胎儿发育畸形染色体检测与彩色多普勒超声指标的临床关系分析

目的检测胎儿发育畸形染色体,并分析其与彩色多普勒超声指标的临床关系。方法回顾性分析2015年2月至2018年2月在医院接受产前彩色多普勒超声检查结果异常的800例孕产妇和胎儿临床资料,脐带血或羊水核型分析明确是否为染色体病胎儿。根据检查结果将胎儿分为正常组和异常组,对比两组胎儿超声软指标;对比不同染色体异常时超声软指标构成比;采用Spearman相关分析法分析染色体异常与超声指标、发育畸形相关性。结果共检出120例染色体异常胎儿,其中21-三体、性染色体异常构成比较高,分别为45.00%、20.00%;异常组NT增厚、侧脑室增宽、肱/股骨偏短、肠道强回声、脐静脉a波反向胎儿构成比显著高于正常组(P0.05),且不同染色体异常核型胎儿中各超声软指标阳性构成比差异较大;经相关性分析,13-三体胎儿与NT增厚、肾盂分离、肠道强回声、心室灶状强回声呈显著正相关(P0.05);18-三体胎儿与NT增厚、肾盂分离、脉络膜囊肿呈显著正相关(P0.05);21-三体胎儿与肾盂分离、肱/股骨偏短、脉络膜囊肿、肠道强回声、心室灶状强回声呈显著正相关(P0.05),性染色体及其他染色体异常、染色体携带与无显著相关性(P0.05)。结论超声软指标异常与多种染色体异常关系密切,产前接受彩色多普勒超声检查对早期筛查染色体异常导致胎儿发育畸形有重要意义。     

彩色多普勒超声联合胎儿NT检查在双胎妊娠胎儿发育畸形诊断

目的探讨彩色多普勒超声脐带动脉搏动指数(UA)、脑动脉搏动指数(MCA)联合胎儿颈后透明带心血管参数(NT)在双胎妊娠胎儿发育畸形诊断中的应用价值。方法随机选取孕中期双绒毛膜双羊膜双胎妊娠(病例来源:2016年4月～2017年4月)120例,均行产前彩色多普勒超声UA、MCA、NT检测。以最终尸检核查和妊娠结局随访结果作为胎儿畸形诊断的金标准,对比发育正常胎儿与发育畸形胎儿彩超UA、MAC和NT的差异,采用ROC曲线法分析单纯彩超UA、单纯彩超MAC、单纯超声NT及三者联合诊断胎儿发育畸形的敏感度、特异度、准确度。结果本组120例病例的尸检核查及随访(分娩后1年)结果显示,102例双胎胎儿发育均完全正常,15例双胎之一发育异常,3例双胎发育均异常,胎儿发育畸形率为8.75%。发育畸形胎儿的彩超UA、MAC和NT均高于发育正常胎儿(P0.05)。以彩超UA、MAC联合NT诊断双胎妊娠胎儿发育畸形的准确度、敏感度、特异度(85.98%、87.11%、88.93%)高于单纯彩超UA诊断(73.48%、75.43%、68.43%)、单纯彩超MAC诊断(74.63%、73.09%、70.18%)和单纯超声NT诊断(74.12%、73.54%、71.35%)(P0.05)。结论双胎妊娠的胎儿发育畸形风险较高,与正常发育双胎妊娠胎儿相比,发育畸形双胎妊娠胎儿的彩超UA、MAC和NT值均相对较高,超声UA、MCA联合NT检查在双胎妊娠胎儿发育畸形诊断中具有较高价值,且明显优于单纯彩超UA、单纯彩超MAC、单纯超声NT的诊断效能。     

早期超声检测胎儿颈项透明层厚度在胎儿心脏畸形及染色体异常诊断中的应用及相关性

目的探究早期超声检测胎儿颈项透明层厚度对胎儿心脏畸形的诊断作用,以及与染色体异常的相关性。方法选择2016年11月～2017年11月期间在我院进行颈项透明层厚度超声检测和染色体核型分析的孕胎儿228例为研究对象。按照NT厚度分为A组和B组,其中A组213例(NT值3.5mm),B组15例(NT值≥3.5mm)。比较两组患者NT厚度与心脏畸形的发生率及染色体异常发生率的相关性。结果 228例孕妇选择进行染色体核型分析,其中A组213例中有3例染色体结构异常,B组15例中有10例染色体异常;染色体异常和心脏畸形的NT值分别为[(3.51±0.44)mm、(3.38±0.25)mm]显著高于于染色体正常和心脏正常的NT值[(2.42±0.56)mm、(2.49±0.62)mm,(P0.05)];A组胎儿染色体异常及心脏畸形的发生分别为1.41%、1.88%显著高于B组胎儿的66.67%、60.00%,(P0.05);NT值与染色体异常的相关系数为6.5,与心脏畸形的相关系数为5.6,染色体异常合并心脏畸形的的相关系数为4.8,故NT值与染色体异常和心脏畸形呈现显著正相关。结论 NT厚度的增加可以提示胎儿心脏畸形和染色体异常的风险上升,也可以作为胎儿进行染色体分析的重要筛查指标。并且早期超声检测NT的厚度与心脏畸形及染色体异常发生的几率呈正相关。值得临床推广使用。     

超声NT值检测及鼻骨测量联合检测在判断胎儿21号染色体异常中的临床意义

目的通过超声检测11-14w胎儿颈部软组织厚度(nuchal translucency,NT)并联合测量孕16w胎儿鼻骨大小,观察胎儿NT值及鼻骨大小与胎儿21号染色体异常之间的相关性,探索临床产前筛查染色体异常的新方法。方法对2015.1-2016.12潍坊市妇幼保健院的门诊查体孕妇2000例,于妊娠11-14w常规超声测量NT值,妊娠16w超声检测胎儿鼻骨大小,对于NT值及鼻骨大小异常胎儿行染色体检查,观察胎儿NT值及鼻骨大小及与21号染色体异常之间的相关性。结果在2000例门诊查体孕妇中,NT值异常者55例,染色体检查约62%的胎儿出现21号染色体异常,鼻骨异常者75例,染色体检查约58%的胎儿出现21号染色体异常,NT值与鼻骨同时出现异常者,20例,染色体检查约95%的胎儿出现21号染色体异常。结论胎儿鼻骨大小及NT值与胎儿21号染色体异常存在一定的相关性,超声联合测量胎儿鼻骨大小及NT值对产前筛查染色体异常具有重要临床意义。     

染色体检测联合超声在孕早期胎儿发育异常筛查中的意义研究

目的探讨鼻骨超声(NT)联合染色体检测在孕早期胎儿鼻骨发育异常筛查中的临床意义。方法收集2013年1月至2017年1月期间本院产前超声筛查中的291例鼻骨缺失或发育不良孕妇为回顾性分析对象,所有孕妇均行产前超声NT检查和脐静脉血染色体检测,对鼻骨缺失或发育不良胎儿染色体检查结果进行分析,分析超声鼻骨缺失与超声鼻骨发育不良胎儿、超声单纯鼻骨异常与合并其他超声异常胎儿的染色体检查结果差异,统计随访的妊娠结果情况。结果 291例超声鼻骨异常胎儿中,共34例(占比11.68%)染色体检查异常,其中染色体数目异常胎儿共25例(占比73.54%),性染色体异常胎儿共3例(占比8.82%),染色体结构异常胎儿共6例(占比17.64%)。超声鼻骨缺失与超声鼻骨发育不良胎儿的染色体检查异常率比较(11.54%vs11.76,χ~2=0.003,P0.05)。合并其他超声异常胎儿的染色体检查异常率(合并心脏超声异:10.45%;合并侧脑室增:15.38%;合并泌尿系统异常:20.00%;合并骨发育异常:10.87%)高于超声单纯鼻骨异常胎儿的染色体检查异常率(5.26%)(P0.05)。成功随访204例,其中48例(包括8例染色体检查异常胎儿)继续妊娠至分娩。48例分娩产妇中,40例(均为染色体检查正常胎儿)出生后鼻正常,且随访至出生后6个月未见鼻异常,8例(均为染色体检查异常胎儿)为鼻缺陷,或鼻缺失,或鼻部功能异常。结论孕早期胎儿超声筛查出的鼻骨发育异常与胎儿染色体异常的关系密切,但超声鼻骨缺失与鼻骨发育不良的胎儿染色体异常情况无明显差异,而超声单纯鼻骨异常胎儿与合并其他超声异常胎儿的染色体检查情况存在差异,故建议超声鼻骨发育异常胎儿应进行孕早期介入性产前染色体检查,才利于临床诊断和提升妊娠质量。     

产前诊断中胎儿颈项透明层增厚与染色体异常之间的关系

目的探讨胎儿颈项透明层厚度与染色体异常在产前诊断中的关系。方法对2011年2月至2017年4月,在我院经腹超声检查胎儿NT增厚而行孕早期绒毛或孕中期羊水染色体分析的146例孕妇进行回顾分析。结果 146例NT值增厚标本中,染色体核型异常32例,异常检出率为21.92%(32/146)。异常核型中21三体17例,18三体4例,13三体3例,Turner综合征(45,X)3例,47,XX,+mar 1例,其他4例。结论胎儿颈项透明层增厚对染色体异常早期筛查具有重要意义,是孕早中期筛查胎儿染色体异常的敏感而有效的超声指标。     

1369例心血管发育异常胎儿的染色体分析

目的通过对1369例超声筛查心血管发育异常胎儿的染色体分析与研究,探讨不同异常指征与其染色体异常的相关性,给于产前指导评估,减少出生缺陷。方法 2012年1月至2016年5月怀孕17-30周的1369例超声筛查心血管发育异常的胎儿经遗传咨询后羊水穿刺进行核型分析,统计和分析不同类型的心血管异常指征与异常核型的关系及比率。结果 1369例心血管发育异常胎儿中,共检出异常核型56例,异常比率4.09%。按照异常指征分为心室强光点570例,检出异常核型8例,其中21三体3例、易位3例、XO 2例,异常比率1.40%;室间隔缺损122例,检出异常核型6例,其中21三体1例、易位2例、18三体2例、XO 1例,异常比率4.92%;单脐动脉78例,检出异常核型1例,为21三体,异常比率1.28%;血管环23例,检出1例易位核型,异常比率4.35%。其他单纯心血管发育异常(包括心包积液、三尖瓣返流、持续性右脐静脉、肺动脉瓣狭窄或发育畸形等)33例,检出异常核型1例,为21三体,异常比率3.03%;合并两项及以上心血管发育异常指征114例,检出异常核型7例,其中21三体3例、易位3例、mar1例,异常比率6.14%;心血管发育异常合并心外异常(包括NT或NF值增厚、高龄、唐筛高风险、羊水量异常等)指征429例,检出异常核型32例,其中21三体13例、18三体11例、易位1例、缺失3例、mar 2例、三倍体1例、XO 1例,异常比率7.46%。结论先天性心血管发育异常胎儿的染色体异常发生率较高,染色体异常会导致不同类型的心血管及心外发育异常,发现胎儿心脏异常征象时应建议进行染色体检查,避免染色体异常患儿的出生。     

探讨胎儿心脏畸形类型与染色体异常的关系

目的探讨胎儿心脏畸形类型与染色体异常的关系,为遗传咨询提供依据,更好的评估胎儿预后,指导临床处理。方法收集2014年1月至2016年12月因胎儿心脏结构畸形在我院行介入性产前诊断病例共146例,将病例分成心脏单发畸形、心脏复合畸形和心脏畸形合并心外畸形3组,所有病例均进行绒毛、羊水或脐血细胞培养染色体核型分析,20例染色体核型正常的CHD同时行CMA检测CNV。结果 CHD染色体核型异常发生率为17.81%(26/146),其中心脏单发畸形组染色体核型异常占6.25%(5/80),心脏复合畸形组和心脏畸形合并心外畸形组分别占30.77%(8/26)和32.50%(13/40),与心脏单发畸形组比较,差异均有统计学意义(P0.001);CMA检测CNV检出率为10%(2/20),将染色体异常检出率提高近2%。结论胎儿心脏畸形与染色体异常关系密切,特别是心脏复合畸形或心脏合并心外畸形,染色体异常检出率高,而CNV检测可以提高染色体异常检出率;因此,当产前超声诊断胎儿心脏畸形时,特别是心脏复合畸形或心脏合并心外畸形时,应建议行胎儿染色体核型分析及CNV检测,以更好的评估胎儿预后,为遗传咨询提供依据,减少染色体异常的CHD患儿出生。     

超声NT值、血清PAPP-A、PLGF水平与孕中期胎儿染色体异常相关性分析及对妊娠结局的影响

目的探究超声胎儿颈部透明层厚度(NT)值、血清妊娠相关蛋白-A(PAPP-A)、胎盘生长因子(PLGF)水平与孕中期胎儿染色体异常相关性分析及对妊娠结局的影响。方法选取我院2017年1月～2019年6月孕中期胎儿染色体异常孕妇120例作为研究组,另选同期孕中期胎儿染色体正常孕妇120例作为对照组。均行超声NT检查、血清PAPP-A、PLGF水平检测。比较两组超声NT值、血清PAPP-A、PLGF水平,应用Logistic回归分析探究孕中期胎儿染色体异常发生影响因素,应用Pearson分析超声NT值、血清PAPP-A、PLGF水平与孕中期胎儿染色体异常相关性,统计对比研究组不同妊娠结局者孕中期超声NT值、血清PAPP-A、PLGF水平,应用受试者工作特征曲线(ROC)评价孕中期超声NT值、血清PAPP-A、PLGF水平对不良妊娠结局的预测价值。结果研究组超声NT值高于对照组,血清PAPP-A、PLGF水平低于对照组(P0.05);Logistic回归分析显示,超声NT值、血清PAPP-A、PLGF水平是孕中期胎儿染色体异常发生的重要影响因素(P0.05);经Pearson分析可知,超声NT值(r=0.724)与孕中期胎儿染色体异常呈正相关,血清PAPP-A(r=-0.416)、PLGF(r=-0.622)水平与孕中期胎儿染色体异常呈负相关(P0.05);研究组不良妊娠结局者孕中期超声NT值高于良好妊娠结局者,血清PAPP-A、PLGF水平低于良好妊娠结局者(P0.05);ROC曲线分析显示,孕中期超声NT值AUC为0.763,大于血清PAPP-A(0.632)、PLGF(0.637),当截断值3.98时,敏感度为75.00%,特异度为75.00%。结论超声NT值与孕中期胎儿染色体异常呈正相关,血清PAPP-A、PLGF水平与之呈负相关,且属于孕中期胎儿染色体异常发生的重要影响因素,在预测不良妊娠结局方面具有可靠临床价值。     

S0N0NT检测早孕期双胎妊娠NT合并胎儿染色体异常产前诊断的价值

目的探讨S0N0NT检测早孕期双胎妊娠胎儿NT筛查染色体异常的研究。方法选择2015年1月至2016年4月本院及协作医院孕11~13+6w双胎早孕,应用自动颈后透明层厚度测量(Sonography-based Nuchal Translucency)S0N0NT检测早孕期双胎妊娠胎儿NT筛查染色体异常,对发现的双胎妊娠胎儿NT增厚者,进行绒毛活检术或羊膜腔穿刺术行染色体检查,确诊染色体异常的胎儿在超声引导下行选择性减胎术治疗,并对妊娠结局进行跟踪分析。结果 10例NT增厚,4例染色体异常,分别为21-三体综合征2例,1例Turner综合征,1例染色体微缺。另6例患者在早中期超声复查中,发现其中3胎儿结构异常,分别为颈部淋巴管囊肿、心脏异常、全身水肿等。10例患者中4例染色体异常患者行选择性减胎。3例足月分娩,新生儿均未见异常。结论双胎妊娠应注重早孕期染色体筛查,确诊宫内胎儿染色体异常的患者可在超声引导下行选择性减胎术治疗,而对早中期超声检查发现其中的三胎儿结构异常者,根据父母意愿,选择妊娠去留,为临床及孕妇提供客观的诊断依据。     

Triply discordant triplets: probability, management options, and risks.

The spontaneous occurrence of triplets is rare. With increased utilization of "assisted reproductive technologies," multifetal gestations have become more common. The empiric fetal risk for major malformation is approximately 3%. In a triplet pregnancy each fetus independently carries this risk so that the probability of having at least one malformed fetus is approximately 9%. It is much less likely to have 2 or 3 simultaneously but discordantly malformed fetuses in a multizygotic triplet gestation (.09% and .0027% risk, respectively). We report on the first case, to our knowledge, of an ovulation-stimulated triplet pregnancy complicated by 3-way discordance for major malformations diagnosed in the late second trimester by ultrasound. Fetus A was affected by congenital diaphragmatic hernia and trisomy 21; fetus B had encephalocele, a midline facial defect, and a cleft palate; and fetus C had evidence of unilateral claw hand but an otherwise normal fetal survey. At 19 weeks of gestation, fetus A was found to have spontaneously died, and a selective termination of triplet B was performed. We conclude: (1) the finding of a single major malformation in one fetus should lead to extensive search for malformations in all members of the pregnancy, and (2) the simultaneous occurrence of major malformations in more than one member of a multifetal gestation is a circumstance under which multiple selective termination deserves consideration. In this article we discuss important issues and caveats in the performance of selective termination for abnormal members of multifetal gestations.     

60例孕11-13~（＋6）周颈项透明层增厚胎儿的妊娠结局分析

目的探讨孕11-13＋6周超声检查中颈项透明层增厚的胎儿与畸形风险增加的关系。方法孕周11-13＋6周孕妇,经腹超声检查,测量胎儿颈项透明层厚度≥3mm的病例共60例,对60例胎儿进行介入性产前诊断,进行染色体核型分析,随访妊娠结局及新生儿情况。结果 60例颈项透明层增厚胎儿中,共发现异常胎儿17例,占28.3%（17/60）其中9例胎儿为非整倍体染色体核型,8例染色体正常胎儿在后续超声随访中出现异常胎儿畸形,预后不良。结论颈项透明层增厚是胎儿染色体异常的重要指标,在早期胎儿畸形筛查及产前检查中有十分重要的临床意义。以颈项透明层增厚作为早期干预的依据,可以使介入性产前诊断更具有针对性。     

Fetal ultrasound abnormalities: Correlation with fetal karyotype,autopsy findings,and postnatal outcome—five-year prospective study

A 5-year prospective prenatal study in 151 pregnancies with 152 malformed fetuses detected by ultrasound was evaluated cytogenetically. Thirty-five fetuses (23%) had abnormal karyotypes. Specific anatomical fetal malformations identified by ultrasound increase the risk for fetal chromosome abnormalities. Risks of abnormal chromosomes in the fetus are present with both single and multiple anomalies including amniotic fluid volume although the risk is increased with specific anatomical systems and multiple malformations. An abnormal fetal karyotype was present in 17% with a single anatomical abnormality and 30% when two or more anatomical systems were involved. Fetal hydrops, duodenal atresia, and omphalocele were the most specific single ultrasound anomalies; fetal hydrops, IUGR, holoprosencephaly, congenital heart disease, diaphragmatic hernia, duodenal atresia, and omphalocele were the most specific multiple anomalies with abnormal amniotic fluid volume. Termination of pregnancy occurred in 32/58 patients diagnosed prior to the 20th week of pregnancy with most (31/32) having a chromosomal anomaly or severe fetal anomaly. Fetuses terminated after the 20th week had chromosomal (7/18) or lethal fetal anomalies (11/18). The most common aneuploidies were trisomy 21, trisomy 18, and 45,X. The decision to terminate the pregnancy was based in most cases on the fetal ultrasound findings. Correlation of ultrasound and clinical findings is important for accurate genetic counselling. © 1992 Wiley-Liss, Inc.     

产前超声筛查胎儿心脏畸形结果分析

目的 探讨胎儿心脏畸形超声系统检查检出率、超声检查最佳时机及漏诊情况。方法 2013年1月~2016年8月51290例孕早、中、晚期孕妇,依据中国医师协会《产前超声检查指南(2012)》标准与要求进行筛查胎儿心脏畸形。结果 超声产前检出胎儿心脏畸形263例,检出率为5.13‰,各年间胎儿心脏畸形检出率比较,差异无统计学意义(P＞0.05)。孕早期、中期、晚期胎儿心脏畸形检出率分别为1.25‰、7.71‰、5.13‰,三个孕周间胎儿心脏畸形检出率比较,差异有统计学意义（P＜0.05）;孕早期胎儿心脏畸形检出率与孕中期比较,孕晚期胎儿心脏畸形检出率与孕中期比较,孕早期胎儿心脏畸形检出率与孕晚期比较,差异有统计学意义（P＜0.05）。超声产前漏诊9例,漏诊率为3.31％。结论　近年佳木斯市胎儿心脏畸形发病率处于稳定,略有上升的趋势,胎儿心脏畸形的最佳检查时间为孕中期。     

Fetal ultrasound abnormalities: correlation with fetal karyotype, autopsy findings, and postnatal outcome--five-year prospective study.

A 5-year prospective prenatal study in 151 pregnancies with 152 malformed fetuses detected by ultrasound was evaluated cytogenetically. Thirty-five fetuses (23%) had abnormal karyotypes. Specific anatomical fetal malformations identified by ultrasound increase the risk for fetal chromosome abnormalities. Risks of abnormal chromosomes in the fetus are present with both single and multiple anomalies including amniotic fluid volume although the risk is increased with specific anatomical systems and multiple malformations. An abnormal fetal karyotype was present in 17% with a single anatomical abnormality and 30% when two or more anatomical systems were involved. Fetal hydrops, duodenal atresia, and omphalocele were the most specific single ultrasound anomalies; fetal hydrops, IUGR, holoprosencephaly, congenital heart disease, diaphragmatic hernia, duodenal atresia, and omphalocele were the most specific multiple anomalies with abnormal amniotic fluid volume. Termination of pregnancy occurred in 32/58 patients diagnosed prior to the 20th week of pregnancy with most (31/32) having a chromosomal anomaly or severe fetal anomaly. Fetuses terminated after the 20th week had chromosomal (7/18) or lethal fetal anomalies (11/18). The most common aneuploidies were trisomy 21, trisomy 18, and 45,X. The decision to terminate the pregnancy was based in most cases on the fetal ultrasound findings. Correlation of ultrasound and clinical findings is important for accurate genetic counselling.     

颈项透明层增厚胎儿的临床结局分析

目的 研究颈项透明层(NT)增厚胎儿的临床结局,探讨超声测量NT厚度在评估胎儿预后中的临床价值.方法 对11～13+6周,头臀径为45～84 mm的4081例胎儿常规进行NT的测量,NT≥2.5 mm视为增厚,随访观察NT增厚胎儿的临床结局.将NT厚度分为4组(A组:2.5～3.4mm,B组:3.5～4.4mm,C组:4.5～5.4mm及D组:5.5～6.4mm),不同NT厚度胎儿的临床结局的比较采用Ridit分析,并应用等级相关分析NT增厚与胎儿健康存活率的相关性.结果 超声共检出58例NT增厚胎儿,其中6例NT≥6.5 mm,均于早孕期行人工流产终止妊娠,余52例NT＜6.5 mn,其中4例染色体异常,10例染色体正常但合并畸形或遗传综合征,1例中孕早期停止发育,33例至出生未见异常,4例失访.不同NT厚度胎儿的临床结局差异有统计学意义(P＜0.05),随NT增厚程度的增加,胎儿健康存活率呈降低的趋势[A组:81.8%(27/33),B组:62.5%(5/8),C组:25%(1/4),D组:0%(0/3),r=-0.993,P＜0.05].结论 超声测量NT厚度对于临床早期评价胎儿的预后有重要参考价值.     

唐氏综合征的产前筛查和产前诊断

目的通过研究唐氏综合征胎儿的临床特点,探讨唐氏综合征的产前筛查和产前诊断方法。方法回顾性分析我院产科4年来42例经染色体诊断为唐氏综合征的病例临床资料。结果42例孕妇其中高龄产妇20例,单纯因高龄行染色体检查12例,超声诊断畸形3例,超声异常5例。年龄小于35岁22例,其中唐氏征筛查高危8例,超声异常2例,畸形10例,超声异常伴有唐氏征筛查高危1例,1例孕期无异常发现,分娩后证实。40例患者中6例继续妊娠者,1例拒绝随访,1例发生胎死宫内,3例存活并发生胎儿宫内发育受限,1例臀位分娩生后证实。结论高龄孕妇进行染色体检查是必要的,超声检查对于唐氏综合征的筛查具有重要的指导意义,NT增厚的患者积极建议进行产前诊断。对于胎儿可治疗的畸形要求继续妊娠者需要积极除外染色体疾病的风险。对于临床晚期出现的宫内发育受限的患者亦要高度警惕发生染色体异常的风险。     

系统超声检查与诊断胎儿畸形及其重要意义

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年～2008年共23955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。对终止妊娠的畸形胎儿均进行病理检查,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,均经病理检查证实。结论中孕期对胎儿进行系统的超声检查可对大多数胎儿主要畸形提供可靠的诊断信息。     

Dandy-Walker畸形的产前诊断和围产期处理

目的探讨Dandy-Walker畸形的产前诊断和围产期处理。方法回顾性分析5例Dandy-Walker畸形的临床资料。结果5例患者中3例进行染色体检查未发现异常。在患者知情同意下,3例患者引产,其中1例患者病理结果为脑发育畸形,2例存活病例随访智力发育无异常。结论Dandy-Walker诊断需慎重,条件允许的情况下建议进行染色体检查和超声监测,注意其他神经系统外畸形的发生,合并其他系统的畸形往往预后不良。     

First trimester ultrasonography in screening and detection of fetal anomalies

An obstetrical ultrasound examination provides invaluable information regarding the fetus. Until the mid-1980s, ultrasound in the first trimester was limited to localization of the pregnancy, establishing viability, and accurate dating. With the advent of high-resolution ultrasound and transvaginal scanning, a significant amount of information about the fetus can be gained and provided to the patient at a very early stage in gestation. This article provides an overview of the role of first trimester (11-13 + 6 weeks' gestation) ultrasound in screening and diagnosis of fetal anomalies. The first trimester is an ideal time for screening for aneuploidy, primarily due to the advantages that nuchal translucency (NT) measurement provides. NT measurement is also useful in establishing the risk of congenital cardiac disorders and a number of genetic and non-genetic syndromes. Significant NT thickening is associated with an increase in perinatal morbidity and mortality. Potential mechanisms resulting in increased NT are discussed. A number of new ultrasound markers for fetal aneuploidy have been investigated over the past several years, some of which appear to improve the screening efficacy of early ultrasonography. The role of these is reviewed. A number of fetal anomalies can now be consistently diagnosed in the first trimester. Their appearance at this early gestational age is discussed as well. It is clear that, data obtained by first trimester ultrasound are useful in counseling expectant parents and in planning the appropriate follow-up.