Ventriculomegaly Research Articles

Unusual presentation of fetal ventriculomegaly: a case report

Fetal ventriculomegaly (VM) is a relatively common finding during prenatal examinations and occurs in approximately 0.2% of live births. Although there are various causes, obstructive VM due to cerebellar hemorrhage is exceedingly rare. A 33-year-old primigravida presented at 32 weeks of gestation with VM. At 36 weeks of age, a male infant was delivered via cesarean section. Postnatal imaging revealed severe bilateral hydrocephalus and space-occupying lesions in the cerebellum. Initial concerns about a potential germ cell tumor were raised due to elevated alpha-fetoprotein levels in both serum and cerebrospinal fluid. An external ventricular drain was placed to manage obstructive hydrocephalus. When the baby was 1 month old, surgical exploration revealed an old blood clot without any evidence of a tumor. Histopathological examination confirmed an old hemorrhage with no malignant cells. This case underscores the diagnostic challenges in distinguishing between hemorrhages and tumors in the context of fetal VM. Despite elevated alpha-fetoprotein levels, no tumors were identified. The underlying cause of cerebellar hemorrhage remains unclear despite extensive workups. Nevertheless, this case report details multifaceted diagnostic efforts to address the rare occurrence of cerebellar hemorrhage related to fetal VM, leading to a comprehensive case presentation.

Isolated Fetal Ventriculomegaly: Diagnosis and Treatment in the Prenatal Period.

Fetal ventriculomegaly (VM) is a defect of the central nervous system, typically diagnosed during the second-trimester ultrasound in fetuses with an atrial diameter (AD) of >10 mm. Non-isolated ventriculomegaly (NIVM) is heterogeneous in nature, coexisting with additional intracranial and/or extracranial malformations and genetic syndromes, resulting in an unfavorable prognosis for the further development of the child. Both the pregnancy management and counseling are dependent on the findings of combined ultrasound/MRI, genetic testing, and gestational age at diagnosis. The purpose of this review is to propose a hypothesis that diagnostic advancements allow to define the process of identification of the isolated forms of VM (IVM). Based on the evidence presented in the literature, we consider whether prenatal decompression for severe isolated VM (ISVM) is supported by the experimental trials and whether it might be implemented in clinical practice. Also, we describe the evolution of the diagnostic methods and expert opinions about the previously used prenatal decompression techniques for ISVM. In conclusion, we introduce the idea that fetal surgery centers have either reached or nearly reached the necessary level of expertise to perform such procedures. Endoscopic cystoventriculostomy (ETV) appears to be the most promising, as it is associated with minimal perinatal complications and favorable neurological outcomes in the neonatal period. Randomized trials with long-term neurodevelopmental follow-up of children who underwent prenatal decompression due to ISVM are necessary.

Is choroid plexus growth altered in isolated ventriculomegaly on fetal neuro-ultrasound?

Reveal developmental alterations in choroid plexus volume (CPV) among fetuses with isolated ventriculomegaly (VM) through neuro-ultrasound. This prospective study aimed to assess the development of fetal CPV in normal fetuses and those with isolated VM through neuro-ultrasound. The fetuses of isolated VM were categorized into mild, moderate, and severe groups, and subsequently, the lateral ventricle evolution was monitored. The developmental alterations in CPV among fetuses with isolated VM were determined by comparing the CPV z-scores with those of normal fetuses. Receiver operating characteristics curve analysis was used to assess the predictive value of altered CPV in lateral ventricle evolution. A total of 218 normal fetuses and 114 isolated VM fetuses from 22 weeks to 35 weeks of gestation were included. The CPV decreased as the isolated VM was getting worse. Both fetuses with isolated moderate ventriculomegaly and those with isolated severe ventriculomegaly exhibited reduced CPV compared to normal fetuses. The CPV in fetuses with isolated mild ventriculomegaly (IMVM) varied, with some showing a larger CPV compared to normal fetuses, while others exhibited a smaller CPV. The larger CPV in cases of IMVM may serve as a predictive factor for either regression or stability of the lateral ventricle, while reduced CPV in cases of isolated VM may indicate worsening of the lateral ventricle. The growth volume of fetal CP exhibited alterations in fetuses with isolated VM, and these changes were found to be correlated with the evolution of the lateral ventricle. Neuro-ultrasound revealed varying degrees of alterations in the volume development of the choroid plexus within the fetus with isolated VM. The findings can help predict lateral ventricle prognosis, greatly contributing to prenatal diagnosis strategies for fetuses with isolated VM. The volume of choroid plexus growth is altered in fetuses with isolated VM. The altered CPV in isolated VM was associated with lateral ventricle evolution. The findings are useful for prenatal counseling and managing fetuses with isolated VM.

Clinical characteristics and perinatal outcome of fetuses with ventriculomegaly

PurposeTo assess the incidence of associated structural anomalies, chromosomal/genetic abnormalities, infections, and perinatal outcomes of fetuses with ventriculomegaly (VM), also to evaluate the role of fetal magnetic resonance imaging (MRI) in detecting associated intracranial anomalies.MethodsRetrospective cohort study of 149 prenatally diagnosed pregnancies with fetal VM. VM was classified as mild (Vp = 10–12 mm), moderate (Vp = 12.1–15 mm), and severe (Vp > 15 mm). Fetal MRI was performed to 97 pregnancies.ResultsThe incidences of an associated CNS, non-CNS, chromosomal anomaly, genetic abnormality and fetal infection were 42.3%, 11.4%, 6.1%, 2.1% and 1.3%, respectively. Fetal MRI identified additional CNS anomalies in 6.7% of cases, particularly in severe VM. The incidences of perinatal outcomes were 18.8% termination of pregnancy, 4% intrauterine and 8.1% neonatal or infant death. The rates of fetuses alive at > 12 months of age with neurological morbidity were 2.6%, 11.1% and 76.9% for mild, moderate and severe isolated VM, respectively.ConclusionThe prognosis of fetuses with VM mostly depends on the severity and the associated anomalies. Mild to moderate isolated VM generally have favorable outcomes. Fetal MRI is particularly valuable in fetuses with isolated severe VM.

Prenatal diagnosis and pregnancy outcomes in fetuses with ventriculomegaly.

Genetic etiology plays a critical role in fetal ventriculomegaly (VM). However, the studies on chromosomal copy number variants (CNVs) in fetal VM are limited. This study aimed to investigate the chromosomal CNVs in fetuses with mild to moderate VM, and explore its genotype-phenotype correlation. A total of 242 fetuses with mild to moderate VM detected by prenatal ultrasound were enrolled in our study from October 2018 to October 2022. All cases underwent chromosomal microarray analysis (CMA) and G-banding simultaneously. All VM cases were classified different subgroups according to the maternal age, severity, VM distribution and presence/absence of other ultrasound abnormalities. The pregnancy outcomes and health conditions after birth were followed up. We also performed a pooled analysis regarding likely pathogenic and pathogenic CNVs (LP/P CNVs) for VM. The detection rate of chromosomal abnormalities by karyotyping was 9.1% (22/242), whereas it was 16.5% (40/242) when CMA was conducted (P < 0.05). The total detection rate of chromosomal abnormalities by karyotyping and CMA was 21.1% (51/242). A 12.0% incremental yield of CMA over karyotyping was observed. The detection rate of total genetic variants in fetuses with bilateral VM was significantly higher than in fetuses with unilateral VM (30.0% vs. 16.7%, P = 0.017). No significant differences were discovered between isolated VM and non-isolated VM, or between mild and moderate VM, or between advanced maternal age (AMA) and non-AMA (all P > 0.05). 28 fetuses with VM were terminated and 214 fetuses were delivered: one presented developmental delay and one presented congenital heart disease. The VM cases with both positive CMA and karyotypic results had a higher rate of termination of pregnancy than those with either a positive CMA or karyotypic result, or both negative testing results (P < 0.001). The combination of CMA and karyotyping should be adopted to improve the positive detection rate of chromosomal abnormalities for VM. The total genetic abnormalities detected using both techniques would affect the final pregnancy outcomes. LP/P CNVs at 16p11.2, 17p13, and 22q11.21 were identified as the top three chromosomal hotspots associated with VM, which would enable genetic counselors to provide more precise genetic counseling for VM pregnancies.

A Retrospective Analysis of Central and Peripheral Metabolic Characteristics in Patients with Cryptococcal Meningitis.

Most current treatment strategies and investigations on cryptococcal meningitis (CM) focus primarily on the central nervous system (CNS), often overlooking the complex interplay between the CNS and the peripheral system. This study aims to explore the characteristics of central and peripheral metabolism in patients with CM. Patients diagnosed with CM as per the hospital records of the Fourth People's Hospital of Nanning were retrospectively analyzed. Patients were divided into two groups, non-structural damage of the brain (NSDB) and structural damage of the brain (SDB), according to the presence of brain lesions as detected with imaging. Based on the presence of enlarged cerebral ventricles, the cases in the SDB group were classified into non-ventriculomegaly (NVM) and ventriculomegaly (VM). Various parameters of cerebrospinal fluid (CSF) and peripheral blood (PB) were analyzed. A significant correlation was detected between CSF and PB parameters. The levels of CSF-adenosine dehydrogenase (ADA), CSF-protein, CSF-glucose, and CSF-chloride ions were significantly correlated with the levels of PB-aminotransferase, PB-bilirubin, PB-creatinine (Cr), PB-urea nitrogen, PB-electrolyte, PB-protein, and PB-lipid. Compared with NSDB, the levels of CSF-glucose were significantly decreased in the SDB group, while the levels of CSF-lactate dehydrogenase (LDH) and CSF-protein were significantly increased in the SDB group. In the SDB group, the levels of PB-potassium, PB-hemoglobin(Hb), and PB-albumin were significantly decreased in the patients with VM, while the level of PB-urea nitrogen was significantly increased in these patients. Metabolic and structural alterations in the brain may be associated with peripheral metabolic changes.

Follow-up outcome analysis of 324 cases of early-onset and late-onset mild fetal ventriculomegaly: a retrospective cohort study

BackgroundMild fetal ventriculomegaly (VM) is a nonspecific finding common to several pathologies with varying prognosis and is, therefore, a challenge in fetal consultation. We aimed to perform a constant, detailed analysis of prenatal findings and postnatal outcomes in fetuses with early-onset and late-onset mild ventriculomegaly, and provide a new evidence basis and new perspective for prenatal counseling.MethodsThis is a retrospective cohort study of women with a diagnosis of mild fetal VM between January 2018 and October 2020. The population was divided into two groups according to the gestational ages (GAs) at initial diagnosis: the early-onset group (diagnosed at/before 24+6 weeks) and the late-onset group (diagnosed after 24+6 weeks). Clinical data and pregnancy outcomes were obtained from hospital records. The children’s neurodevelopment status was assessed using the Ages and Stages Questionnaire, Third Edition (ASQ-3) and telephone interviews.ResultsOur study cohort comprised 324 fetuses, out of which 94 (29%) were classified as early-onset group and 230 (71%) late-onset group. Early-onset group was more likely to have concurrent additional abnormalities, whereas in the late-onset group, isolated enlargement was more common (P = 0.01). Unilateral enlargement was more common in the late-onset group (P = 0.05), and symmetrical enlargement in the early-onset group (P < 0.01). In addition, early-onset mild VM cases were more likely to have intrauterine progression (P = 0.03), and many had a higher proportion of complex multisystem abnormalities. Compared with the late-onset group, the early-onset group was more often associated with congenital brain structure malformations. Approximately 11% of fetuses with mild VM had postnatal neurodevelopmental delay/disorders, and the risk was higher in the early-onset group (19.4% vs. 7.4%). Regression analysis showed that the GA at first diagnosis, non-isolated, and intrauterine progression significantly correlated with neurodevelopmental abnormalities.ConclusionsEarly-onset and late-onset mild VM had significantly different ultrasound features and outcomes. Early-onset mild VM may have more complex potential abnormalities and are more likely to predict poor prognosis than the late-onset.

Genotype-phenotype correlation study of structural abnormalities in a fetal brain caused by a novel KDM4B variant.

Fetal ventriculomegaly (VM), a common brain structure malformation detected during prenatal ultrasound diagnosis, is associated with an increased risk of neurodevelopmental disorders (NDDs) after birth. KDM4B encodes a lysine-specific demethylase that interacts with histone H3K23me3. Variations in KDM4B are reportedly associated with human NDDs; however, only 11 such patients have been reported. Herein, we report a fetus with VM and agenesis of the corpus callosum (ACC), which suggests that KDM4B plays an important role in fetal brain development. Fetal skin tissue and parental peripheral venous blood samples were collected. Whole-exome and Sanger sequencing were performed to analyze fetal germline variants. Human 293T cells transfected with wild-type or mutant KDM4B were used for western blotting (WB) to analyze protein expression levels. An insertion variant of KDM4B, NM_015015.3: c.2889_2890insGAGAGCATCACGGTGAGCTGTGGGGTGGGGCAGGGGGCGGGGGGAGGCTGGGAGCACAGTGACAACCTGTACCCC, was identified in the fetal tissue; however, the parents carried the wild-type gene. The WB results indicated significantly reduced expression of the mutant protein, likely owing to decreased stability. The structural abnormalities in the brain of the studied fetus may be attributed to an insertion variant of KDM4B. This study highlights the importance of screening for KDM4B variants and considering potential copy number variations when observing VM or ACC in prenatal ultrasound imaging.

Pregnancy outcomes and genetic analysis for fetal ventriculomegaly.

Introduction: Fetal ventriculomegaly (VM) is associated with neurodevelopmental disorders, partly caused by genetic factor. Methods: To systematically investigate the genetic etiology of fetal VM and related pregnancy outcomes in different subgroups: IVM (isolated VM) and NIVM (non-isolated VM); unilateral and bilateral VM; mild, moderate, and severe VM, a retrospective study including 131 fetuses with VM was carried out from April 2017 to August 2022. Results: 82 cases underwent amniocentesis or cordocentesis, of whom 8 cases (9.8%) were found chromosomal abnormalities by karyotyping. Meanwhile, additional 8 cases (15.7%) with copy number variations (CNVs) were detected by copy number variation sequencing (CNV-seq). The detection rate (DR) of chromosomal abnormalities was higher in NIVM, bilateral VM and severe VM groups. And CNVs frequently occurred in NIVM, bilateral VM and moderate VM groups. In the NIVM group, the incidence of chromosomal aberrations and CNVs in multiple system anomalies (19.0%, 35.7%) was higher than that in single system anomalies (10.0%, 21.1%). After dynamic ultrasound follow-up, 124 cases were available in our cohort. 12 cases were further found other structural abnormalities, and lateral ventricular width was found increased in 8 cases and decreased in 15 cases. Meanwhile, 82 cases underwent fetal brain MRI, 10 cases of brain lesions and 11 cases of progression were additionally identified. With the involvement of a multidisciplinary team, 45 cases opted for termination of pregnancy (TOP) and 79 cases were delivered with live births. One infant death and one with developmental retardation were finally found during postnatal follow-ups. Discussion: CNV-seq combined with karyotyping could effectively improve the diagnostic rate in fetuses with VM. Meanwhile, dynamic ultrasound screening and multidisciplinary evaluation are also essential for assessing the possible outcomes of fetuses with VM.

White matter changes in fetal brains with ventriculomegaly.

Ventriculomegaly (VM) is a fetal brain malformation which may present independently (isolated form) or in association with different cerebral malformations, genetic syndromes or other pathologies (non-isolated form). This paper aims to study the effect of ventriculomegaly on the internal tridimensional architecture of fetal brains by way of Klingler's dissection. Ventriculomegaly was diagnosed using fetal ultrasonography during pregnancy and subsequently confirmed by necropsy. Taking into consideration the diameter of the lateral ventricle (measured at the level of the atrium), the brains were divided into two groups: moderate ventriculomegaly (with atrial diameter between 13 and 15 mm) and severe ventriculomegaly (with atrial diameter above 15 mm). The results of each dissection were described and illustrated, then compared with age-matched reference brains. In the pathological brains, fascicles in direct contact with the enlarged ventricles were found to be thinner and displaced inferiorly, the opening of the uncinate fasciculus was wider, the fornix was no longer in contact with the corpus callosum and the convexity of the corpus callosum was inverted. We have studied the prevalence of neurodevelopmental delay in children born with ventriculomegaly in the literature and discovered that a normal developmental outcome was found in over 90% of the mild VM cases, approximately 75% of the moderate and 60% in severe VM, with the correlated neurological impairments ranging from attention deficits to psychiatric disorders.

Natural history and mid-term neurodevelopmental outcome of fetuses with isolated mild ventriculomegaly diagnosed in the second half of pregnancy

Introduction Prenatal diagnosis and counseling of isolated ventriculomegaly (VM) represent a considerable challenge. We aimed to analyze the intrauterine evolution, associated anomalies, and neurodevelopmental outcome using the Battelle Development Inventory (BDI) of fetuses with an initial diagnosis of isolated mild VM. Material and methods Retrospective cohort study of fetuses diagnosed with mild isolated VM (10 -12 mm) between 2012 and 2016 in a tertiary hospital. In 2018, parents were invited to complete the structured BDI test for the neurodevelopmental evaluation of their children in five domains (personal-social skills, adaptive behavior, psychomotor ability, communication, and cognition). Results exceeding two standard deviations were considered abnormal and referred to an expert neuropediatrician. Results We identified 43 cases of mild isolated VM. In 5 (11%), structural abnormalities were detected during prenatal follow-up, being related to non-regressive forms (p = .01) and bilateral VM (p = .04). The BDI test was completed by 19/43 (44%). The global score was abnormal in 10/19 (53%). Of them, the neuropediatrician confirmed a neurodevelopmental delay solely in 3 cases that had already been diagnosed with neurological disorders. The most affected domains were gross motor skills (63%), personal-social (63%), and adaptive domains (47%). Communicative and cognitive areas were abnormal in 26% of cases. Conclusion In fetuses with isolated mild VM detected in the second half of pregnancy, 53% had an abnormal BDI test at 2–6 years, but a neurological disorder was only confirmed in the 30% of them.

Evolution of fetal ventriculomegaly diagnosed in the second trimester of pregnancy: A retrospective study in Northern Greece

Introduction: The present retrospective study aims to examine the course of ventriculomegaly (VM) during gestation, the association between the degree of VM and the presence of additional sonographic fetal malformations, as well as to inspect the prevalence of VM with reference to fetal gender. Materials and Methods: The databases of two maternal-fetal ultrasound units were reviewed from 2010 to 2021. All cases were classified as either mild (10 to &lt;12mm), moderate (12 to &lt;15mm), or severe (≥15mm) according to the fetal posterior ventricle width measurement upon VM diagnosis, at 20-24 weeks of gestation. Furthermore, cases with additional fetal sonographic abnormalities were registered as cases of non-isolated VM, whereas those cases without further fetal malformations on ultrasound (US) scan were documented as cases of isolated VM. The final sonographic record of every participant, following VM diagnosis, was registered so that the evolution of VM during gestation could be monitored. Results: The sonographic and medical records of 81 women diagnosed with fetal VM were studied. The prevalence of VM is about 0.24% and the male/female ratio was 2; 88.9% of the cases were mild, 9.9% moderate, while only 1 (1.2%) was severe at diagnosis. Among the initial 62 cases of mild VM, 24 (38.7%) regressed, 16 (25.8%) remained unchanged and 22 (35.5%) progressed. There was an association between a higher degree of VM and the presence of additional fetal abnormalities. Conclusions: The majority of VM cases are mild at diagnosis and in isolated about one third resolves in the third trimester and about one third progresses but not to severe. Therefore, a follow up scan is useful to reassure most parents and identify those cases that may progress to moderate.

A prospective study of prenatal ventriculomegaly: natural course, survival, and neurodevelopmental status.

Prenatal ventriculomegaly (VM) is classified as mild, moderate, or severe on the basis of the diameter of the atrium. Neurodevelopmental status in prenatal VM is associated with various factors such as the course of VM, VM type, progression, and associated anomalies. In this study, the authors aimed to evaluate neurodevelopmental outcome in patients with prenatal VM and to detect possible associated risk factors. In this study, 73 pregnancies with VM who were referred to Children's Medical Center, Tehran, Iran, between 2019 and 2021 were prospectively followed. They were followed up every 2-4 weeks with ultrasonography (US) before delivery and were then observed for an average time of 14.6 months. The authors collected demographic and ultrasound information, associated abnormalities, pregnancy outcomes, and developmental status according to Centers for Disease Control criteria. The mean gestational age at the time of diagnosis was 28.1 weeks, and 46.6% of fetuses were female. According to the first US, 46.6% had mild, 21.9% had moderate, and 31.5% had severe VM. Serial US scans showed that VM had regressed in 20.5% of patients, remained stable in 35.6%, and progressed in 43.8%. Other cranial abnormalities were detected in 38.4% of fetuses. During follow-up, 62.5% of cases had normal developmental status, 26.6% had mild delay, and 10.9% had severe neurodevelopmental delay. Pregnancy was terminated in 9 (12.3%) cases. Normal neurodevelopment was reported in 75.8% of patients with mild VM versus 50% of those with severe VM (p = 0.19). Neurodevelopmental status was normal in 72.5% of cases without other cranial abnormalities (p = 0.018) and in 86.7% of cases with regression of VM (p = 0.028). Despite analysis of different factors in prenatal VM, only progression of VM and associated cranial abnormalities had significant relationships with neurodevelopmental prognosis.

Short-Term and Long-Term Outcomes of Fetal Ventriculomegaly beyond Gestational 37 Weeks: A Retrospective Cohort Study.

Birth defects have brought about major public health problems, and studying the clinical outcomes of the most common prenatal central nervous system abnormality, namely, fetal ventriculomegaly (VM), is helpful for improving reproductive health and fertility quality. This is a retrospective cohort study from 2011 to 2020 in the West China Second University Hospital, Sichuan University, aiming to evaluate the short-term and long-term outcomes of VM over 37 weeks' gestation to exclude the influence of preterm birth. The study analyzed data from 401 term pregnancies, with 179 VM and 222 controls. From the short-term outcomes, the rate of the neonatal intensive care unit (NICU) admission under the VM group (10.06%) was comparatively higher than the control (0.45%), but Apgar scores between both groups at 1 min, 5 min and 10 min were not significantly different. From the long-term outcomes, there were more infants with abnormal neurodevelopment under the VM group than control (14.53% vs. 2.25%, p < 0.001). In addition, NICU admission (p = 0.006), peak width of lateral ventricles (p = 0.030) and postnatal cranial ultrasound suggestive with VM (p = 0.002) were related to infants' long-term outcomes. NICU admission during the perinatal period was an independent risk factor for the adverse long-term outcomes (OR = 3.561, 95% CI 1.029-12.320, p = 0.045). In conclusion, VM impairs short-term and long-term outcomes of term infants. Short-term outcome, especially NICU admission, could predict their adverse long-term outcomes.

Presentation of ventriculomegaly at 11-14weeks of gestation: An analysis of longitudinal data.

The aim of this study was to examine the value of the sonographic measurements of the choroid plexus and the lateral ventricles at 11-14 gestational weeks in fetuses that had the diagnosis of second-trimester ventriculomegaly (VM) as a clinical reference. The standard axial plane used for biparietal diameter measurement from 2D stored images in the first trimester was used to calculate the ratio between the choroid plexus and lateral ventricle diameter (PDVDR), the choroid plexus and lateral ventricle length (PLVLR) and the choroid plexus and lateral ventricle area (PAVAR) in 100 normal and 15 fetuses diagnosed with second-trimester VM. In fetuses with VM, the measurements of PDVDR, PLVLR and PAVAR were all significantly smaller compared to normal fetuses (p=<0.001, <0.001, <0.01). Four out of seven cases with mild VM had measurements below the 5th percentile (57%). 75% of cases with moderate or severe VM had at least one measurement below the 5th percentile. Since the axial plane of the fetal head is obtained in all first-trimester routine screenings, the measurements of PDVDR, PLVLR and PAVAR could easily be integrated into routine examinations for an early detection of VM.

Classification of Ventriculomegaly and its Associated Findings using Antenatal Ultrasound Scan at a Tertiary Care Hospital: Andhra Pradesh, India: A Retrospective Descriptive Study

Introduction: Foetal Ventriculomegaly (VM) is defined as the enlargement of the lateral ventricles in the developing foetal brain. The measurement of foetal cerebral lateral ventricles’ size is routinely recommended as part of the second-trimester foetal scan to screen for anomalies. VM can occur due to obstruction of the Cerebrospinal Fluid (CSF) tract, absorption disorders, inadequate brain development, or excessive CSF production. Aim: To classify VM based on severity to differentiate between isolated and non isolated VM. Materials and Methods: A retrospective descriptive study was conducted in the Department of Radiology at PESIMSR, Andhra Pradesh, India., a tertiary medical hospital, from April 2018 to April 2021. Cases were selected from computer records showing a diagnosis of hydrocephalus or foetal VM in patients who underwent the Ultrasound (US) anomaly scan. VM was defined as a lateral ventricle width of ≥10 mm. Foetal VM was classified, and associated CNS and extracranial abnormalities and their details were collected. Descriptive statistics were used, and results were expressed in terms of frequency and percentage. Results: The VM was observed in 91 foetuses, with mild VM in 59 foetuses (64%), moderate VM in 14 foetuses (15.2%), and severe VM in 18 foetuses (19.5%). The median age at diagnosis was 26.5 weeks. Isolated mild VM was seen in 26 cases (44%), and it was associated with other abnormalities in 33 cases (56%). Isolated moderate VM was observed in four cases (28.5%), while 10 cases (71.4%) were associated with other abnormalities. Isolated severe VM was seen in (33.3%) 6, and it was associated with abnormalities in 12 cases (66.6%). The most common associated abnormalities were foetal growth restriction (15 cases), absent cavum septum pellucidum (eight cases), and open spina bifida, Arnold-Chiari malformation (eight cases). Conclusion: Ultrasound is a sensitive tool for detecting VM. Once VM is diagnosed, a detailed examination of the fetus should be conducted to evaluate other CNS and non CNS anomalies, thereby differentiating isolated from non-isolated VM, as the prognosis may vary. This information will be valuable for counseling patients.

Maternal blood inflammatory marker levels increased in fetuses with ventriculomegaly.

Fetal 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. We 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. High 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). The 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.

Frequency Of Spinal Defects in Fetuses with Ventriculomegaly

Fetal ventriculomegaly (VM) is a dilation of the lateral ventricle. Different patients have different etiologies for fetal ventriculomegaly, which can be idiopathic, structural, or chromosomal. A measurement of 10–15 mm is commonly referred to as mild ventriculomegaly, while measurements of 15–20 and &gt;20 mm and above are defined as moderate and severe ventriculomegaly. Objective: To find the frequency of spinal defects (SD) in fetuses with ventriculomegaly (VM). Methods: It was a cross-sectional analytical study which included 103 pregnant ladies who had evidence of ventriculomegaly visited multiple centers during research period. Convenient sampling method was used. The presence of ventriculomegaly was confirmed using transabdominal probe with frequency 3-5 MHz. Frequency was calculated and crosstabs were made using SPSS version 21.0. Results: Among 103 pregnant patients, frequency of fetal spinal defects was 25.2%. Frequency of ventriculomegaly was as follow: mild ventriculomegaly 43.7%, moderate ventriculomegaly 31.2%, and severe ventriculomegaly 25.2%. Among 103 patients, 25.2% patients had AFI greater than 21. Frequency of mother's H/O any fetal spinal defects in their previous pregnancies was 15.5%. Conclusions: The study concluded that frequency of spinal defects in fetuses with ventriculomegaly was 25.2% and spinal defects occur in those patients who had severe ventriculomegaly (&gt;20mm) and had AFI greater than 25

Assessment of foetal ventriculomegaly from prenatal to early postnatal period: a single-centre retrospective cohort study

The aim of this study was to evaluate the early neonatal outcomes of cases with foetal ventriculomegaly (VM) and to investigate the aetiological and prognostic factors according to the degree of VM in a single tertiary referring centre. The medical records of 87 foetuses diagnosed with VM (≥10 mm) within 6 years were evaluated. Postnatal evaluation and early neonatal prognosis were determined in 39 cases divided into two groups as mild (10–15 mm, 30 cases) and severe (>15 mm, 9 cases) according to the ventricular size. The mean gestational age at which foetal VM was detected was 22 + 3 weeks. In terms of severity, severe cases of VM were more frequent in terminated pregnancies. There was no difference in gestational age, birth weight, fifth minute Apgar scores, or cord blood gases between mild and severe cases at delivery. Isolated VM was detected in 63% of mild and 22% of severe cases. In severe cases, the need for intensive care and surgery was higher than in mild cases. Antenatal VM regressed in 50% of mild cases and 22% of severe cases. Increasing knowledge about neonatal prognosis, the factors involved in aetiology, and the degree of VM will guide the management of foetal VM. IMPACT STATEMENT What is already known in this subject? Some cases of foetal VM resolve spontaneously, and postnatal ultrasonography can detect normal ventricle sizes. While 74.6% of isolated VM cases show spontaneous regression, this rate is 52.1% in nonisolated cases. The gestational week at the time of diagnosis, the degree and cause of VM, intrauterine progression and the presence of any genetic, infectious, cerebral, or extracerebral disorders all influence the prognosis. What do the results of this study add? Antenatal VM regressed in 50% of mild cases and 22% of severe cases. In severe cases, the need for intensive care and surgery was higher than in mild cases. The higher frequency of accompanying cerebral findings in severe cases was striking. What are the implications of these findings for clinical practice and/or further research? The current study revealed that isolated VM with ventricular diameter less than 15 mm, after excluding out chromosomal abnormalities and prenatal infections, and no prior history of VM, has a favourable neonatal prognosis in terms of mortality and morbidity. In cases of foetal VM, increased knowledge of neonatal prognosis will guide pregnancy care and postnatal follow-up planning. Prospective multicentre studies on the neonatal period are required to bridge the gap between foetal VM and long-term consequences

Role of Sonographic Second Trimester Soft Markers in the Era of Cell-Free DNA Screening Options: A Review

Soft markers are sonographic structural, nonspecific signs with little pathological significance, often transient, usually considered as normal variants. However, they may also be associated with chromosomal abnormalities. The most widely examined soft markers include absent or hypoplastic nasal bone (NB), intracardiac echogenic focus (IEF), ventriculomegaly (VM), thickened nuchal fold (NF), choroid plexus cyst (CPC), echogenic bowel, short long bones, and urinary tract dilation (UTD). Although the use of noninvasive prenatal testing (NIPT) has been spreading quickly in maternal–fetal medicine, it is not a diagnostic test and it still remains unavailable or cost-prohibitive for most of the population in many countries. After normal screening test results in the first trimester, there is no uniform consensus regarding the clinical significance of isolated soft markers for aneuploidy. Nowadays, the search for soft markers in an ultrasound is still part of clinical evaluation, and the interpretation of these findings is often a matter of debate. In the present review, we summarize the recent literature about the role of soft markers in the era of NIPT and propose an overview of the different clinical guidelines.