Mild Ventriculomegaly Research Articles

Anatomical subgroup analysis of the MERIDIAN cohort: ventriculomegaly.

To assess the contribution of fetal magnetic resonance imaging (MRI) in fetuses of the MERIDIAN cohort diagnosed with ventriculomegaly (VM) as the only abnormal intracranial finding on antenatal ultrasound. This was a subgroup analysis of the MERIDIAN study of fetuses with only VM diagnosed on ultrasound in women who had a subsequent MRI examination within 2 weeks and for whom outcome reference data were available. The diagnostic accuracy of ultrasound and MRI was reported in relation to the severity of VM. The difference in measurements of trigone size on the two imaging methods and the clinical impact of adding MRI to the diagnostic pathway were also studied. In 306 fetuses with VM, ultrasound failed to detect 31 additional brain abnormalities, having an overall diagnostic accuracy of 89.9% for ultrasound, whilst MRI correctly detected 27 of the additional brain abnormalities, having a diagnostic accuracy of 98.7% (P < 0.0001). There were other brain abnormalities in 14/244 fetuses with mild VM on ultrasound (diagnostic accuracy, 94.3%) and MRI correctly diagnosed 12 of these (diagnostic accuracy, 99.2%; P = 0.0005). There was a close agreement between the size of trigones measured on ultrasound and on MRI, with categorical differences in only 16% of cases, showing that MRI did not systematically overestimate or underestimate trigone size. Complete prognostic data were available in 295/306 fetuses and the prognosis category changed after MRI in 69/295 (23.4%) cases. The overall effect of MRI on clinical management was considered to be 'significant', 'major' or 'decisive' in 76/295 (25.8%) cases. Our data suggest that a woman carrying a fetus with VM as the only intracranial finding on ultrasound should be offered an adjuvant investigation by MRI for further evaluation. Copyright © 2017 ISUOG. Published by John Wiley & Sons Ltd.

Recurrent De Novo Mutations Disturbing the GTP/GDP Binding Pocket of RAB11B Cause Intellectual Disability and a Distinctive Brain Phenotype

The Rab GTPase family comprises ∼70 GTP-binding proteins, functioning in vesicle formation, transport and fusion. They are activated by a conformational change induced by GTP-binding, allowing interactions with downstream effectors. Here, we report five individuals with two recurrent de novo missense mutations in RAB11B; c.64G>A; p.Val22Met in three individuals and c.202G>A; p.Ala68Thr in two individuals. An overlapping neurodevelopmental phenotype, including severe intellectual disability with absent speech, epilepsy, and hypotonia was observed in all affected individuals. Additionally, visual problems, musculoskeletal abnormalities, and microcephaly were present in the majority of cases. Re-evaluation of brain MRI images of four individuals showed a shared distinct brain phenotype, consisting of abnormal white matter (severely decreased volume and abnormal signal), thin corpus callosum, cerebellar vermis hypoplasia, optic nerve hypoplasia and mild ventriculomegaly. To compare the effects of both variants with known inactive GDP- and active GTP-bound RAB11B mutants, we modeled the variants on the three-dimensional protein structure and performed subcellular localization studies. We predicted that both variants alter the GTP/GDP binding pocket and show that they both have localization patterns similar to inactive RAB11B. Evaluation of their influence on the affinity of RAB11B to a series of binaryinteractors, both effectors and guanine nucleotide exchange factors (GEFs), showed induction of RAB11B binding to the GEF SH3BP5, again similar to inactive RAB11B. In conclusion, we report two recurrent dominant mutations in RAB11B leading to a neurodevelopmental syndrome, likely caused by altered GDP/GTP binding that inactivate the protein and induce GEF binding and protein mislocalization.

Correlation between fetal mild ventriculomegaly and biometric parameters

Introduction: The aim of this study was to assess the correlation between fetal lateral ventricle width and biometric measurements.Material and methods: A prospective study on 335 fetuses, 101 fetuses with isolated mild ventriculomegaly and a control group of 234 fetuses with a normal US examination. All fetuses underwent a detailed brain ultrasound scan and a full biometric evaluation. To further compare biometric parameters, we matched, according to gestational week and gender, 91 fetuses from the study group to 91 fetuses from the control group.Results: The mean gestational week during the exam was significantly different between the groups (29.6 weeks in the study group versus 28.3 in the control group, p = .001). The mean maternal age, obstetrical history, mode of conception, or fetal gender did not differ between the groups. After matching according to gestational age and fetal gender, the mean gestational week between the matched groups did not differ and was 29 + 5 weeks in both groups. The study group had significantly larger head circumference (p = .009), biparietal diameter (p < .001), femur length (p = .023), and estimated fetal weight (p = .024) compared with the control group.Conclusions: Isolated mild ventriculomegaly could be related to other larger fetal biometric measurements and does not necessarily mean a pathological condition.

EP03.12: A comparison between prenatal and postnatal radiologic findings of prenatally diagnosed lissencephaly cases

These cases are diagnosed prenatally as lissencephaly, and then term delivered normally. We compared between prenatal and postnatal radiologic findings. Case 1: A woman at 23 weeks of gestation was referred for mild ventriculomegaly. Fetus was 22 gestational weeks sized. The size of both ventricle size were 12 mm. The results of cordocentesis for chromosome abnormality and viral infection were normal. At 32 weeks of gestation, fetal estimated weight was 29 gestational weeks sized. Polyhydramnios was developed. Smooth brain contour and decreased gyri were detected by follow up detailed ultrasound (figure 1). A 2000 gram weighted female fetus was born at 37 gestational weeks. She was diagnosed with lissencephaly according to postnatal ultrasound and MRI (figure 1). Case 2: A woman at 37 weeks of gestation was referred for intrauterine growth restriction. Fetus was 32 gestational weeks sized. Bilateral mild ventriculomegalies were detected. Smooth brain contour and decreased gyri were suspected (figure 1). One weeks later, 2220 gram weighted male fetus was born. His postnatal ultrasound and MRI showed he had lissencephaly (figure 1). Supporting information can be found in the online version of this abstract Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article.

OP08.05: Prenatal diagnosis of Smith–Magenis syndrome in fetus with mild unilateral borderline ventriculomegaly: a case report

OP08.05: Prenatal diagnosis of Smith–Magenis syndrome in fetus with mild unilateral borderline ventriculomegaly: a case report

EP02.01: Fetal mild ventriculomegaly: the correlation between the degree of dilatation and other fetal biometric parameters

EP02.01: Fetal mild ventriculomegaly: the correlation between the degree of dilatation and other fetal biometric parameters

Application of chromosome microarray analysis for the delineation of pathogenesis for fetal ventriculomegaly

To assess the value of genome-wide high-resolution chromosomal microarray analysis (CMA) for the delineation of pathogenesis for fetal ventriculomegaly diagnosed by ultrasound or magnetic resonance imaging (MRI). Three hundred and forty-one cases of fetal ventriculomegaly were collected. The samples were grouped based on the extent of lateral ventricular dilatation, presence of additional features, site of occurrence, and the maternal age. All samples were subjected to karyotyping analysis. For those with a normal karyotype, DNA was extracted and hybridized with an Affymetrix CytoScan HD array. All cases were followed up. Among the 341 fetuses, 21 (6.2%) were detected with an abnormal karyotype. For the 320 cases with a normal karyotype, 179 (55.9%) have accepted CMA analysis. Potentially pathogenic CNVs were identified in 12 (6.7%) of the 179 cases, whose sizes ranged from 198 kb to 8.71 Mb. These included a 1q21.3q23.1 deletion, a 2q37.3 deletion, a 3p14.1p13 deletion, a 6q25.3 deletion, a 8q11.23 duplication, a 10q21.1 deletion, a 15q11.2 deletion and a 16p13.11p12.3 duplication, a 22q13.33 duplication, a 22q11.21 duplication and a Xp21.1 duplication (Duchenne muscular dystrophy). Pathogenic CNVs were detected respectively in 7.5% and 3.1% of those with mild and severe ventriculomegaly (P=0.615), in 6.1% and 7.4% of those with isolated and non-isolated ventriculomegaly (P=0.732), in 5.6% and 7.9% of those with unilateral and bilateral ventriculomegaly (P=0.511), and in 6.7% of both elderly and non-elderly groups (P=1.000). The detection rate for abnormal karyotypes among fetuses with ventriculomegaly was 6.2%. CMA can increase the detection rate by approximately 6.7%. There was no significant correlation between ventriculomegaly and presence of pathogenic CNVs. In clinical practice, fetuses with ventriculomegaly and a normal karyotype should be considered for CMA analysis.

Formation of the calcarine sulcus: a potential marker to predict the progression in utero of isolated mild fetal ventriculomegaly.

Our previous study confirmed the negative association between the development of calcarine sulcus and the width of lateral ventricles. The purpose of current study was to evaluate the reliability of calcarine sulcus depth in the 2nd trimester to predict the prenatal enlargement of lateral ventricle in fetuses with isolated mild fetal ventriculomegaly (IMVM).This study used a retrospective cohort study design. A total of 97 pregnant women with IMVM diagnosed between 20 and 26 weeks’ gestation returned for a 2nd examination at 30 to 32 weeks. Lateral ventricular size and calcarine sulcus depth were acquired from ultrasonography and magnetic resonance imaging (MRI) scans, respectively. Progression was defined as the process of developing from a lower group toward a higher (<10 mm, 10–12 mm, 13–15 mm, and ≥16 mm).Significant correlation was observed between calcarine sulcus depth and ventricular measurements at the 2nd scan (r = −0.71, P < .0001). Receiver-operating characteristic curves showed that calcarine sulcus depth (area under curve [AUC] = 0.83, 95% confidence interval [CI] = 0.74–0.92) had the best diagnostic performance in predicting the prenatal progression, as compared with lateral ventricle width (AUC = 0.69, 95%CI = 0.54–0.84) and gestational age (AUC = 0.70, 95%CI = 0.57–0.83) at the initial scan. The cutoff value for calcarine sulcus depth was 3.3 mm, with the corresponding sensitivity and specificity were 75.0% and 81.3%, respectively. Multivariate analyses showed that calcarine sulcus depth ≥3.3 mm (odds ratio = 0.09, 95%CI = 0.02–0.38, P = .001) was an independent predictor of the prenatal progression.For IMVM, calcarine sulcus depth might be a powerful marker to identify subjects at higher risk for worse prenatal progression.

Mild fetal cerebral ventriculomegaly: prevalence, characteristics, and utility of ancillary testing in cases presenting to a tertiary referral center.

Ventriculomegaly is the most common fetal brain anomaly identified during prenatal anatomy ultrasound. The aim of our study was to characterize cases of mild ventriculomegaly and investigate the utility of ancillary tests. We reviewed 121 cases of mild ventriculomegaly, defined as lateral ventricle diameter of 10 to 15mm. Characteristics of the ventricular dilation as well as each pregnancy were investigated. Ancillary tests performed included follow-up magnetic resonance imaging (MRI), chromosomal abnormality testing, and maternal serologic infection screening. The utility of each test was analyzed. We identified 56 cases of isolated and 65 cases of complex ventriculomegaly. Seventy-two (59.5%) were unilateral, and 49 (40.5%) were bilateral, with a mean gestational age at diagnosis of 24.5weeks. MRI provided additional information in 3/24 (12.5%) cases of isolated ventriculomegaly compared with 18/23 (78.2%) cases of complex ventriculomegaly. Chromosomal abnormality testing identified 4/9 (44.4%) genetic abnormalities compared with 8/30 (26.7%) in cases of isolated and complex mild ventriculomegaly, respectively. Finally, maternal serology infection screening was negative in all cases. Ancillary testing is useful in isolated mild ventriculomegaly. Follow-up MRI and chromosome abnormality testing specifically provided clinically useful information. Although there were no cases of maternal infection, screening may be an important component in management. © 2017 John Wiley & Sons, Ltd.

Copy Number Variations with Isolated Fetal Ventriculomegaly

Copy Number Variations (CNVs) are an important genetic cause of a number of neurodevelopmental disorders (NDs). However, the association between CNVs and the development and prognosis of fetal isolated mild ventriculomegaly (IMV) is unclear. To investigate possible associations between CNVs and the development of fetal IMV. This retrospective study recruited 154 subjects with ultrasound-confirmed fetal IMV and 190 subjects in a control cohort who underwent a high-risk prenatal serum screening program. The exclusion criteria included fetus G-banding chromosomal abnormality or positive fetus TORCH infection. DNA samples from all 344 fetuses were examined by an SNP-array. Developmental outcomes were assessed during postnatal follow-up. Fourteen pathogenic CNVs (pCNVs) were identified in 13 out of 154 IMV fetuses. Three pCNVs were found in 3 out of 190 subjects in the prenatal screening high-risk cohort, with a significant difference (P value=0.016, X2 test). Notably, the 14 pCNVs detected in the IMV cohort were all associated with neurodevelopmental disorders (NDs), including autism, intellectual disability. Among the 13 IMV fetuses carrying pCNVs, five subjects were found in the postnatal follow-up to manifest NDs, including two with autism and three with mild neurodevelopmental delay. The other 8 subjects consisted of three normal infants younger than 12-months old, two lost in the follow-up, and three with the termination of pregnancy. Out of 141 IMV subjects without detectable pCNVs, 123 subjects showed normal development, 16 were lost in the follow-up, 2 subjects terminated the pregnancy due to fetal hydrocephalus or congenital heart disease in the late fetus development. This study suggests an association between pCNVs and fetal IMV. pCNVs may be involved in the pathological process of fetal IMV and postnatal NDs. Identifying specific genomic alterations may provide an insight into pathogenetic mechanism and aid better diagnosis and prognosis of neurodevelopmental outcomes in fetal IMV.

Magnetic resonance imaging based correlation analysis between calcarine sulcus development and isolated fetal ventriculomegaly.

Fetal ventriculomegaly development leads to neurological, motor, and/or cognitive impairment, and is presently diagnosed based on the width of the atrium in the lateral ventricle. But in this study, we have tried to assess the relationship between the development of calcarine sulcus and width of fetal lateral ventricles, to assess if calcarine sulcus can also be used for fetal ventriculomegaly diagnosis. We conducted a retrospective analysis of the magnetic resonance imaging (MRI) data from 45 subjects with isolated mild fetal ventriculomegaly (IMVM). The calcarine sulcus development was divided into three categories based on the depth; Grade 1 (undeveloped), Grade 2 (underdeveloped), and Grade 3 (fully developed), and its correlation with fetal ventriculomegaly was analyzed based on Spearman's partial rank correlation test. Based on this analysis, the width of left and right lateral ventricles showed significant downward trend with the calcarine sulcus maturation [undeveloped (Left 13.88±2.70mm, Right 14.27±3.13mm)→underdeveloped (Left 12.95±1.93mm, Right 11.93±2.24mm)→fully developed (Left 11.06±2.10mm, Right 10.42±2.10mm)] (FLeft =5.12, P=0.01; FRight =10.72, P=1.73×10-4 ). In addition, significant correlations were also observed between the width of the lateral ventricles and the maturity of the calcarine sulcus (Spearman's rank correlation coefficient; -0.47 for the left lateral ventricles and -0.56 for the right, both P<0.001). Overall, our data indicated a negative correlation between the fetal morphological development of calcarine sulcus and the width of lateral ventricles in subjects having isolated fetal ventriculomegaly.

Joubert syndrome: neuroimaging findings in 110 patients in correlation with cognitive function and genetic cause

BackgroundJoubert syndrome is a clinically and genetically heterogeneous ciliopathy. Neuroimaging findings have not been systematically evaluated in a large cohort of patients with Joubert syndrome in correlation with molecular genetic...

FETAL CEREBRAL “BORDERLINE” VENTRICULOMEGALY

Ventriculomegaly represents the dilation of the cerebral ventricles above 10 mm, being classified as it follows: mild or “borderline” (10-12 mm), moderate (13-15 mm) and severe (over 15 mm). The incidence varies very much depending on the used technique and the gestational age. The level of choice in order to obtain the most exact measurement of the ventricular diameter is at the level of choroid plexus glomus. The MRI is another method to assess the fetal brain that allows also the evaluation of the cerebral surface. Unilateral ventriculomegaly is caused by the morphologic, physical or functional obstruction of foramen Monro. “Borderline” ventriculomegaly can be associated with chromosomal anomalies, congenital infections, cerebral vascular accidents or hemorrhage, but also other extra-cerebral anomalies. The factors that influence the prognosis of children diagnosed with mild ventriculomegaly are: gender, gestational age, ventricular size, uni- or bilateral impairment, symmetrical or asymmentrical bilateral ventriculomegaly, progression of ventriculomegaly – probably the most important factor of prognosis, regression of ventriculomegaly. The parents must be informed about the fact that there are certain ultrasonographic limitations regarding the differentiation of an isolated “borderline” ventriculomegaly of a ventriculomegaly associated to other occult anomalies that can not be identified initially, in order to take an adequate decision. The control fetal ultrasound is preferable to be performed after approximately 1-2 weeks from the moment of initial diagnosis of “ventriculomegaly”.

Prenatal diagnosis of Smith–Magenis syndrome in two fetuses with increased nuchal translucency, mild lateral ventriculomegaly, and congenital heart defects

ObjectiveSmith–Magenis syndrome (SMS) is a multiple congenital anomalies/mental retardation disorder characterized by an interstitial deletion involving chromosome 17p11.2 containing the retinoic acid-induced 1 (RAI1) gene or due to mutation of RAI1. Few cases have been reported in the medical literature regarding prenatal diagnosis of SMS. We report on the prenatal diagnosis of SMS in two fetuses with increased nuchal translucency (NT), mild lateral ventriculomegaly, and congenital heart defects by whole-genome and high-resolution chromosome microarray analysis (CMA). Case ReportThe CMA result of Fetus 1, which had increased NT, mild lateral ventriculomegaly, tricuspid regurgitation, and right aortic arch with left ductus arteriosus, revealed a de novo 4.79-Mb deletion at 17p12p11.2. Fetus 2 had increased NT, pulmonary stenosis, and a ventricular septal defect, and showed a de novo 3.68-Mb deletion at 17p11.2. ConclusionThe findings further confirm that increased NT is associated with genetic syndromes, and brain imaging is necessary for SMS fetuses. Both deletions encompass the SMS “critical region”, which includes many genes including RAI1. However, the precise gene(s) responsible for the heart defects in SMS remain unclear; further efforts should be undertaken to understand the molecular basis of this syndrome.

Fetal Brain Anomalies Associated with Ventriculomegaly or Asymmetry: An MRI-Based Study.

Fetal lateral ventriculomegaly is a relatively common finding with much debate over its clinical significance. The purpose of this study was to examine the association between ventriculomegaly and asymmetry and concomitant CNS findings as seen in fetal brain MR imaging. Fetal brain MR imaging performed for various indications, including ventriculomegaly, with or without additional ultrasound findings, was assessed for possible inclusion. Two hundred seventy-eight cases found to have at least 1 lateral ventricle with a width of ≥10 mm were included in the study. Ventriculomegaly was considered mild if the measurement was 10-11.9 mm; moderate if, 12-14.9 mm; and severe if, ≥15 mm. Asymmetry was defined as a difference of ≥2 mm between the 2 lateral ventricles. Fetal brain MR imaging findings were classified according to severity by predefined categories. The risk of CNS findings appears to be strongly related to the width of the ventricle (OR, 1.38; 95% CI, 1.08-1.76; P = .009). The prevalence of associated CNS abnormalities was significantly higher (P = .005) in symmetric ventriculomegaly compared with asymmetric ventriculomegaly (38.8% versus 24.2%, respectively, for all CNS abnormalities and 20% versus 7.1%, respectively, for major CNS abnormalities). In this study, we demonstrate that the rate of minor and major findings increased with each millimeter increase in ventricle width and that the presence of symmetric ventricles in mild and moderate ventriculomegaly was a prognostic indicator for CNS abnormalities.

The diagnostic yield of ultrasound of the head in healthy infants presenting with the clinical diagnosis of benign macrocrania

To investigate the frequency of sonographic findings that required neurosurgical consultation for all referred outpatients suspected to have benign macrocrania (BMC). A retrospective review was performed from September 2011 until June 2015 for all outpatients referred to the ultrasound (US) department for BMC. Electronic medical records, US images, and reports were reviewed in conjunction with follow-up imaging. Each review consisted of gender, specialty of referring physician, first head circumference, head circumference at or closest to the time of the head US, the last head circumference, and any neurological issue prior to the US, at the time of US, or following the US, and clinical outcomes. Statistical analysis employed the Kruskal-Wallis rank sum test and Fischer's exact test (chi square test of independence) that compared normal/BMC patients from the patients requiring a neurosurgical consultation. One hundred and thirty (40.9%) had a normal head US, 181 patients (56.9%) had sonographic findings of BMC, and seven (2.2%) patients had an abnormal head US that required a neurosurgical consultation. Of the 181 patients with BMC, 23 underwent follow-up imaging with 22 patients having unchanged BMC or a normal head US and one patient developing mild ventriculomegaly that was stable on follow-up imaging. Three of the seven patients (1%) aged 1.8, 2.3, and 13.1 months with abnormal head US requiring neurosurgical consultation, had mild ventriculomegaly that was stable on follow-up imaging. Four of the seven patients (1.2%) that required neurosurgical consultation needed a neurosurgical procedure. Between the two US subgroups (normal and BMC), no statistical significance was noted regarding age of patient at US, head circumference at clinical and radiological presentation (p>0.05) except for the first head circumference clinically documented which demonstrated statistical significance (p<0.03). Short interval surveillance including head circumference and assessment for the development of bulging anterior fontanelle and neurological abnormalities may be more cost effective than US in the initial evaluation of patients clinically suspected to have BMC.

Neurological Outcome in Fetuses with Mild and Moderate Ventriculomegaly.

Introduction Ventriculomegaly (VM) is one the most frequent anomalies detected on prenatal ultrasound. Magnetic resonance imaging (MRI) may enhance diagnostic accuracy and prediction of developmental outcome in newborns. Purpose The aim of this study was to assess the correlation between ultrasound and MRI in fetuses with isolated mild and moderate VM. The secondary aim was to report the neurodevelopmental outcome at 4 years of age. Methods Fetuses with a prenatal ultrasound (brain scan) diagnosis of VM were identified over a 4-year period. Ventriculomegaly was defined as an atrial width of 10-15 mm that was further divided as mild (10.1-12.0 mm) and moderate (12.1-15.0 mm). Fetuses with VM underwent antenatal as well as postnatal follow-ups by brain scan and MRI. Neurodevelopmental outcome was performed using the Griffiths Mental Development Scales and conducted, where indicated, until 4 years into the postnatal period. Results Sixty-two fetuses were identified. Ventriculomegaly was bilateral in 58% of cases. A stable dilatation was seen in 45% of cases, progression was seen in 13%, and regression of VM was seen in 4.5% respectively. Fetal MRI was performed in 54 fetuses and was concordant with brain scan findings in 85% of cases. Abnormal neurodevelopmental outcomes were seen in 9.6% of cases. Conclusion Fetuses in whom a progression of VM is seen are at a higher risk of developing an abnormal neurodevelopmental outcome. Although brain scan and MRI are substantially in agreement in defining the grade of ventricular dilatation, a low correlation was seen in the evaluation of VM associated with central nervous system (CNS) or non-CNS abnormalities.

OP05.04: Comparison between US and MRI findings in cases with mild ventriculomegaly

OP05.04: Comparison between <scp>US</scp> and <scp>MRI</scp> findings in cases with mild ventriculomegaly

Clinical outcomes of 241 cases with fetal ventriculomegaly

Objective To evaluate the pregnancy outcomes and prognosis of fetuses with different levels of ventriculomegaly. Methods Fetuses with ventriculomegaly subjected to the multidisciplinary consultation in the Obstetrics and Gynecology Hospital of Fudan University between January 2004 and December 2013 were included in this study. The fetuses were divided into three groups according to the width of the lateral ventricles on ultrasound examination as follows: mild ventriculomegaly (Mild Group, ≥10 - <12 mm, 151 cases), moderate ventriculomegaly (Moderate Group, ≥12 - <15 mm, 56 cases) and severe ventriculomegaly (Severe Group, ≥15 mm, 34 cases). All cases were followed up with additional ultrasound scans during pregnancy and follow-up was continued until the children were almost nine years old. Chi-square test, Fisher's exact test and Bonferroni method were used to analyze the data. Results Two hundred and forty one fetuses were followed up. Ninety-one cases were terminated, and 150 were born (105 cases in Mild Group, 30 cases in Moderate Group, and 15 cases in Severe Group). During ultrasound follow-up of the 150 cases, the lateral ventricle width regressed in 42 cases (28.0%) and remained stable in 108 cases (72.0%). In the regressed group, the ventricle width in 31 cases in the Mild Group regressed to normal and a hearing abnormality was noted in one case after birth. In the Moderate Group, the lateral ventricle width in nine cases regressed to normal, one case had mild ventriculomegaly, and none of these cases showed abnormalities after birth. One case in the Severe Group showed no abnormalities, while the width of the lateral ventricles decreased to 14.0 and 16.0 mm. With regard to the outcomes of lateral ventricle width with or without regression, one of 42 cases in the regressed group had a significant abnormality, while 19 of 108 cases in the stable group [eleven cases (14.9%, 11/74) in Mild Group, two (10.9%, 2/20) in Moderate Group, and six (6/14) in Severe Group] showed significant abnormalities. Statistically significant differences were found between the two groups [2.4%(1/42) vs 17.6%(19/108), χ2=4.940, P=0.026]. When the outcomes of the three groups were compared, 12 of 105 cases in the Mild Group (11.4%), two of 30 cases in the Moderate Group (6.7%), and 6 of 15 cases in the Severe Group (6/15) had significant abnormalities. Statistically significant differences were found between the three groups (χ2=6.908, P=0.032). Statistical significance was observed in the Moderate Group and Severe Group (χ2=4.929, P=0.026), while the Mild Group had a more favorable prognosis than the Severe Group (χ2=5.266, P=0.022). Chromosomal examinations were carried out in 57 cases and the incidence of chromosomal abnormalities was 8.8%(5/57) [7.0% (3/43), 1/8 and 1/6 in the three groups, respectively]. Infection screening was performed in 29 cases and one case was found to be positive for rubella virus-IgM, two cases were positive for cytomegalovirus-IgM, and one case was positive for toxoplasma gondii-IgM. Conclusions Pregnancy outcomes and the prognosis of fetal ventriculomegaly are associated with the degree and progression of ventricular dilatation. Key words: Ultrasonography, prenatal; Hydrocephalus; Pregnancy outcome; Follow-up studies

Obstetric and neurodevelopmental outcome in fetal cerebral ventriculomegaly

Purpose: The purpose of this study is to establish the obstetric and early neurological outcomes of fetuses diagnosed with intrauterine ventriculomegaly (VM). Materials and Methods: This retrospective study included 27 fetuses with VM diagnosed by ultrasound (US) and referred for in utero magnetic resonance imaging (MRI). US and MRI reports and laboratory test results were obtained including chromosome analysis, congenital infections, and first and second trimester screening tests. Infants were evaluated for clinical outcome for six to 24 months of age. Results: Twenty (51%) fetuses had mild and 19 (49%) fetuses had severe VM. Accompanying central nervous system (CNS) anomalies were statistically significantly more common in severe VM group. The outcome of mild VM group was statistically significantly better than in the severe VM group. Conclusions: The authors conclude that ventricular dimension is a significant prognostic factor to determine the outcome of fetal cerebral VM. The presence of accompanying CNS anomalies is more common with severe VM and may be considered as an unfavorable indicator for a better outcome.