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Classifying and Evaluating Fetuses With Ventriculomegaly in Genetic Etiologic Studies.

ABSTRACT: The association between genetics and fetuses with ventriculomegaly (VM) is unknown. This study aimed to classify and evaluate abnormal copy number variations (CNVs) in fetuses with VM. From December 2016 to September 2020, amniotic fluid or umbilical cord blood from 293 pregnant women carrying fetuses with VM was extracted for single-nucleotide polymorphism microarray (SNP array). Among 293 fetuses with VM, 31 were detected with abnormal CNVs, including 22 with pathogenic CNVs (7.51%) and nine with variation of uncertain clinical significance (VUS) CNVs (3.07%). Of the 22 fetuses with pathogenic CNVs, 13 had known disease syndromes. Among the 293 fetuses, 133 had mild isolated VM [pathogenic CNVs, 7/133 (5.26%)]; 142 had mild non-isolated VM [pathogenic CNVs, 13/142 (9.15%)]; 12 had severe isolated VM [pathogenic CNVs, 2/12 (16.67%)]; and six had severe non-isolated VM (no abnormal CNVs was detected). There was no statistical significance in the rate of pathogenic CNVs among the four groups (P = 0.326, P > 0.05). Among the 267 fetuses with successful follow-up, 38 were terminated (of these, 21 had pathogenic CNVs). Of the 229 fetuses, two had developmental delay and the remaining 227 had a good prognosis after birth. Overall, the results are useful for the detection of fetal microdeletion/microduplication syndrome and for the accurate assessment of fetal prognosis in prenatal consultation.

SUBMITTER: Cai M

PROVIDER: S-EPMC8286336 | biostudies-literature |

REPOSITORIES: biostudies-literature

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Neurodevelopmental outcome of fetuses referred for ventriculomegaly.

Project description:To characterize the delivery and postnatal neurodevelopmental outcomes of fetuses referred for ventriculomegaly (VM).Under an internal review board-approved protocol, pregnant women were referred for magnetic resonance imaging (MRI) after sonographic diagnosis of VM and classified into one of four diagnostic groups: Group 1, normal central nervous system (CNS); Group 2, isolated mild VM (10-12 mm); Group 3, isolated VM > 12 mm; and Group 4, other CNS findings. Pregnancy outcome was obtained. Follow-up visits were offered with assessment of neurodevelopmental, adaptive and neurological functioning at 6 months and 1 year and/or 2 years of age. Atrial diameter and VM group differences in developmental outcomes were evaluated using repeated measures logistic regression and Fishers exact test, respectively.Of 314 fetuses, 253 (81%) were liveborn and survived the neonatal period. Fetuses in Groups 4 and 3 were less likely to progress to live delivery and to survive the neonatal period (60% and 84%, respectively) than were those in Groups 2 or 1 (93% and 100%, respectively, P < 0.001). Of the 143 fetuses followed postnatally, between 41% and 61% had a Bayley Scales of Infant Development (BSID-II) psychomotor developmental index score in the delayed range (< 85) at the follow-up visits, whereas the BSID-II mental developmental index and Vineland Adaptive Behavior composite scores were generally in line with normative expectations. Among those that were liveborn, neither VM group nor prenatal atrial diameter was related to postnatal developmental outcome.Diagnostic category and degree of fetal VM based on ultrasound and MRI measurements are associated with the incidence of live births and thus abnormal outcome. Among those undergoing formal postnatal testing, VM grade is not associated with postnatal developmental outcome, but motor functioning is more delayed than is cognitive or adaptive functioning.

| S-EPMC2892836 | biostudies-literature

Maternal blood inflammatory marker levels increased in fetuses with ventriculomegaly.

Project description:BackgroundFetal ventriculomegaly (VM) is one of the most common abnormalities of the central nervous system (CNS), which can be significantly identified by brain anomalies prenatally by magnetic resonance imaging (MRI). Aberrant white blood cells (WBCs) levels indicate that the maternal is suffering from the infection. Previous studies have confirmed that prenatal infection can affect fetal brain structure, but there is no research revealed the association between maternal blood parameters with fetal VM until now.MethodsWe measured the width of the lateral ventricle of 142 fetuses, which were divided into the fetal VM group (n = 70) and the normal lateral ventricle group (n = 72). We compared maternal blood cell levels between the two groups and investigate potential biomarkers of fetal VM.ResultHigh levels of maternal WBC and neutrophil (NE#) levels were observed in fetuses with VM (p < 0.001), while lymphocyte percentage, monocytes (MO#), neutrophil/lymphocyte ratio (NLR), and platelet were also increased in the fetal VM group (p = 0.033, 0.027, 0.034, and 0.025, respectively). receiver-operator curve (ROC) analysis suggested that WBC and NE# counts might be useful to distinguish fetuses with enlarged lateral ventricles (AUC = 0.688, 0.678, respectively).ConclusionThe current study emphasizes the importance of maternal infection for fetal brain growth, which could provide important information for prenatal diagnosis of CNS anomalies. Future research needs longitudinal analysis and exploration of the influence of maternal blood inflammatory marker levels on fetal brain development.

| S-EPMC9760835 | biostudies-literature

Cortical folding alterations in fetuses with isolated non-severe ventriculomegaly.

Project description:Neuroimaging of brain diseases plays a crucial role in understanding brain abnormalities and early diagnosis. Of great importance is the study of brain abnormalities in utero and the assessment of deviations in case of maldevelopment. In this work, brain magnetic resonance images from 23 isolated non-severe ventriculomegaly (INSVM) fetuses and 25 healthy controls between 26 and 29 gestational weeks were used to identify INSVM-related cortical folding deviations from normative development. Since these alterations may reflect abnormal neurodevelopment, our working hypothesis is that markers of cortical folding can provide cues to improve the prediction of later neurodevelopmental problems in INSVM subjects. We analyzed the relationship of ventricular enlargement with cortical folding alterations in a regional basis using several curvature-based measures describing the folding of each cortical region. Statistical analysis (global and hemispheric) and sparse linear regression approaches were then used to find the cortical regions whose folding is associated with ventricular dilation. Results from both approaches were in great accordance, showing a significant cortical folding decrease in the insula, posterior part of the temporal lobe and occipital lobe. Moreover, compared to the global analysis, stronger ipsilateral associations of ventricular enlargement with reduced cortical folding were encountered by the hemispheric analysis. Our findings confirm and extend previous studies by identifying various cortical regions and emphasizing ipsilateral effects of ventricular enlargement in altered folding. This suggests that INSVM is an indicator of altered cortical development, and moreover, cortical regions with reduced folding constitute potential prognostic biomarkers to be used in follow-up studies to decipher the outcome of INSVM fetuses.

| S-EPMC5790022 | biostudies-literature

MR Imaging Diagnosis of Diencephalic-Mesencephalic Junction Dysplasia in Fetuses with Developmental Ventriculomegaly.

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| S-EPMC7960408 | biostudies-literature

Callosal dysgenesis in fetuses with ventriculomegaly: levels of agreement between imaging modalities and postnatal outcome.

Project description:To assess neurodevelopmental outcome of fetuses diagnosed with callosal abnormalities after referral for ventriculomegaly.This sub-analysis of a prospective study of 430 fetuses, which were referred for ventriculomegaly and underwent sonography and magnetic resonance imaging (MRI), included those fetuses with a diagnosis of corpus callosal abnormalities after recruitment into the main study. Between three and six radiologists independently reviewed ultrasound and MR images and recorded central nervous system (CNS) abnormalities, with final diagnoses being decided by consensus. Postnatal outcomes of fetuses with callosal abnormalities were compared between those with and those without other abnormalities.Callosal abnormalities were detected in 13% (58/430) of the fetuses referred with ventriculomegaly. Callosal dysgenesis was isolated in 24% (14/58) of these cases, with the remainder complicated by CNS, karyotypic or other major abnormalities. Five fetuses diagnosed prenatally as having isolated callosal abnormalities had additional CNS findings on postnatal assessment. Preconference kappa for callosal abnormalities was 0.76 for ultrasound and 0.78 for MRI, indicating that these investigations had a similar level of operator dependence. Neurodevelopmental outcome was normal or showed only mild delay that resolved in 67% (8/12) children with isolated callosal abnormalities compared to 7% (2/27) in those with non-isolated callosal abnormalities (P = 0.003).Callosal abnormalities are present in a significant proportion of fetuses with a diagnosis of ventriculomegaly. Isolated callosal abnormalities are associated with normal neurodevelopmental outcome in approximately two-thirds of fetuses.

| S-EPMC3733468 | biostudies-literature

A prospective study of fetuses with isolated ventriculomegaly investigated by antenatal sonography and in utero MR imaging.

Project description:Background and purposeFetal ventriculomegaly (VM) is important because of its high prevalence and high risk of association with other brain abnormalities. The purpose of this article was to investigate the hypotheses that including in utero MR imaging (iuMR) in the diagnostic pathway for fetuses with isolated VM on antenatal imaging will show other brain abnormalities in a high proportion of cases and that these will have a significant effect on clinical management.Materials and methodsOne hundred forty-seven pregnant women were recruited prospectively from 8 fetomaternal centers in Britain. All of the fetuses had VM diagnosed on sonography but no other abnormality. iuMR was performed, and the results of the examinations were compared with those of sonography. Two fetomaternal experts made independent assessments of the effects of any new diagnoses on clinical management.ResultsCategoric assessments of ventricular size were the same in approximately 90% of fetuses. Other abnormalities were shown in 17% of fetuses. The most frequent additional brain abnormality shown on iuMR was agenesis of the corpus callosum. Severe VM was associated with an approximately 10-fold increase in the risk of another brain abnormality being present when compared with fetuses with mild VM. The most profound effects on clinical management, however, were found in cases of mild VM.ConclusionsThis work supports our hypotheses by showing a high detection rate of other brain pathology when iuMR was used to supplement antenatal sonography (17%). In a high proportion of cases, the detection of the extra pathology would have led to significant changes in clinical management.

| S-EPMC7964094 | biostudies-literature

Detecting and exploiting etiologic heterogeneity in epidemiologic studies.

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| S-EPMC3530356 | biostudies-literature

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Familial congenital unilateral cerebral ventriculomegaly: Delineation of a distinct genetic disorder.

Project description:We identified two female siblings, derived from healthy first cousin parents, with congenital unilateral cerebral ventriculomegaly detected prenatally. Patient 1 underwent ventriculoperitoneal shunt operation at 1 week old, while Patient 2 was followed without surgical intervention. Both patients presented with mild developmental delay and hemiparesis contralateral to the involved hemisphere. Focal seizures were observed in Patient 1, whose neuroimaging revealed posterior insular polymicrogyria in the normal sized ventricle hemisphere and retrocerebellar cyst. Both siblings displayed near absence of white matter with marked thinning of the overlying cortex in the affected hemisphere and very thin corpus callosum. Investigations revealed no other system involvement and karyotyping was normal. Normal TORCH screening in subsequent pregnancies, normal parental coagulation profile and undetectable maternal autoantibodies suggested against the possible role of extrinsic factors as an etiological factor for unilateral ventriculomegaly. Parents had normal brain imaging findings. We suggest delineation of a distinct developmental brain defect, most likely of autosomal recessive inheritance.

| S-EPMC4902654 | biostudies-literature

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