存在差异表达,共有9个蛋白质水平发生变化,其中质/荷比4 967.526、5 258.056、11 717.010的差异蛋白质在神经系统异常组表达下调,2 540.415、3 107.119、3 396.759、4 590.965、5 589.200、6 429.417的差异蛋白质在神经系统异常组表达上调。结论神经系统先天畸形胎儿羊水和神经系统正常胎儿羊水之间的蛋白质谱有差异蛋白质表达,检测到9个代表性的差异蛋白质很可能是神经系统疾病胎儿的羊水特异性生物标志物。     

Diagnostic distinction between anencephaly and amnion rupture sequence based on skeletal analysis.

The axial skeletal development of eight second trimester aborted fetuses, clinically diagnosed as amnion rupture sequence with cranial involvement, was examined radiographically and histologically. Three of the eight fetuses showed axial skeletal malformation in the spine and the craniofacial skeleton corresponding to the malformations seen in anencephaly. These are vertebral body malformations, consisting of double corpora and of osseous malformations in the components of the cranial base, the corpus of the occipital bone, and the postsphenoid bone. These types of malformation, which have previously been described, are located along the original course of the notochord. The findings show that it is possible by means of radiography of the axial skeleton to distinguish between anencephalic fetuses which become secondarily involved in amnion rupture and fetuses which were initially normally developed. The method supplements detailed fetal examination and provides important information for genetic counselling.