孤立性轻度侧脑室增宽胎儿的产前诊断及预后

目的：探讨孤立性轻度侧脑室增宽胎儿的产前诊断结果及临床预后,为临床咨询提供指导。方法：对61例超声诊断为孤立性轻度侧脑室增宽的胎儿,回顾性分析其产前诊断结果;随访其生后情况。结果：①61例产前诊断中,3例（4.92%）染色体核型异常,包括2例21-三体综合征和1例47,XXY;50例行脐血弓形虫、巨细胞病毒及风疹病毒-IgM检测,仅1例脐血风疹病毒-IgM阳性。定期随访的55例中,8例因各种因素终止妊娠,包括3例染色体核型异常和1例脐血风疹病毒-IgM阳性;47例活产儿中,1例生后发现多发畸形,1例新生儿期死亡,2例伴有生长发育障碍,43例（91.49%）生长发育正常。结论：对孤立性轻度侧脑室增宽胎儿,建议行产前诊断及感染项目检测,排除染色体异常和先天感染,绝大多数胎儿预后良好。     

脑室扩张胎儿的MRI诊断及预后

目的 探讨超声发现的脑室扩张胎儿行MRI检查的临床价值,并观察脑室扩张胎儿的预后.方法 选择2006年3月至2008年7月在中国医科大学附属盛京医院行超声检查发现有胎儿脑室扩张的孕妇135例,产前检查孕周平均为32周.为进一步明确诊断行MRI检查.MRI检查发现胎儿单侧或双侧侧脑室三角区宽度为10～15 mm者诊断为轻度脑室扩张,16～20 mm者诊断为中度脑室扩张,>20 mm者诊断为重度脑室扩张.采用病例对照研究方法,对MRI诊断为单纯轻度脑室扩张胎儿和无异常胎儿,在出生后半年至1年进行丹佛智能发育筛查量表(DDST)检测,以判断单纯轻度脑室扩张胎儿在婴幼儿期的智力及生长发育状况.结果 (1)MRI诊断胎儿脑室扩张的准确率:135例超声诊断的脑室扩张胎儿中,MRI检查无明显异常56例(41.5%,56/135),单纯脑室扩张60例(60/135,44.4%),脑室扩张合并脑出血5例(3.7%,5/135),脑室扩张合并胼胝体异常12例(8.9%,12/135),脑室扩张合并小脑发育不良2例(1.5%,2/135).MRI诊断胎儿脑室扩张共79例,其中合并胼胝体异常率为15.2%(12/79).(2)MRI检查胎儿脑室扩张的分度:MRI诊断胎儿单纯脑室扩张60例,其中55例(91.7%,55/60)为轻度脑室扩张,5例为中度脑室扩张(8.3%,5/60);脑室扩张合并脑出血的5例胎儿中,1例为轻度脑室扩张、4例为中、重度脑室扩张;脑室扩张合并胼胝体异常的12例胎儿中,8例(66.7%,8/12)为中度脑室扩张,4例为重度脑室扩张(33.3%,4/12);脑室扩张合并小脑发育不良的2例胎儿均为中度脑室扩张.(3)DDST检测结果:55例单纯轻度脑室扩张胎儿中,符合随访条件的30例为病例组.无异常的56例中随访到38例,同期因其他原因行MRI检查无异常的胎儿42例,共计80例为对照组.病例组婴儿中DDST检测结果为可疑或异常4例(13.3%,4/30),正常26例(86.7%,26/30);对照组婴儿中DDST检测结果为可疑或异常10例(12.5%,10/80),正常70例(87.5%,70/80).两组分别比较,差异均无统计学意义(P>0.05).(4)MRI检查确诊的79例单纯脑窜扩张胎儿的临床结局:79例脑室扩张胎儿中,30例轻度脑室扩张胎儿及5例中度脑室扩张胎儿均妊娠至足月,出生后随访未发现婴儿异常;另有7例拒绝合作,6例孕妇坚决要求引产,失访12例.合并胼胝体发育异常的12例胎儿中,3例继续妊娠,胎儿出生后复查MRI,其诊断结果与胎儿期的MRI检查结果相同;8例孕妇坚决要求引产,失访1例.合并脑出血的5例胎儿均按孕妇意愿选择引产,尸体检查结果均证实MRI诊断正确.合并小脑发育不良的2例胎儿,1例要求继续妊娠,足月分娩,生后半年婴儿确诊为脑瘫,另有1例引产.结论 对超声发现的脑室扩张胎儿进一步行MRI检查有重要的临床验证和补充诊断价值;胎儿单纯轻度脑室扩张在出生后6～12个月期间,智力及生长发育与同龄儿无异.     

B超检查胎儿肾脏回声增强的临床意义

目的探讨B超检查胎儿肾脏回声增强的临床意义。方法选择31例产前B超发现胎儿肾脏回声增强的患者,征求本人意见,对选择引产放弃胎儿者（12例）行引产后患儿尸体解剖;对选择继续妊娠者（19例）定期随访。分娩时取胎儿脐带血进行胎儿染色体分析。结果（1）31例中6例胎儿同时合并其他脏器异常,3例胎儿合并染色体异常,2例患者具有家族史。（2）12例选择终止妊娠者中,10例伴羊水过少;B超检查胎儿肾脏回声增强的原因分别为婴儿型多囊肾10例、成人型多囊肾1例和多囊性肾发育不良1例。（3）19例选择继续妊娠者中,2例羊水过少患儿于新生儿期死亡,病理解剖结果为婴儿型多囊肾;3例患儿分别在出生后1岁内死亡,病理诊断分别为婴儿型多囊肾或多囊性肾发育不良;1例患儿在出生后26个月出现高血压症状,肾功能异常,诊断为婴儿型多囊肾;4例患儿出生后B超检查肾脏回声转为正常;9例肾脏B超表现与产前检查相同,但目前没有任何临床症状。结论（1）胎儿期肾脏B超回声增强的原因多为婴儿型多囊肾、肾发育不良和非特异性肾病,也有部分为正常肾脏变异。（2）羊水量是判断胎儿预后的关键指标之一,当胎儿期肾脏回声增强伴羊水过少时提示胎儿预后不良。（3）当发现肾脏B超回声增强时,应仔细询问家族史,并对胎儿父母肾脏及胎儿其他部位进行详细检查,必要时建议进行胎儿染色体核型分析。     

胎儿肾脏实质回声增强的产前诊断结果与预后分析

目的:回顾性分析肾脏实质回声增强胎儿的遗传学病因、感染相关病因、影像学检查及预后等,以期建立准确的产前病因学诊断,向患者提供全面的遗传咨询、预后分析、风险评估及出生后的医疗指导等。方法:回顾性分析2015年1月至2021年12月,在广东省妇幼保健院超声诊断科进行超声检查结果提示为胎儿肾脏实质回声增强,并于本院产前诊断中心行介入性产前诊断的单胎妊娠病例,共62例,孤立性胎儿肾脏实质回声增强组14例,非孤立性胎儿实质回声增强组48例。分析其产前诊断结果和妊娠结局,以及截至2022年6月的新生儿或儿童随访结果。结果:62例胎儿肾脏实质回声增强的病例中,孤立性胎儿肾脏实质回声增强组共发现3例致病性染色体异常(21.4%,3/14),非孤立性胎儿肾脏实质回声增强组,共发现17例致病性染色体异常(35.4%,17/48),两组染色体异常率差异无统计学意义(χ²=0.971,P=0.325)。在染色体正常的病例中,有14例行全外显子家系测序检查(Trio-WES),其中4例检出致病性变异(28.6%,4/14)。染色体或基因异常的20个胎儿中,18例选择引产,2例17q12微缺...     

产前胎儿侧脑室扩张的临床意义及预后

目的 探讨产前超声发现胎儿侧脑室扩张的临床意义及预后. 方法 研究对象为2007年8月至2010年8月因超声发现侧脑室扩张于南方医科大学南方医院妇产科遗传咨询门诊就诊的92例单胎妊娠孕妇,根据胎儿侧脑室宽度分为重度侧脑室扩张(≥15.0 mm,4例)和轻度侧脑室扩张(10.0～14.9 mm,88例),轻度侧脑室扩张组又分为A组(10.0～12.0 mm,50例)和B组(12.1～14.9 mm,38例).对相关临床资料进行回顾性分析,对宫内转归、新生儿出生后神经行为发育情况进行随访.统计方法采用x2检验(或Fisher精确概率法)、Bonfferoni方法校正、MannWhitney和Kruskal-Wallis检验. 结果 轻度侧脑室扩张的A和B组及重度侧脑室扩张组胎儿合并其他系统发育异常(非孤立性侧脑室扩张)的发生率分别为18.0％(9/50),65.8％(25/38)和3/4(x2＝22.934,P=0.000),A、B两组比较差异有统计学意义(x2＝20.798,P=0.000);胎儿合并染色体异常的发生率分别为4.0％(2/50),7.9％(3/38)和0/4(x2 =0.878,P=0.645).4例重度侧脑室扩张病例均终止妊娠,轻度侧脑室扩张病例继续妊娠的63例胎儿中(A和B组分别为48例和15例),B组官内转归较A组差(B组侧脑室扩张进展、稳定和缩小者分别为3、10和2例,A组分别为3、15和30例,Z=-3.317,P=0.001),A组中非孤立性侧脑室扩张胎儿宫内预后较孤立性侧脑室扩张者差(Z=-2.631,P=0.009).顺利娩出的62例新生儿在生后14d进行新生儿神经行为发育情况评估,A、B两组≥35分比例分别为93.8％(45/48)和71.4％(10/14),差异有统计学意义(Fisher精确概率法,P=0.040).婴儿出生后12个月(存活46例,A组35例,B组11例)采用贝利婴幼儿发展量表(Bayley scales of infant development,BSID)评估,评分显示A和B组运动发育指数差异有统计学意义(A组发育优秀、中等和低下者分别为8、26和1例,B组分别为1、7和3例,Z=-2.203,P＝0.043),但智力发育指数评分2组间差异无统计学意义.存活婴儿中20例行磁共振成像(magnetic resonance imaging,MRI)检查,45.0％(9例)侧脑室宽度缩小,50.0％(10例)侧脑室扩张持续存在,5.0％(1例)侧脑室扩张宽度增加.生后侧脑室扩张转归情况与BSID评分相关,侧脑室宽度缩小者较稳定和进展者预后好(P=0.033). 结论 胎儿侧脑室扩张宽度为10.0～12.0 mm者预后较好.超声确诊的侧脑室扩张胎儿,建议进行相关病因学检查,必要时行MRI检查.对侧脑室轻度扩张胎儿应加强宫内及出生后随访.     

112例胎儿侧脑室扩张的产前诊断与随访结果分析

目的:探讨胎儿侧脑室扩张(VM)的临床特征、病因及预后,为临床咨询提供参考。方法:将2000年11月至2019年9月于北京大学深圳医院就诊且行产前诊断穿刺的112例胎儿VM分别分为单侧组(64例)和双侧组(48例),轻度组(58例)、中度组(31例)和重度组(23例),孤立性侧脑室扩张组(IVM组,56例)和非孤立性侧脑室扩张组(NIVM组,56例),收集胎儿超声、染色体检查和出生后随访资料,比较染色体异常发生率和出生后随访结果。结果:轻度组、中度组、重度组中合并其他颅内异常者分别有9例(15.5%)、9例(29.0%)和12例(52.2%),重度组合并其他颅内异常率显著高于轻度组(P0.05)。染色体异常11例(9.8%),其中3例为染色体非整倍体,8例为染色体拷贝数变异(CNVs)。核型正常的病例中11.4%(5/44)合并致病性CNVs;单侧组、双侧组染色体异常率(分别为7.8%、12.5%)无统计学差异(P0.05);两两比较轻度组、中度组和重度组染色体异常率(分别为10.3%、12.9%、4.3%)均无统计学差异(P0.05);IVM组和NIVM组的染色体异常率无统计学差异(7.1%vs 12.5%,P0.05)。112例有79例选择分娩,随访成功72例,随访结果异常9例(12.5%),包括语言发育迟缓4例,重度运动发育迟缓伴新生儿死亡2例,轻度运动发育迟缓2例,轻度运动发育迟缓伴语言发育迟缓1例。轻度组、中度组和重度组分别有6.7%、10.0%和57.1%随访结果异常,重度组的随访结果异常率大于轻度组、中度组(P0.05),轻度组与中度组比较无统计学差异(P0.05)。轻度组、重度组随访异常的病例均为NIVM。结论:重度VM更易合并其他颅内异常,VM可以伴有多种致病性CNVs,建议对VM均进行染色体核型及染色体微阵列检查;轻度、中度孤立性VM的预后均较好,重度VM不管是否合并其他异常,预后均较差。     

胎儿肾盂扩张的产前诊断及转归

目的 研究不同程度胎儿肾盂扩张的产前诊断及其临床转归,为产前遗传咨询提供依据.方法 对孕妇作产前超声检查,发现胎儿肾盂扩张时,测量肾盂前后径(APD),按肾盂APD值分别纳入轻度、中度、重度肾盂扩张组,并进行监测和随访,部分胎儿作染色体核型检测.结果 128例胎儿存在肾盂扩张,引产胎儿28例,24例合并胎儿畸形,7例存在染色体异常.继续妊娠的100例胎儿中,有155侧肾盂扩张,轻度组86侧肾盂扩张,自行消失83侧,占96.5%(83/86).中度组39侧肾盂扩张,自行消失24侧,占61.5%(24/39);生后手术治疗8侧,占20.5%(8/39).重度组30侧肾盂扩张,自行消失1侧,占3.3%(1/30),生后手术治疗22侧,占73.3 %(22/30).肾盂扩张自行消失率随扩张程度的加重而下降(x2=88.730,P<0.01);出牛后患儿手术率与产前胎儿肾盂扩张的程度呈正相关(x2=2.045,P<0.01).69例胎儿行染色体核型检测,7例异常,占10.1%.结论 胎儿单纯的轻、中度肾盂扩张多数可自行消失,若合并其他器官异常,则染色体异常的风险增大;中重度肾盂扩张者,易合并泌尿系或其他器官异常.     

胎儿淋巴水囊瘤与染色体异常的相关性研究及妊娠结局分析

目的:探讨胎儿颈部淋巴水囊瘤(CCH)与染色体异常的相关性,以及早孕期CCH胎儿的妊娠结局。方法:选取2012年1月1日至2016年6月1日在广州医科大学附属第三医院胎儿医学科门诊行早孕期NT筛查发现CCH的胎儿160例。孕妇均行产前诊断,对染色体及基因芯片结果未见异常的胎儿,建议孕妇于妊娠20～24周接受详细的胎儿III级排畸超声筛查。新生儿随访时间为出生后2～25个月。结果:160例行遗传学诊断的早孕期CCH样本中,染色体核型分析44例,行高分辨CMA分析116例。染色体异常82例,其中最常见的染色体异常为Turner's综合征(31例,33.7%),其次为18三体(24例,26.1%)、21三体(17例,18.5%),13三体7例,染色体平衡易位2例,染色体嵌合1例。基因芯片异常10例,其中6例致病性拷贝数异常。染色体及芯片未见异常的68例中,除10例死胎外,发现超声结构异常18例。染色体、芯片及超声均未见异常且选择继续妊娠的病例中,活产率为98%。截止随访日,活产胎儿暂未发现明显异常。胎儿心脏异常尤其是室间隔缺损在非染色体异常病例中的发生率较高。26例双胎中,约57.7%发现明显染色体异常,染色体检查、芯片及超声检查均未见异常的病例中,选择继续妊娠的4例双胎均活产健康。结论:对于早孕期CCH的预后,需排除常见的染色体异常及致病性拷贝数变异,同时还需结合胎儿排畸超声情况综合判断。如均未见明显异常,且后期未发生胎儿水肿的孤立性淋巴水囊瘤的胎儿出生后预后良好。     

孤立性轻度侧脑室增宽胎儿的产前诊断及预后分析

目的:研究孤立性轻度侧脑室增宽(i MVM)胎儿与染色体异常、先天性宫内感染及不良妊娠结局的关系。方法:回顾性分析我院2009年1月至2013年12月i MVM胎儿143例的产前诊断情况及妊娠结局。结果:143例i MVM胎儿中共有48例(33.57%)同意产前诊断,行胎儿染色体核型及TORCH-Ig M检查,发现1例(2.08%)染色体异常,为47,XX,+21;2例(4.17%)胎儿分别合并巨细胞病毒和弓形体感染。89例(62.24%)有追踪随访结果,其中1例21-三体终止妊娠,3例孕妇主动选择终止妊娠,2例分别合并继发性耳聋和语言发育障碍,其余83例(93.26%)在出生后0~4年内智力及生长发育正常;在i MVM的胎儿中男女比例为2.07∶1。结论:排除i MVM胎儿的染色体异常及先天性宫内感染后,此类胎儿的预后良好,而且男胎发病率远远高于女胎。     

胎儿侧脑室增宽的临床认识和处理

脑室增宽(ventriculomegaly,VM)是指脑脊液过多地积聚于脑室系统内,致使脑室系统扩张,其中侧脑室增宽最为常见。明显的侧脑室扩张与围生期胎儿发病率和病死率有密切关系;轻度的侧脑室扩张,常可伴有其他结构异常或染色体核型异常。因此,产前发现并诊断胎儿脑室增宽具有重要意义。1超声对胎儿脑室增宽的评价及诊断标准脑室系统包括侧脑室、第三脑室、中脑导水管、第四脑室。产前超声检查中,侧脑室最容易观察,其宽度及形态检查是产前系统超声检查中的重要内容,而单纯第三脑室及第四脑室增宽罕见,不是本文讨论的重点。侧脑室房部宽度是侧脑室增…     

Third-trimester fetal MRI in isolated 10- to 12-mm ventriculomegaly: is it worth it?

OBJECTIVE: The justification for magnetic resonance imaging (MRI) in isolated mild ventriculomegaly remains controversial. This study was undertaken to evaluate the contribution of third-trimester MRI in isolated 10- to 12-mm fetal ventriculomegaly. DESIGN: Observational prospective cohort study. SETTING: Universitary prenatal reference centre. POPULATION: From February 2000 to May 2005, we prospectively collected data concerning fetuses referred to us for cerebral MRI following detection of ventriculomegaly by ultrasound scan (n= 310). METHODS: Among these, we identified and analysed those cases in which ventriculomegaly was isolated and did not exceed 12 mm in ultrasound examinations prior to MRI scan (n= 185). MAIN OUTCOME MEASURE: Cases in which MRI provided additional information that was likely to have an impact on prenatal management were detailed. RESULTS: During the study period, 310 MRI were performed because of fetal ventriculomegaly. Hundred and eighty-five were suspected to be isolated 10- to 12-mm ventriculomegalies in ultrasound scan and formed our database. MRI confirmed the 10- to 12-mm isolated fetal ventriculomegaly in 106 cases (57.3%) and found other abnormalities in 5 (4.7%) of these 106 cases. MRI found ventricular measurement to be less than 10 mm in 43 cases (23.3%) and more than 12 mm in 36 cases (19.4%). Among these 36 fetuses with ventricle size more than 12 mm, 6 (16.7%) had other abnormalities, whereas MRI did not find other abnormalities in the 43 cases with ventricle size below 10 mm. CONCLUSION: Before advantages of MRI to ultrasound examination can be demonstrated, it seems reasonable that MRI should remain an investigational tool, restricted to selected clinical situations in which the results are expected to modify case management. Where ultrasound scan suspects isolated ventriculomegaly of 10 to 12 mm, our data suggest that when the finding is confirmed with MRI this could be expected in around 5% of cases. Therefore, the policy of routine MRI in such cases should depend on prenatal centres' priorities.     

Obstetric and neonatal outcomes in severe fetal ventriculomegaly

OBJECTIVE: To determine the early outcome and the incidence of associated structural anomalies in pregnancies complicated by severe fetal ventriculomegaly (VM). METHODS: A review of cases of severe fetal VM (posterior horn of lateral ventricle > 15 mm at referral or during prenatal follow-up) referred to a fetal medicine centre in Eastern England over 4 years from 2001 was made. Results of specialist prenatal investigations including ultrasound (US), karyotype, antiplatelet antibodies and congenital infection screen were noted. Neonatal clinical and cranial US findings, autopsy findings and neurodevelopmental follow-up at 4 months were obtained. RESULTS: Twenty cases of severe VM were identified, including 3 with spina bifida. Median gestation at diagnosis was 28 weeks (range 16-36 weeks). Twelve cases had additional intra-cranial abnormalities and two had abnormalities outside the central nervous system. One case was complicated by toxoplasmosis. There was one case of trisomy 21. Ten pregnancies were terminated. Ten babies were live born, all of whom had VM confirmed, and two of these babies died within 4 months. Of the remaining eight, seven have abnormal neurodevelopment. CONCLUSIONS: Severe VM is often diagnosed after the threshold of viability. Termination of pregnancy was requested in about half the cases owing to the risk of long-term neurodisability, and in all cases diagnosed before 24 weeks. In those live born, there was abnormal outcome in all but one.     

The role of ultrasonography in recognizing the cause of fetal cerebral ventriculomegaly

Dilatation of the fetal cerebral ventricles (ventriculomegaly) is a generic sonographic sign common to several pathological entities carrying different prognoses. The main causes of fetal ventriculomegaly are aqueductal stenosis, Chiari II malformation, Dandy-Walker complex and agenesis of the corpus callosum. Ventriculomegaly is easily recognized by ultrasound by measuring the atrial width. This simple measure allows the recognition of mild forms of ventricular dilatation and is used as a screening method for ventriculomegaly. However, although the diagnosis of ventriculomegaly is easy, the prenatal identification of the cause of ventricular dilatation is a more difficult task. To this end, the evaluation of the posterior fossa in association with the visualization of the corpus callosum is a useful landmark. Research into the cause of ventriculomegaly is clinically useful, since the prognosis mainly depends on the etiology and on the presence of associated anomalies. In this article the role of prenatal sonography in recognizing the cause of ventriculomegaly and the prognostic value of the prenatal sonographic findings are discussed.     

Aneuploidy and isolated mild ventriculomegaly. Attributable risk for isolated fetal marker

BACKGROUND: Does the prenatal ascertainment of isolated mild ventriculomegaly increase the a priori risk for aneuploidy when isolated or not associated with advanced maternal age? Does isolated mild ventriculomegaly increase the risk for pediatric developmental delay? METHODS: The Wayne State University (WSU) Reproductive Genetics abnormal case data base and the Madigan Army Medical Center (MAMC) experience were reviewed to compare the rates of aneuploidy for cases with fetal ventriculomegaly. Cases were classified by maternal age and associated sonographic markers of aneuploidy. Aneuploidy rates were compared between the isolated ventriculomegaly, ventriculomegaly with advanced maternal age (AMA), and ventriculomegaly associated with multiple anomalies. Rates of aneuploidy were compared to identify association. RESULTS: A total of 118 cases with ventriculomegaly were identified for comparison. Ninety-four cases were identified in the WSU cohort; 46 demonstrated isolated ventriculomegaly alone, and aneuploidy was present in 3/25 (12%) with invasive fetal testing, 0/24 (0%) cases in the MAMC cohort demonstrated aneuploidy. Isolated mild ventriculomegaly cases at MAMC were identified for further tests. DISCUSSION: Although the two study populations vary in age and risk distributions, the attributable risk for isolated mild ventriculomegaly poses a counseling conundrum due to the neurodevelopmental implication of this minor dysmorphism more so than its association with aneuploidy.     

Sonographic diagnosis of fetal cerebral ventriculomegaly: an update.

Dilatation of the fetal cerebral ventricles (ventriculomegaly) is a generic sonographic sign that is common to several pathological entities carrying different prognoses. The main causes of fetal ventriculomegaly are aqueductal stenosis, Chiari II malformation, Dandy-Walker complex, and agenesis of the corpus callosum. Ventriculomegaly is easily recognized by ultrasound by measuring the atrial width. This simple measure allows the recognition of mild forms of ventricular dilatation and is used in screening for ventriculomegaly. However, although the diagnosis of ventriculomegaly is easy, the prenatal identification of the cause of ventricular dilatation is a more difficult task. For this purpose the evaluation of the posterior fossa in association with the visualization of the corpus callosum is useful. Research into the causes of ventriculomegaly is clinically useful, since the prognosis mainly depends on the etiology and on the presence of associated abnormalities. In this article the role of prenatal sonography in determining the cause of the ventriculomegaly is reviewed, as well as the prognostic value of the prenatal sonographic findings.     

Sonographic diagnosis of fetal cerebral ventriculomegaly: An update

Dilatation of the fetal cerebral ventricles (ventriculomegaly) is a generic sonographic sign that is common to several pathological entities carrying different prognoses. The main causes of fetal ventriculomegaly are aqueductal stenosis, Chiari II malformation, Dandy–Walker complex, and agenesis of the corpus callosum.

Ventriculomegaly is easily recognized by ultrasound by measuring the atrial width. This simple measure allows the recognition of mild forms of ventricular dilatation and is used in screening for ventriculomegaly. However, although the diagnosis of ventriculomegaly is easy, the prenatal identification of the cause of ventricular dilatation is a more difficult task. For this purpose the evaluation of the posterior fossa in association with the visualization of the corpus callosum is useful. Research into the causes of ventriculomegaly is clinically useful, since the prognosis mainly depends on the etiology and on the presence of associated abnormalities.

In this article the role of prenatal sonography in determining the cause of the ventriculomegaly is reviewed, as well as the prognostic value of the prenatal sonographic findings.     

Fetal lateral cerebral ventriculomegaly: associated malformations and chromosomal defects

In 267 consecutive cases of fetal lateral cerebral ventriculomegaly, additional fetal malformations were detected by ultrasonography in 209 (78%) of the cases. On the basis of the ultrasound findings, the patients were subdivided into three groups: (i) isolated ventriculomegaly (n = 58), (ii) ventriculomegaly and open spina bifida only (n = 172), and (iii) ventriculomegaly and other malformations (n = 37) with or without spina bifida. Antenatal karyotyping was performed in 64 cases from groups (i) and (iii), and 11 (18%) of the fetuses had chromosomal abnormalities. The incidence of chromosomal abnormalities was strongly related to the presence of multisystem malformations. Thus, only 3% of fetuses with isolated ventriculomegaly as opposed to 36% of those with additional malformations had chromosomal defects. Furthermore, the degree of ventriculomegaly in the chromosomally abnormal fetuses was relatively mild. In the chromosomally normal fetuses, mild, static ventriculomegaly was associated with apparently normal subsequent mental development.     

Correlation of prenatal ultrasound diagnosis and pathologic findings in fetuses with trisomy 13

OBJECTIVES: This study was conducted to compare the prenatal ultrasound findings and postmortem pathologic findings of fetuses with trisomy 13. METHODS: Of 22 150 fetal chromosome analyses, 28 fetuses with trisomy 13 were diagnosed between 1990 and 2004. Findings of second-trimester sonography and subsequent fetal autopsy were compared by organ system, and their correlation was assigned to one of three categories based on the degree of agreement. RESULTS: Of the total of 79 abnormalities that were found on autopsy, prenatal sonography showed 48 (60.8%). The agreement was more than 75% of all abnormalities of these systems: central nervous system (CNS) (76.5%), facial abnormalities (76.5%), urinary system (81.8%) and fetal hydrops (100%), whereas the sensitivity of sonography was lower in these organ systems: heart (53.3%), extremities (12.5%) and abdominal abnormalities (33.3%). In 39.2% of the cases, autopsy findings were not detected by sonography. These additional findings at autopsy involved mainly three organ systems: heart, face and extremities. Some ultrasound findings (n = 17) were not verified at autopsy; most of them were quantitative markers (mild ventriculomegaly, mild pyelectasis). CONCLUSION: Our results indicate that thorough sonographic examination of the fetal face (including ears) and extremities (including hands and feet) with an extensive use of fetal echocardiography may increase the sensitivity of prenatal sonography in detecting trisomy 13.     

Diagnóstico ecográfico de la ventriculomegalia fetal. Seguimiento posnatal

Objetives

To determine the prevalence of fetal ventriculomegaly and identify the neurological outcomes of newborns with a prenatal diagnosis.

Method

Observational study of ventriculomegaly prenatally diagnosed by ultrasound in our department between 2004 and 2012.

Results

We diagnosed 61 cases of ventriculomegaly. The prevalence rate was 2.25 per 1,000. Diagnosis was made during the second trimester in 54 patients and during the third trimester in 7. Bilateral ventriculomegaly was found in 91% of the fetuses. Ventriculomegaly was mild (10-12 mm) in 79.4% and moderate (12-15 mm) in 5.6%. Severe ventriculomegaly (>15 mm) or hydrocephalus was diagnosed in 15% of the fetuses. The clinical course during pregnancy was unfavorable in 13%. Associated anomalies were diagnosed in 23 cases.

Conclusions

Mild, isolated and non-progressive ventriculomegaly has the best neurological prognosis.