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.     

磁共振检查在脑室扩张胎儿产前诊断中的作用

目的:探讨磁共振成像(MRI)在超声提示脑室扩张胎儿产前诊断中的作用。方法:选择因超声提示单纯性脑室扩张而行MRI检查者,对MRI结果进行分析并随访妊娠结局。结果:1 MRI结果的准确性:入组病例MRI对超声的总补充诊断率为15.4%(38/247),其中脑积水11例,脑室扩张伴脑出血3例,脑室扩张伴胼胝体发育不全(ACC)9例,室管膜下囊肿(或蛛网膜囊肿)9例,DandyWalker等其他类型畸形6例。2胎儿脑室扩张的宫内转归及新生儿预后:63.2%(24/38)有结构畸形者选择引产,均未见染色体核型异常。正常分娩新生儿155例,新生儿随访无异常神经系统表现。结论:对于脑室扩张,尤其是重度脑室扩张,MRI对于超声有极高的补充诊断价值。     

孕中期胎儿心脏单纯肺动脉主干增宽在产前超声筛查胎儿CHD中的诊断与鉴别诊断价值

目的评价孕中期胎儿单纯肺动脉主干增宽在产前超声筛查胎儿CHD中的诊断与鉴别诊断价值,提高胎儿CHD的产前诊断率,改善预后。方法 2017年12月至2019年11月山西省泽州县人民医院对31例18～24周行胎儿畸形筛查时以MPA/AO 1.2为诊断标准,仅表现为肺动脉主干增宽的胎儿,后期进一步超声复查及随访评价肺动脉主干及左右肺动脉内径、血流速度;肺动脉瓣的回声及启闭运动,明确是否合并胎儿CHD及病变类型,所有胎儿超声复查及随访至新生儿超声心动图检查或引产后尸解。结果超声复查及随访的31例胎儿肺动脉主干增宽(MPA/AO1.2)的病例中, 3例为肺动脉瓣重度狭窄伴狭窄后肺动脉主干扩张; 1例为先天性肺动脉瓣缺如(congenital absence of the pulmonary valve)伴瓣后主肺动脉及左右肺动脉扩张;1例为特发性肺动脉扩张(idiopathic dilatation of pul-monary artery);1例为特发性肺动脉高压。其中先天性肺动脉瓣缺如合并Down(21三体)综合征染色体畸形。余25例中未发现明确心脏畸形。结论肺动脉增宽是多种先天性心脏病的表现形式,孕中早期仅表现肺动脉主干增宽,随孕龄增大,通过对胎儿肺动脉瓣回声及启闭运动、肺动脉峰值流速等逐渐显现的病理性超声表现,产前容易明确诊断胎儿CHD,其中肺动脉重度狭窄、先天性肺动脉瓣缺如、肺动脉重度高压或合并染色体异常是终止妊娠的指征。     

超声对胎儿颅内囊性改变的诊断价值

目的:探讨超声对胎儿颅内囊性改变诊断中的应用价值。方法:收集在本院超声检查中疑似为胎儿颅内囊性改变的92例患者的资料,以核磁共振成像(MRI)检查结果或引产后尸体解剖确诊,并与新生儿头颅超声结果对照。结果:92例胎儿颅内囊性改变的患者中,超声正确诊断单纯性脑室轻度扩张47例,脑积水7例,室管膜下囊肿6例,颅后窝池增宽7例,脉络膜囊肿6例,蛛网膜囊肿3例,胼胝体缺失8例,Dandy-Walker畸形2例,颅内出血1例,脑穿通畸形1例。结论:超声检查是诊断胎儿颅内囊性改变较直观、可靠的影像学方法。     

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.     

产前超声检查诊断胎儿颅脑积液的临床研究

目的 探讨产前超声检查诊断胎儿颅脑积液的变化及其临床意义.方法 对2004年7月至2005年6月在我院就诊的妊娠20周以上的8426例孕妇行常规产前超声检查,发现胎儿颅脑积液超过5 mm者纳入研究对象.对纳入研究的孕妇每2周1次行动态超声检查胎儿颅脑积液变化和其他异常情况,直至足月分娩,记录围产儿结局并定期随访.结果 8426例孕妇中,共有150例胎儿发生颅脑积液,发生率为1.8%.其中单侧侧脑室前角或后角积液72例,颅后窝积液46例,2个以上脑室积液32例.发现颅脑积液的最早孕周为17周(2例,外院转入),最迟为40周(1例),平均为(26±5)周.胎儿颅脑积液主要发生在孕29～32周[63例,42.0%(63/150)],胎儿颅脑积液量最多也发生在孕29～32周[70例,46.7%(70/150)].孕期胎儿颅脑积液自行消退111例(74.0%,111/150),积液开始消退的孕周为29～40周,平均(36±2)周,以孕29～32周和33～36周为消退最多的两个时段.颅脑积液最大积液量＜10 mm者26例,10～14 mm者78例,≥15 mm 46例,其不良围产结局发生率分别是3.8%(1/26),10.2%(8/78)和67.4%(31/46);2个以上脑室积液者不良围产结局的发生率为60.0%.结论 胎儿颅脑积液主要发生在孕29～32周,同时也是积液量高峰时期.积液量≥15 mm,或2个以上脑室积液者,其不良围产结局的发生率高,应引起高度重视.对单部位胎儿颅脑积液、积液量＜15 mm者可进行定期随访与观察.     

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…     

超声监测围产期胎儿、新生儿脑损伤及颅内出血的研究

目的　早期诊断围产期缺血缺氧所造成的脑损伤及颅内出血。　方法　对 1987年 4月至 1999年 4月间在我院出生的高危新生儿 880例用高分辨力超声仪行颅脑检查 ,对高危妊娠患者产前超声检查时着重观察胎儿颅内结构。　结果　发现异常者 36 5例 (4 1.5 % ) ,其中缺血缺氧性脑病(包括脑水肿 ,脑室周围回声增强 ) 110例 ,颅内出血 2 33例 (其中 6例是在产前检查时发现胎儿颅内出血 ,生后进一步证实 ) ,脑积水 7例 (2例在宫内诊断 ) ,先天性胼胝体发育不良 2例 (1例宫内诊断 ) ,脑肿瘤 1例 ,其他 12例。颅内出血在小于胎龄儿及有妊娠合并症的新生儿中发病明显增高。　结论　常规对高危胎儿及新生儿行颅脑超声检查有利于早期诊断、恰当处理及估计预后     

侧脑室扩张胎儿产前诊断及临床预后

目的 探讨侧脑室扩张胎儿的产前诊断及预后,为产前咨询及临床处理提供依据。方法 回顾性分析2017年1月至2020年12月在南方医科大学南方医院妇产科行产前超声提示胎儿侧脑室扩张,并行介入性产前诊断的孕妇223例。根据首次超声检查的侧脑室宽度分为轻度组（10～11.9 mm）、中度组（12～14.9 mm）、重度组（≥15 mm）。根据首次超声诊断胎儿侧脑室扩张时的孕周分为中孕早期（孕18～23+6周）、中孕晚期（孕24～27+6周）、孕晚期（≥28周）。根据是否合并其他异常,分为孤立性侧脑室扩张组和非孤立性侧脑室扩张组,根据累及的侧脑室分为单侧侧脑室扩张组和双侧侧脑室扩张组。根据上述不同分组分析胎儿侧脑室扩张病例的染色体核型、基因芯片结果及妊娠结局。结果 173例纳入病例中,29例（29/173）染色体结果异常,轻度组染色体异常率为12.15%,中重度组为24.24%,差异有统计学意义（P=0.039）。162例（162/173）随访患者中122例分娩,40例引产。经Logistic回归分析,初诊孕周、侧脑室宽度及超声提示其他结构异常等因素对分娩结局有影响,差异有统计学意义（P<...     

产前超声诊断胎儿肾缺如的临床意义

目的:探讨产前超声诊断胎儿肾缺如的临床意义.方法:回顾性分析2015年1月至2018年12月在本院超声医学科行产前超声检查中发现的114例胎儿肾缺如合并心内外畸形情况及妊娠结局.结果:①在同期产检的宫内单活胎中,检出肾缺如共114例,其中左肾缺如53例,右肾缺如49例,双肾缺如12例;②所有肾缺如胎儿中合并心内畸形12...     

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.     

Outcome of prenatally diagnosed agenesis of the corpus callosum

OBJECTIVE: To investigate the natural history, associated abnormalities and outcome in fetuses diagnosed prenatally with agenesis of the corpus callosum (ACC). METHODS: A retrospective study of all cases of prenatally detected ACC was performed in patients referred to two tertiary units between January 1993 and October 2003. Associated abnormalities, pregnancy outcome and infant follow-up were recorded. RESULTS: ACC was diagnosed in 117 cases. In 82 (70%) cases this was associated with other fetal structural (n = 49) or chromosomal abnormalities (n = 33). ACC was classified as an isolated prenatal finding in 35 (30%) cases. Assuming normal development in all cases lost to follow-up, significant developmental delay was present in 36% (95% CI, 15-65%) of isolated ACC. Furthermore, developmental delay was present in all cases with ventriculomegaly of at least 15 mm and in one of four cases with ventricular measurements less than 15 mm. CONCLUSIONS: The outcome of prenatally detected ACC is mainly dependent on the presence or absence of associated anomalies. The full assessment of fetal ACC mandates karyotyping, MRI and a search for more subtle ultrasound features of certain genetic syndromes. In this series, at least 36% (95% CI, 15-65%) of cases with isolated ACC exhibited significant developmental delay when assessed postnatally.     

Apert syndrome: what prenatal radiographic findings should prompt its consideration?

Apert syndrome was diagnosed in a newborn with typical facial and digital features whose only detected prenatal abnormality had been agenesis of the corpus callosum. This prompted a review of the central nervous system findings in all cases of Apert syndrome treated at the Craniofacial Center Boston Children's Hospital between 1978 and 2004. Two of 30 patients with Apert syndrome had prenatal identification of mild dilatation of the lateral cerebral ventricles and complete agenesis of the corpus callosum (ACC) documented with both ultrasound and MRI. Both had the common S252W mutation of FGFR2. Though cranial and orbital malformations typical of Apert were eventually seen in these fetuses in the third-trimester, even in retrospect, these were not detectable at mid second-trimester, ultrasound screening for congenital malformations. Hand malformations also went undetected in the second-trimester despite extensive imaging by experienced radiologists. We conclude that prenatal ultrasonographic identification of mild ventriculomegaly or ACC should stimulate a careful search for features of Apert syndrome and prompt follow-up imaging to look for bony abnormalities that have later onset. Prenatal molecular testing for Apert mutations should be considered in cases of mild ventriculomegaly and ACC.     

Should isolated fetal ventriculomegaly measured below 12 mm be viewed as a variant of the norm? Results of a 5-year experience in a prenatal referral center

Background: Fetal ventriculomegaly (VM) is defined as lateral ventricles measured above 10?mm. Some authors believe VM <12?mm are variants of the norm and need not be addressed for referral ultrasound.

Methods: A retrospective continuous cohort study of 127 confirmed fetal VM was divided into three groups after initial referral sonographic assessment: isolated VM <12?mm (group A), isolated VM ≥12?mm (group B), and VM associated with other malformations (group C). We reviewed obstetric outcome and neonate evolution after 1 month with the aim of defining a pertinent prenatal workup.

Results: We reported fetal infections in all groups (p?=?.24) and chromosomal abnormalities only in group C (p?=?.41). Fetal magnetic resonance imaging (MRI) found initially undiagnosed brain abnormalities in groups B and C (12.5 and 14.1%, p?p?Conclusions: Our results are in favor of a systematic referral ultrasound for every fetal VM, regardless of size, as soon as definition criterion is met. Additional paraclinical assessment (maternal serologic status for toxoplasmosis and cytomegalovirus, amniocentesis, fetal cerebral MRI) should be discussed depending on the situation.     

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 degree of antenatal ventriculomegaly is related to pediatric neurological morbidity

OBJECTIVE: Our hypothesis was that the degree of antenatally diagnosed cerebral ventriculomegaly is related to aneuploidy, perinatal mortality and long-term neurological morbidity. METHODS: Ninety-one cases of ventriculomegaly identified from 1 June 1994 to 1 July 1999 were examined for prenatal, intrapartum and neonatal complications. Pediatric follow-up was reviewed for infants with ventriculomegaly from birth up to as long as 4 years. Minor neurological morbidity was defined as a score of 70-80 on the clinical adaptive test/clinical linguistic and auditory milestone scale and included mild motor or language delay. Major morbidity included a score of < 70, evidence of cerebral palsy, or seizure disorder. The incidence of neurological complications was compared, on the basis of the degree of ventriculomegaly, with group 1 being > 10-15 mm and group 2 being > 15 mm. RESULTS: Twenty-seven cases (18 with neural tube defects and nine with holoprosencephaly) were excluded. Among the remaining 64 patients, 39 had a ventricular diameter of > 10-15 mm and comprised group 1. Five of the 39 cases (12.8%), all with other ultrasound anomalies, elected to terminate. The incidence of aneuploidy in group 1 was 14.2%. Among the 19 cases with isolated ventriculomegaly, 17 (89%) were normal and two (11%) had minor neurological morbidity. In group 1 there were two cases associated with cytomegalovirus (CMV) infection. Of the 25 cases in group 2, eight (32%), all with other ultrasound anomalies, elected to terminate. The incidence of aneuploidy in group 2 was 17.4%. For the nine cases with isolated ventriculomegaly of > 15 mm, one (11%) was normal (p < 0.001), five (56%) had minor neurological morbidity requiring a ventriculoperitoneal shunt (p = 0.035), and three (33%) had major neurological morbidity (p = 0.045) when compared to cases of isolated ventriculomegaly in group 1. There was one case of CMV infection in group 2. All perinatal deaths in both groups were associated with other anomalies. CONCLUSIONS: Amniocentesis to determine karyotype and the presence of CMV is warranted for all cases of ventriculomegaly of > 10 mm. The degree of antenatal ventriculomegaly is related to pediatric neurological morbidity and, when it is > 15 mm, it is associated with an increase in abnormal neurological development.     

The degree of antenatal ventriculomegaly is related to pediatric neurological morbidity

Objective: Our hypothesis was that the degree of antenatally diagnosed cerebral ventriculomegaly is related to aneuploidy, perinatal mortality and long-term neurological morbidity. Methods: Ninety-one cases of ventriculomegaly identified from 1 June 1994 to 1 July 1999 were examined for prenatal, intrapartum and neonatal complications. Pediatric follow-up was reviewed for infants with ventriculomegaly from birth up to as long as 4 years. Minor neurological morbidity was defined as a score of 70-80 on the clinical adaptive test/clinical linguistic and auditory milestone scale and included mild motor or language delay. Major morbidity included a score of < 70, evidence of cerebral palsy, or seizure disorder. The incidence of neurological complications was compared, on the basis of the degree of ventriculomegaly, with group 1 being > 10-15 mm and group 2 being > 15 mm. Results: Twenty-seven cases (18 with neural tube defects and nine with holoprosencephaly) were excluded. Among the remaining 64 patients, 39 had a ventricular diameter of > 10-15 mm and comprised group 1. Five of the 39 cases (12.8%), all with other ultrasound anomalies, elected to terminate. The incidence of aneuploidy in group 1 was 14.2%. Among the 19 cases with isolated ventriculomegaly, 17 (89%) were normal and two (11%) had minor neurological morbidity. In group 1 there were two cases associated with cytomegalovirus (CMV) infection. Of the 25 cases in group 2, eight (32%), all with other ultrasound anomalies, elected to terminate. The incidence of aneuploidy in group 2 was 17.4%. For the nine cases with isolated ventriculomegaly of > 15 mm, one (11%) was normal ( p < 0.001), five (56%) had minor neurological morbidity requiring a ventriculoperitoneal shunt ( p = 0.035), and three (33%) had major neurological morbidity ( p = 0.045) when compared to cases of isolated ventriculomegaly in group 1. There was one case of CMV infection in group 2. All perinatal deaths in both groups were associated with other anomalies. Conclusions: Amniocentesis to determine karyotype and the presence of CMV is warranted for all cases of ventriculomegaly of > 10 mm. The degree of antenatal ventriculomegaly is related to pediatric neurological morbidity and, when it is > 15 mm, it is associated with an increase in abnormal neurological development.     

Prenatal isolated mild ventriculomegaly: outcome in 167 cases

OBJECTIVE: To define the contribution of prenatal investigation and evaluate the prognosis of isolated mild ventriculomegaly (IMV). DESIGN: Retrospective study. SETTING: University hospital between January 1992 and December 2002. POPULATION: One hundred and sixty-seven cases of prenatal unilateral or bilateral IMV without any associated anomaly at the time of initial diagnosis. METHODS: Complementary investigations were performed: amniocentesis with karyotyping, screening for viruses and acetylcholinesterase electrophoresis, magnetic resonance imaging (MRI), and ultrasonography every 3-4 weeks. MAIN OUTCOME MEASURES: Results of prenatal investigations, pregnancy outcome, and postnatal psychomotor development. RESULTS: IMV was diagnosed around 26.5 weeks. Amniocentesis revealed four chromosomal anomalies and two cytomegalovirus infections. MRI diagnosed brain-associated anomalies in 15 cases and ultrasonographic monitoring highlighted malformations not initially diagnosed in 28 cases. Termination of pregnancy (TOP) was considered in 21 pregnancies (12.6%). Indications were aneuploidy, fetal infectious disease or associated malformations. In women for whom a TOP was considered, consanguinity, fetus of female sex and frontal horn enlargement were statistically more frequent, ventriculomegaly was more often bilateral and asymmetrical, atrial width, and the rate of progressive ventricular enlargement were significantly higher. One hundred and one children with prenatal IMV were assessed between 19 and 127 months (mean age 54.68 +/- 2.87 months). Twelve children had neurological disease or psychomotor delay and 89 children had a normal psychomotor development. Poor neurological outcome was more often associated with atrial width greater than or equal to 12 mm, asymmetrical bilateral enlargement, and progression of the ventriculomegaly. CONCLUSION: The detection of IMV raises the question of the child's psychomotor development and justifies meticulous prenatal investigation. In addition to associated anomalies, three criteria are often associated with an unfavourable outcome: atrial width greater than 12 mm, progression of the enlargement, and asymmetrical and bilateral ventriculomegaly.     

Isolated mild fetal cerebral ventriculomegaly: a retrospective analysis of 26 cases

We retrospectively studied 26 fetuses with isolated mild cerebral ventriculomegaly diagnosed between 1992 and 1998 and defined by a lateral ventricular atrial diameter of 10-15 mm without any other cerebral anomaly. Our objectives were to determine maternal risk factors, to evaluate complementary investigations, to assess developmental prognosis and to propose possible management. During pregnancy 10/26 patients had regressive ventriculomegalies, ten remained borderline at birth and six were confirmed postnatally. No maternal risk factors were identified. Prenatal investigations were carried out in 69% of cases but in only a few cases supplied any information. Postnatal examinations revealed one case of Down syndrome and one of porencephaly. Four children were lost to follow-up. In the 22 other cases, four had developmental delay. Early and unexplained mild ventriculomegaly appears to have a good prognosis. If ventriculomegaly is persistent, prenatal management should be carried out to investigate chromosomal abnormalities, viral infection, and fetal cerebral parenchymal damage. A long postnatal clinical follow-up is required.