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Ventriculomegaly

Ventriculomegaly is a medical condition characterized by the abnormal enlargement of the brain's ventricles, which are the fluid-filled cavities that contain (CSF). It is most commonly diagnosed prenatally in fetuses through , where it appears as a ventricular diameter of 10 mm or greater, and can range from mild (10-12 mm) to severe (≥15 mm or 16 mm depending on classification). This condition affects approximately 2 in 1,000 live births and often arises from disruptions in CSF production, circulation, or absorption, such as obstructions (e.g., ) or cerebral parenchymal loss. Associated factors include chromosomal abnormalities in 2%-12% of cases, congenital infections in about 5%, and structural malformations, though many instances occur sporadically without a clear genetic link. In fetuses, it is typically during but may progress to postnatally, leading to symptoms like an enlarged head, bulging , vomiting, or developmental delays if untreated. Diagnosis relies primarily on fetal ultrasound between 18 and 22 weeks of to measure atrial width, with follow-up imaging via fetal MRI to identify additional anomalies in up to 50% of cases and such as chromosomal to detect abnormalities in around 10% of instances. varies by severity: mild cases resolve spontaneously in many instances with normal neurodevelopment in over 90%, while severe ventriculomegaly carries higher risks of mortality (up to 67% non-survival) and neurodevelopmental impairment (over 90% affected). Management is generally conservative for mild or isolated cases, involving serial ultrasounds and postnatal monitoring, but intervention is required for progressive through procedures like ventriculoperitoneal shunting or endoscopic to divert excess CSF. Prenatal interventions, such as intrauterine shunting, are rare due to high complication rates but may be considered in select severe cases, with ongoing advances in and improving early detection and outcomes.

Definition and Classification

Definition

Ventriculomegaly refers to the abnormal enlargement of the , primarily the , characterized by an increase in the volume of these fluid-filled cavities due to accumulation of (CSF) or underlying . The form an interconnected system within the , consisting of two —one in each —a centrally located in the , and a in the . These structures house CSF, which is produced by the and circulates to provide mechanical support, nutrient transport, and waste removal for the ; the are particularly vital as the primary sites of CSF production and initial circulation pathways. In terms of basic , ventriculomegaly represents a descriptive finding of ventricular rather than a specific disease entity, and it is not always synonymous with , though the two can overlap. Unlike , which involves active CSF overproduction, impaired absorption, or obstruction leading to elevated , ventriculomegaly may arise passively from reduced brain parenchymal volume without pressure changes, potentially progressing to obstructive forms (due to CSF flow blockage) or non-obstructive variants (due to absorption deficits). The recognition of ventriculomegaly in emerged in the late and , coinciding with advancements in prenatal technology that enabled detailed imaging of fetal for the first time.

Ventriculomegaly is classified primarily by severity based on prenatal measurements of the atrial diameter of the lateral ventricle in the axial transventricular plane. Mild ventriculomegaly is defined as an atrial width of 10-12 mm, moderate as 13-15 mm, and severe as greater than 15 mm. These thresholds apply typically after 14 weeks of , when the diameter exceeds the 97th percentile for , with normal values ranging from approximately 4-8 mm in the second trimester. Subtypes of ventriculomegaly are distinguished by and , as well as . Unilateral ventriculomegaly involves enlargement of a single lateral ventricle, while bilateral affects both; symmetric cases show equivalent dilation on both sides (difference <2 mm), whereas asymmetric cases exhibit a discrepancy greater than 2 mm or isolated unilateral involvement. It is further subclassified etiologically as obstructive (e.g., due to CSF flow blockage like aqueductal stenosis), non-obstructive (e.g., due to impaired absorption or overproduction), or due to cerebral parenchymal loss. This classification aids in risk stratification, with clinical implications tied to severity and subtype. Mild cases, particularly isolated and symmetric, are frequently benign, with over 90% of affected individuals achieving normal neurodevelopment and low rates of associated anomalies. In contrast, moderate and severe ventriculomegaly, especially if asymmetric, unilateral, or progressive, are linked to higher morbidity, including increased risks of neurodevelopmental delay (up to 45% in severe isolated cases) and potential progression to hydrocephalus.

Causes and Pathophysiology

Isolated Causes

Isolated ventriculomegaly arises from mechanisms that enlarge the cerebral ventricles without concurrent structural brain anomalies or genetic disorders, primarily involving disruptions in dynamics during fetal development. In many instances, the etiology is idiopathic, characterized by a transient imbalance between CSF production and absorption, which leads to temporary ventricular dilation that often resolves spontaneously as the fetal brain matures. However, recent genetic analyses using high-throughput sequencing have identified pathogenic variants or copy number variations in over 50% of cases, including some previously considered idiopathic. This imbalance may stem from subtle physiological variations in CSF circulation, allowing excess fluid to accumulate briefly in the ventricles without causing long-term harm. Studies indicate that such cases frequently occur in the absence of identifiable triggers, highlighting the developmental nature of the condition. Developmental factors play a key role in these isolated occurrences, particularly delayed maturation of CSF absorption pathways. The arachnoid granulations, responsible for CSF reabsorption into the venous system, undergo progressive development in utero, and any lag in this process can result in mild, self-limiting ventriculomegaly. Similarly, minor aqueductal stenosis— a subtle narrowing of the cerebral aqueduct without full obstruction—can mildly impede CSF flow from the third to the fourth ventricle, contributing to isolated enlargement of the lateral ventricles. These developmental delays typically do not progress to severe hydrocephalus and are distinct from obstructive pathologies seen in associated conditions. Non-genetic maternal contributors, such as advanced maternal age or minor infections during pregnancy, have been linked to isolated ventriculomegaly without producing evident fetal anomalies. Advanced age may influence placental function or hormonal environments, subtly affecting brain fluid dynamics, while low-grade infections could transiently alter CSF production or barrier integrity. These factors underscore environmental influences on fetal CSF homeostasis. Mild isolated ventriculomegaly represents a significant proportion of all detected cases, with estimates indicating that up to 70-80% of mild instances lack associated abnormalities and carry a low risk of progression to more severe forms. The prenatal prevalence of mild ventriculomegaly overall is approximately 0.7 per 100 pregnancies, and isolated cases often exhibit favorable outcomes, with over 90% resulting in normal neurodevelopment.

Associated Pathologies

Ventriculomegaly frequently manifests as a secondary feature in various genetic and chromosomal disorders, where underlying developmental anomalies disrupt normal brain architecture and cerebrospinal fluid (CSF) dynamics. In (Down syndrome), ventriculomegaly arises from neuronal migration defects and subsequent brain parenchymal atrophy, often accompanied by other central nervous system (CNS) malformations such as cerebellar hypoplasia. Similarly, is associated with ventriculomegaly due to widespread dysgenesis, including reduced white matter volume and impaired cortical development, leading to enlarged ventricles from loss of surrounding brain tissue. The , a cerebellar vermis hypoplasia with cystic dilatation of the fourth ventricle, commonly presents with ventriculomegaly through mechanisms of obstructed CSF flow at the posterior fossa, exacerbating ventricular enlargement in over 80% of cases postnatally. Infectious etiologies, particularly congenital infections, contribute to ventriculomegaly by inducing inflammation and direct damage to the ependymal lining of the ventricles. Cytomegalovirus (CMV), the most prevalent congenital viral infection, causes ventriculomegaly through ependymitis and periventricular gliosis, often resulting in calcifications and disrupted CSF absorption; primary maternal CMV infection occurs in approximately 0.7-2% of pregnancies in developed countries (up to 4% in some populations), with transmission to the fetus in 30-40% of primary infection cases. Toxoplasmosis, another key TORCH infection, leads to ventriculomegaly via necrotizing encephalitis and hydrocephalus ex vacuo from parenchymal destruction, with ultrasound commonly revealing intracranial calcifications alongside ventricular dilation. These inflammatory processes impair ependymal integrity, promoting CSF accumulation and ventricular expansion. Structural brain and spinal anomalies often result in ventriculomegaly through obstructive hydrocephalus, where physical blockages hinder CSF circulation. Spina bifida, particularly when linked to , induces ventriculomegaly by caudal displacement of the cerebellar tonsils and tectal beaking, compressing the aqueduct and causing upstream ventricular dilation in nearly all affected cases. Aqueductal stenosis directly obstructs the cerebral aqueduct, leading to non-communicating hydrocephalus and progressive ventriculomegaly, accounting for 33-43% of fetal ventricular dilatations. , especially type II, similarly promotes impaired CSF flow at the foramen magnum, resulting in supratentorial ventriculomegaly secondary to fourth ventricle outlet obstruction. These pathways highlight how anatomical disruptions culminate in pressure gradients favoring ventricular enlargement. Beyond these categories, metabolic disorders and complications of monochorionic pregnancies represent additional associations. Zellweger syndrome, a peroxisomal biogenesis disorder, features ventriculomegaly due to neuronal migration abnormalities and cortical dysplasia, contributing to brain atrophy and enlarged ventricles amid polymicrogyria. In twin-to-twin transfusion syndrome (TTTS), the recipient twin often develops ventriculomegaly from chronic hypoperfusion and ischemic brain injury, mimicking patterns seen in congenital heart disease. Overall, approximately 20-30% of ventriculomegaly cases are linked to such underlying anomalies, with pathophysiological mechanisms centered on either brain parenchymal loss or disrupted CSF flow tailored to the specific pathology. Prognosis in these scenarios is closely tied to the severity of the primary condition.

Diagnosis

Prenatal Detection

Ventriculomegaly is primarily detected during routine prenatal ultrasound screening in the second trimester, typically between 18 and 22 weeks of gestation, as part of the standard fetal anatomy survey. The key measurement involves assessing the atrial diameter of the lateral ventricles in the transventricular plane at the level of the glomus of the choroid plexus, where a diameter of 10 mm or greater indicates ventriculomegaly. This approach allows for early identification, with a prevalence of approximately 1 in 100 fetuses on second-trimester ultrasound screening, though only about 1 in 1,000 progress to affect live births, and is recommended by the Society for Maternal-Fetal Medicine (SMFM) for all pregnancies undergoing anatomic ultrasound. If ultrasound reveals mild (10-12 mm) or moderate (13-15 mm) ventriculomegaly, advanced imaging with fetal (MRI) is often recommended to evaluate detailed brain anatomy and identify associated central nervous system anomalies that may be missed on ultrasound, such as cortical malformations or white matter injuries. Fetal MRI has a detection rate for additional abnormalities ranging from 5% to 50%, depending on the severity and expertise of interpretation, and is particularly useful after 18 weeks gestation when fetal brain structures are more discernible. Serial ultrasound scans are advised every 4 weeks to monitor progression, as per guidelines from the , to assess stability or worsening of ventricular dilation. The American College of Obstetricians and Gynecologists (ACOG) endorses routine second-trimester ultrasound for anomaly screening, aligning with SMFM protocols for follow-up in cases of suspected ventriculomegaly, emphasizing targeted neurosonography to rule out other structural defects. Detection accuracy exceeds 90% for mild cases on standard ultrasound, though false positives can occur due to technical factors such as suboptimal fetal position or operator variability, potentially leading to overdiagnosis in up to 30% of initial findings that later resolve. In instances where associated anomalies are suspected on imaging, invasive testing via amniocentesis is recommended for karyotyping and chromosomal microarray analysis to detect aneuploidies like trisomy 21, with additional polymerase chain reaction testing for infections such as cytomegalovirus if indicated.

Postnatal Evaluation

Following birth, the initial assessment of suspected ventriculomegaly in neonates typically involves cranial ultrasound performed through the open anterior fontanelle, which allows for rapid, non-invasive confirmation of ventricular enlargement and evaluation of periventricular structures. This modality is particularly suitable for bedside use in preterm infants and enables serial imaging to monitor progression without radiation exposure. If ultrasound findings suggest complexity or require further delineation of ventricular size and surrounding parenchyma, cranial computed tomography (CT) or magnetic resonance imaging (MRI) is pursued; MRI is generally preferred for its enhanced soft tissue contrast and ability to detect subtle anomalies such as cortical malformations or white matter changes. Advanced neuroimaging techniques, including diffusion tensor imaging (DTI) integrated into MRI protocols, provide quantitative assessment of white matter tract integrity, which can be altered in ventriculomegaly due to disrupted fiber organization or periventricular leukomalacia. DTI metrics, such as fractional anisotropy, help identify microstructural abnormalities that may correlate with neurodevelopmental risks, offering insights beyond conventional imaging. Genetic evaluation is indicated when ventriculomegaly is accompanied by dysmorphic features or other anomalies; chromosomal microarray analysis is the initial recommended test, detecting copy number variants in approximately 5-10% of cases, while whole-exome sequencing is reserved for negative microarray results to uncover single-gene mutations. Additionally, a targeted TORCH screen, focusing on cytomegalovirus and toxoplasmosis via polymerase chain reaction on urine or cerebrospinal fluid, is essential to exclude congenital infections as an underlying cause. Functional testing complements structural imaging; electroencephalography (EEG) is routinely performed to screen for seizures, which occur in a subset of neonates with , particularly those with associated . Early developmental screening using standardized tools like the establishes baseline cognitive and motor function, guiding subsequent monitoring. Differential diagnosis requires systematic exclusion of alternative etiologies, including (assessed via serial ultrasound or MRI), space-occupying lesions such as tumors (identified on contrast-enhanced MRI), and metabolic disorders (evaluated through serum amino acids, organic acids, and ammonia levels); if ventriculoperitoneal shunting is considered or infection persists, cerebrospinal fluid analysis for cell count, protein, glucose, and culture is performed to differentiate inflammatory or obstructive processes.

Clinical Presentation

Fetal Signs

Fetal ventriculomegaly is primarily identified through prenatal ultrasound imaging, where the key sign is the enlargement of the lateral cerebral ventricles, typically measured as an atrial diameter exceeding 10 mm in the axial transventricular plane during the second or third trimester. This dilation may appear bilateral or unilateral, with the choroid plexus often appearing to "dangle" within the enlarged space, and separation of the choroid plexus from the medial ventricular wall greater than 3 mm serving as an additional indicator. In some instances, increased periventricular echogenicity may be observed around the dilated ventricles, potentially signaling associated white matter changes or underlying pathologies, though this requires careful differentiation from normal variants. The condition is often asymptomatic in the fetus, with no direct impact on biophysical profile components such as heart rate reactivity or amniotic fluid volume unless progression leads to advanced hydrocephalus. Associated fetal anomalies visible on imaging include agenesis of the corpus callosum, which disrupts midline brain structures and often coexists with ventricular enlargement, and cerebellar hypoplasia, characterized by underdeveloped posterior fossa structures. These co-occurring signs are detected through detailed neurosonography, emphasizing the need for comprehensive anatomic surveys. Monitoring involves serial ultrasounds at regular intervals to track ventricular size trends and detect progressive dilation, which may indicate worsening prognosis if the atrial diameter increases beyond initial measurements. Such progression is a critical indicator, as stable mild dilation (10-12 mm) often resolves spontaneously, while advancement to moderate (12.1-15 mm) or severe (>15 mm) levels warrants further evaluation.

Postnatal Manifestations

Postnatal manifestations of ventriculomegaly in infants and children primarily arise when the condition is moderate to severe or progresses to , leading to increased and neurological compromise. Infants with mild cases often remain asymptomatic, but progression can result in visible physical signs such as due to rapid head growth and increased head circumference velocity exceeding the 97th percentile. A bulging and prominent scalp veins may also appear, reflecting accumulation. The "sunset eyes" sign, characterized by persistent downward gaze deviation, indicates brainstem compression from elevated pressure. Neurological symptoms are prominent and include developmental delays in motor and cognitive domains, with affected children often failing to meet age-appropriate milestones. Seizures occur in approximately 10-20% of moderate to severe cases, particularly those associated with shunted , and may present as focal or generalized events. Additional manifestations encompass or , irritability, poor feeding, and vomiting, especially when rises acutely. In neonates, and excessive sleepiness are common early indicators, while toddlers may exhibit delays in , such as walking beyond 18 months. These features underscore the condition's potential to disrupt normal development and function if untreated.

Management and Treatment

Prenatal Interventions

Prenatal of fetal ventriculomegaly primarily adopts a conservative approach, emphasizing serial monitoring to assess progression and multidisciplinary counseling to inform parental , particularly for isolated mild cases where expectant is recommended. According to the Society for Maternal-Fetal Medicine (SMFM), mild ventriculomegaly (10-12 mm atrial width) warrants detailed anatomic survey via , with follow-up to evaluate stability or resolution, as over 90% of such cases result in normal neurodevelopment when isolated. The International Society of in and Gynecology (ISUOG) guidelines similarly advocate for referral to a fetal specialist for advanced neurosonography, preferably transvaginal in the second , to exclude associated anomalies. Serial examinations are the cornerstone of monitoring, typically performed every 3-4 weeks to track ventricular dimensions and detect any progression toward moderate (13-15 mm) or severe (>15 mm) ventriculomegaly, which may alter . If initial suggests isolated mild ventriculomegaly, at least one additional scan in the early third trimester is advised to confirm resolution or stability, avoiding unnecessary interventions in low-risk scenarios. Fetal (MRI) is recommended around 24-28 weeks if findings are equivocal or additional anomalies are suspected, providing superior visualization of cortical development and integrity. This multimodal imaging strategy helps differentiate benign dilation from progressive , guiding further management without routine escalation in mild cases. Genetic counseling involves a multidisciplinary team, including perinatologists, geneticists, and pediatric neurologists, to discuss risks of chromosomal anomalies (approximately 5% in mild cases) and copy number variants (10-15%). Recent guidelines (as of 2025) recommend chromosomal microarray analysis (CMA) for all cases of fetal ventriculomegaly and consideration of whole exome sequencing (WES) in moderate to severe or non-isolated cases to detect additional genetic variants. with chromosomal microarray analysis is strongly recommended (GRADE 1B evidence) to identify aneuploidies like trisomy 21 or structural variants, enabling informed parental choices, including pregnancy termination in severe or syndromic cases. Maternal screening for infections such as (CMV) and via serology or PCR is also standard, with positive findings prompting targeted maternal therapies like for CMV to potentially mitigate fetal brain injury. ISUOG emphasizes empathetic, evidence-based counseling on outcomes, noting that isolated mild ventriculomegaly carries a low absolute risk (5-8%) of neurodevelopmental issues, primarily mild in severity. Experimental interventions are reserved for severe, progressive ventriculomegaly associated with , where intrauterine ventriculoamniotic shunting may be considered in specialized tertiary centers, though it carries significant risks including a 7% intraprocedural fetal and limited long-term data. Such procedures are not routinely offered due to high complication rates and are typically discussed only after exhaustive evaluation confirms no underlying correctable causes like . Delivery planning focuses on optimizing neonatal outcomes through timing based on and fetal stability, with cesarean section considered if complicates , though most cases proceed per standard obstetric indications. Multidisciplinary preparation involving neonatologists and neurosurgeons ensures immediate postnatal assessment, particularly for moderate to severe cases, to facilitate prompt intervention if persists. ISUOG guidelines for mild isolated ventriculomegaly support expectant management without altering delivery protocols unless new anomalies emerge on serial monitoring.

Postnatal Therapies

Postnatal therapies for ventriculomegaly primarily address progressive cases associated with , focusing on (CSF) diversion, symptom management, and complication prevention. Surgical interventions are indicated when ventriculomegaly leads to increased or neurological deterioration, as confirmed through postnatal imaging and clinical assessment. Ventriculoperitoneal (VP) shunting is the standard surgical treatment for progressive secondary to ventriculomegaly, involving the placement of a to drain excess CSF from the ventricles to the . However, it is associated with high rates of complications, including revisions in approximately 30% of cases within the first year. Endoscopic third ventriculostomy (ETV) serves as a shunt-free alternative in select obstructive etiologies, such as , by creating a in the third ventricle floor to facilitate CSF flow into the subarachnoid space. Medical management may be employed for mild ventriculomegaly with suspected CSF overproduction, using diuretics like and to reduce CSF secretion, though evidence for preventing shunt placement remains limited and is not routinely recommended for posthemorrhagic cases. In instances of infectious causes, such as contributing to ventriculomegaly, intravenous antibiotics are administered based on culture results to eradicate the infection and halt progression. Supportive care is essential for addressing associated developmental delays and comorbidities. Physical and occupational therapies help mitigate motor impairments and promote neurodevelopmental progress in affected infants. Anticonvulsants, such as or , are prescribed for control when manifests, which occurs in up to 30% of cases linked to ventriculomegaly. Nutritional support, including fortified feeds or supplemental nutrition, counters the high risk of wasting and growth faltering observed in infants with . Complication management is critical, particularly for shunted patients, with shunt infections occurring in 5-15% of pediatric cases, often necessitating removal and antibiotic therapy. Revisions due to obstruction or malfunction are common, affecting approximately 40% within the first year. Multidisciplinary follow-up involving , , and teams ensures timely intervention and monitoring. For stable mild ventriculomegaly without progression, a conservative approach with serial imaging and observation is preferred over active therapy.

Prognosis and Outcomes

Prognostic Factors

The prognosis of fetal ventriculomegaly is primarily influenced by its severity, with mild cases (atrial width 10-12 mm) showing favorable outcomes, particularly when isolated; meta-analyses indicate that over 90% of such cases result in normal neurodevelopment, and resolution occurs in approximately 40-50% . In contrast, severe ventriculomegaly (≥15 mm) carries a higher of progression to postnatal in 50-70% of cases, alongside neurologic, motor, and cognitive impairments in about 60% of survivors. The presence of associated anomalies significantly alters outcomes. Isolated ventriculomegaly is linked to a good , with neurodevelopmental issues occurring in only about 10% of cases, often mild. When associated with chromosomal abnormalities, such as trisomy 21, the prognosis aligns more closely with the underlying syndrome, where approximately 50% of affected individuals exhibit moderate to severe . Genetic testing, such as chromosomal microarray, detects abnormalities in 9-16% of cases, which can worsen if present. Additional prognostic determinants include at diagnosis, with earlier detection (e.g., before 24 weeks) correlating to worse outcomes due to potential underlying structural issues. Rapid progression of ventricular enlargement during also signals poorer prognosis, independent of initial severity. Prenatal MRI evaluation is crucial, as preservation of brain parenchyma without additional anomalies supports a better outlook, whereas detected parenchymal thinning or malformations indicates higher risk. Certain biomarkers provide further insight into . Abnormal ventricular indices, such as or ratios exceeding standard norms (e.g., >15 mm width), are associated with adverse outcomes. Overall, perinatal survival exceeds 95% in mild, isolated cases, though it varies markedly by —dropping to around 88% in severe or associated forms.

Long-term Follow-up

Long-term follow-up for individuals with ventriculomegaly focuses on vigilant monitoring to detect progression, manage complications, and support neurodevelopment, particularly in cases associated with or shunt placement. Structured protocols typically include serial neurodevelopmental assessments beginning around 6 months of age, with formal testing recommended for high-risk cases such as progressive or early-onset ventriculomegaly. is recommended as needed based on clinical symptoms or progression, alongside routine head circumference measurements at well-child visits per (AAP) guidelines. For those with ventriculoperitoneal shunts, lifelong checks for malfunction— including clinical evaluations for headache, vomiting, or lethargy—are essential, with follow-up visits scheduled 1–3 months post-placement and imaging at 6–12 months thereafter. AAP recommendations emphasize developmental surveillance at all health supervision visits to identify delays early. Chronic effects of ventriculomegaly often manifest as neurodevelopmental challenges, with isolated mild cases (ventricular atrial diameter ≤15 mm) showing a 7.9% of delay, primarily in , fine and , and global . In more severe or non-isolated cases, rates rise to approximately 45%, encompassing motor deficits like coordination impairments and behavioral problems such as attention-deficit/hyperactivity disorder traits. Shunt-related endocrine issues, including hormone imbalances like or due to hypothalamic-pituitary axis disruption, affect up to 20–30% of children with , necessitating endocrinologic monitoring. These issues can persist into adulthood, contributing to learning disabilities that require ongoing al support, such as individualized education plans. Quality of life considerations extend into adulthood, where severe ventriculomegaly or longstanding overt ventriculomegaly (LOVA) correlates with cognitive deficits, reduced independence, and employment challenges, with unemployment rates higher among those with childhood hydrocephalus compared to the general population. Transition to adult neurology care is recommended for lifelong management, focusing on shunt surveillance and neuropsychological evaluations to mitigate progressive impairments. As of 2025, recent studies highlight improved outcomes with early intervention, including timely shunting and developmental therapies, which enhance motor and cognitive function and reduce neurodevelopmental disability risks by facilitating better long-term adaptation.

Epidemiology

Incidence Rates

Ventriculomegaly occurs in approximately 0.3 to 1.5 per 1,000 pregnancies and is detected in about 1% of routine second- and third-trimester obstetric ultrasounds. Among diagnosed cases, the majority are mild, accounting for 70-80% of instances, while moderate cases represent around 10-20% and severe cases less than 10%. Detection rates have risen since the early , attributed to advancements in resolution and routine screening practices, though the underlying true incidence appears stable. In low-resource settings, particularly those with higher prevalence of congenital infections like , the incidence is elevated compared to high-income regions, contributing to greater overall occurrence. Meta-analyses, including a review of prenatal outcomes, confirm these incidence patterns across large cohorts, with consistent in isolated and non-isolated cases.

Demographic Patterns

Ventriculomegaly, particularly in its congenital form, predominantly affects fetuses and is typically diagnosed during the second of , with a mean at detection around 20-29 weeks. The condition shows a slight male predominance, with male-to-female ratios ranging from 1:0.44 to 1:0.94 across multiple studies, indicating approximately 1.5 to 2.3 times higher incidence in males compared to females. Data on ethnic variations are limited and inconsistently reported, but available studies primarily involve populations, comprising about 77% of cases in one cohort, with smaller proportions of African American (around 20%) and Asian individuals (less than 5%); no significant ethnic disparities in prevalence have been established. Geographically, detection rates are higher in high-income countries with routine prenatal screening, such as the , , and European nations, where prevalence is estimated at 0.3-1.5 per 1,000 births; in contrast, underdiagnosis is likely in low-resource settings due to limited access to imaging, leading to apparent lower reported incidences. In regions like , prenatal diagnosis rates increased from 1:7,000 in 2002 to 1:1,750 in 2010, reflecting improvements in screening practices rather than true epidemiological shifts. Postnatally, ventriculomegaly manifests more frequently in premature infants, particularly those born before weeks , and is associated with conditions like , but demographic patterns mirror prenatal trends with male bias and no clear ethnic differences. In older children and adults, acquired forms linked to or show no strong sex or ethnic predilections, though age-related enlargement becomes prevalent after 60 years in the general population.

References

  1. [1]
    Ventriculomegaly: Causes, Symptoms, Diagnosis & Treatment
    Aug 29, 2023 · Ventriculomegaly is a condition where a fetus's ventricles (fluid-filled spaced in your brain) are larger than usual.Missing: reliable sources
  2. [2]
    Fetal Ventriculomegaly: A Review of Literature - PMC
    Feb 18, 2022 · Fetal ventriculomegaly refers to ventricular enlargement that is diagnosed prenatally. It is one of the most common fetal anomalies.
  3. [3]
    Ventriculomegaly: Symptoms, Cause, Diagnosis and Treatment
    Ventriculomegaly is a condition in which the brain ventricles, or fluid-filled cavities, are enlarged due to build up of cerebrospinal fluid (CSF).Missing: reliable | Show results with:reliable
  4. [4]
    Neuroanatomy, Ventricular System - StatPearls - NCBI Bookshelf - NIH
    The cerebral ventricular system is made up of 4 ventricles that include 2 lateral ventricles (1 in each cerebral hemisphere), the third ventricle in the ...
  5. [5]
    The Ventricular System - Neuroscience - NCBI Bookshelf - NIH
    The cerebral ventricles are a series of interconnected, fluid-filled spaces that lie in the core of the forebrain and brainstem (Figure 1.17).
  6. [6]
    Ventricular system | Radiology Reference Article - Radiopaedia.org
    Jul 23, 2025 · The ventricular system in the brain is a series of interconnecting spaces and channels within the brain composed of cerebrospinal fluid (CSF).Brain ventricle anatomy... · Third ventricle · Lateral ventricle · Question 680
  7. [7]
    Hydrocephalus | Children's Hospital of Philadelphia
    It is important to distinguish hydrocephalus from ventricular enlargement or ventriculomegaly, which can also be caused by brain destruction and morphological ...
  8. [8]
    Fetal Ventriculomegaly and Hydrocephalus – What Shouldn't...
    Although fetal ventriculomegaly can progress to postnatal hydrocephalus, it can also be due to acquired or intrinsically decreased cerebral volume in the ...
  9. [9]
    Ventriculomegaly | Radiology Reference Article | Radiopaedia.org
    Dec 10, 2015 · Ventriculomegaly is defined as enlargement of the ventricles. Simply, there are two causes: hydrocephalus · communicating · non-communicating.Hydrocephalus · Cerebral atrophy · Communicating hydrocephalus<|control11|><|separator|>
  10. [10]
    Ultrasonic Measurement of the Fetal Ventricular SystemRadiology
    The ventricular systems of 178 fetal heads, ranging from 13 weeks gestation to term, were examined with ultrasonic “B” scans.
  11. [11]
    Expert consensus on fetal ventriculomegaly: evidence-based ...
    Oct 16, 2025 · Ventriculomegaly is typically classified as mild (10–12 mm), moderate (13–15 mm), and severe (≥15 mm) to enhance prognostic clarity (7, 13). ...
  12. [12]
    Reference ranges for fetal ventricular width: a non‐normal approach
    Jun 22, 2007 · Second, it demonstrates that the usual 10-mm cut-off for fetal ventricular size is likely to select 1% of all fetuses, a much higher proportion ...<|control11|><|separator|>
  13. [13]
    Fetal cerebral ventriculomegaly: What do we tell the prospective ...
    Fetal cerebral ventriculomegaly is a relatively common finding, observed during approximately 1% of obstetric ultrasounds.
  14. [14]
    Prenatal Ventriculomegaly – Diagnosis, Prognostication and...
    “Symmetric VM” refers to bilateral dilatation with a difference in AD <2 mm while “asymmetric VM” implies either unilateral VM with a normal contralateral ...Missing: acquired | Show results with:acquired
  15. [15]
    Ventriculomegaly - The Fetal Medicine Foundation
    Bilateral or unilateral dilation of the lateral cerebral ventricles observed in the standard transverse section of the brain. Subdivided according to the ...
  16. [16]
    Ventriculomegaly | Conditions - UCSF Benioff Children's Hospitals
    Ventriculomegaly is a condition in which the lateral ventricles (fluid-filled spaces in the brain) are larger than normal.Missing: definition | Show results with:definition
  17. [17]
    Learn about a Ventriculomegaly Diagnosis during Pregnancy
    In many fetuses, particularly those with borderline ventriculomegaly, the condition will resolve spontaneously resulting in a normal outcome. The major ...Missing: transient | Show results with:transient
  18. [18]
    Benign external hydrocephalus: a review, with emphasis on ...
    Jun 7, 2011 · The term arrested hydrocephalus is associated with this theory; some suggest that there may be a difference between the delayed maturation of ...
  19. [19]
    The function and structure of the cerebrospinal fluid outflow system
    Jun 21, 2010 · They are properly called arachnoid granulations or Pacchionian bodies at this stage. It has been proposed that maturity and increasing the ...
  20. [20]
    Isolated Fetal Ventriculomegaly: Diagnosis and Treatment in ... - MDPI
    Aug 8, 2024 · The causes of congenital VM include a narrowing of the aqueduct of Sylvius, known as aqueductal stenosis (AS), porencephalic cysts, ...
  21. [21]
    Prenatal Mild Ventriculomegaly Predicts Abnormal Development of ...
    Little is known about the causes of isolated MVM, though it is associated with older maternal age and lower gestational age at birth (6), and high levels of ...Mr Image Acquisition · Figure 2 · Figure 3
  22. [22]
    Fetal cerebral ventriculomegaly: What do we tell the prospective ...
    Nov 12, 2022 · Fetal cerebral ventriculomegaly is a relatively common finding, observed during approximately 1% of obstetric ultrasounds.Missing: diameter | Show results with:diameter
  23. [23]
    Isolated Fetal Ventriculomegaly- Postnatal Outcomes and Proposed ...
    Gabor et al. have reported 22% association of maternal infection with ventriculomegaly while the association was 28% in the study conducted by Jansen J.
  24. [24]
    Neurodevelopmental outcome in isolated mild fetal ...
    Mar 12, 2014 · The prevalence of mild ventriculomegaly, based on current criteria, is estimated to be around 0.7%3. Clinically, ventriculomegaly is defined as ...
  25. [25]
    Mild fetal ventriculomegaly: diagnosis, evaluation, and management
    Prenatally detected fetal ventriculomegaly is typically categorized in 1 of 2 ways: mild (10–15 mm) or severe (>15 mm); or as mild (10–12 mm), moderate (13–15 ...Missing: implications | Show results with:implications
  26. [26]
    Isolated mild fetal cerebral ventriculomegaly: clinical course and ...
    Twenty-two (79%) of the 28 children are developing normally, whereas six (21%) are developmentally delayed. More than 90% of fetuses with ventricular atrial ...
  27. [27]
    Dandy-Walker Malformation - StatPearls - NCBI Bookshelf - NIH
    Nov 12, 2023 · This posterior fossa anomaly is characterized by agenesis or hypoplasia of the vermis and cystic enlargement of the fourth ventricle, causing ...
  28. [28]
    Congenital Cytomegalovirus Infection - StatPearls - NCBI Bookshelf
    Aug 2, 2025 · Cytomegalovirus (CMV) infection is the most common congenital infection worldwide and the leading cause of nonhereditary sensorineural hearing ...
  29. [29]
    Congenital Toxoplasmosis: The State of the Art - Frontiers
    The main ultrasound findings associated with congenital toxoplasmosis are ventriculomegaly and intracranial calcifications. Prognosis of isolated fetal ...
  30. [30]
    Spina Bifida Hydrocephalus and Shunts - Medscape Reference
    May 16, 2023 · Hydrocephalus is defined as excess cerebrospinal fluid (CSF) accumulation in the head caused by a disturbance of formation, flow, or absorption.<|separator|>
  31. [31]
    [PDF] Fetal Cerebral Ventriculomegaly: Sonographic Diagnostic Workup
    In a series of 279 cases with isolated ventriculomegaly, 175 (63%) survived; after shunting procedure. 111 (63%) were normal, the remainder having mild to ...Missing: prevalence | Show results with:prevalence
  32. [32]
    Chiari 2 malformation | Radiology Reference Article | Radiopaedia.org
    Jun 22, 2025 · Chiari 2 (Chiari II) malformations are relatively common congenital malformations of the spine and posterior fossa characterized by myelomeningocele.
  33. [33]
    Altered Fetal Cerebral and Cerebellar Development in Twin-Twin ...
    We hypothesize that in TTTS, the ventriculomegaly is due to global factors such as systemic hypoperfusion similar to that observed in fetuses with congenital ...Missing: Zellweger | Show results with:Zellweger
  34. [34]
    Guidelines for Diagnostic Imaging During Pregnancy and Lactation
    Ultrasound imaging should be performed efficiently and only when clinically indicated to minimize fetal exposure risk using the keeping acoustic output ...
  35. [35]
    Natural history and outcome of prenatally detected mild cerebral ...
    Thus in 112 cases either the VM resolved before the referral scan or the initial finding was a false positive. 228 (44%) of confirmed cases had an associated ...Missing: position | Show results with:position
  36. [36]
    Routine Neuroimaging of the Preterm Brain - AAP Publications
    Nov 1, 2020 · Routine cranial ultrasonographic screening is recommended by 7 to 10 days of age for infants born at ≤30 weeks' gestational age. Screening ...Introduction · Repeat Brain Imaging · Standard Cranial Ultrasound... · References
  37. [37]
    Cranial ultrasound for beginners - PMC - PubMed Central - NIH
    The optimal time for scanning is approximately 72 hours after birth (3). All children at risk should have an ultrasound by 7 to 10 days of age and repeat ...
  38. [38]
    White matter changes in fetal brains with ventriculomegaly - Frontiers
    Ventriculomegaly can be caused by impaired cerebral spinal fluid circulation, or it may be the result of other primary brain malformations, destructive ...
  39. [39]
    Diffusion MRI Microstructural Abnormalities at Term-Equivalent Age ...
    Aug 1, 2021 · We identified widespread microstructural white matter abnormalities in very preterm infants at term that were significantly associated with cognitive and motor ...
  40. [40]
    The utility of infection screening in isolated mild ventriculomegaly
    When this diagnosis occurs, tests could be limited to cytomegalovirus and parvovirus B19, whereas a complete TORCH screening is probably not necessary.
  41. [41]
    Seizures in preterm infants with germinal-matrix-intraventricular ...
    Seizures were diagnosed based on clinical manifestations and abnormal EEG findings. Infants were grouped by the presence or absence of seizures, and associated ...
  42. [42]
    Neurodevelopmental outcome of fetuses referred for ventriculomegaly
    Jan 12, 2010 · Of the 143 fetuses followed postnatally, between 41% and 61% had a Bayley Scales of Infant Development (BSID-II) psychomotor developmental index ...
  43. [43]
    Differential Diagnosis of Echogenic Lesions at Neonatal Head US
    On US images, grade 1 GMH has globular increased echogenicity in the region of the caudothalamic groove and can be unilateral or bilateral and symmetric or ...
  44. [44]
    Pro-inflammatory cerebrospinal fluid profile of neonates with ...
    Feb 21, 2024 · Pro-inflammatory cerebrospinal fluid profile of neonates with intraventricular hemorrhage: clinical relevance and contrast with CNS infection.Csf Cell Counts · Csf Protein Levels · Csf Glucose Levels
  45. [45]
    Fetal ventriculomegaly | Radiology Reference Article
    Ultrasound · mild/borderline fetal ventriculomegaly: lateral ventricular diameter between 10-12 mm · moderate fetal ventriculomegaly: 12.1-15 mm · severe fetal ...
  46. [46]
  47. [47]
    Pediatric Ventriculomegaly - Conditions and Treatments
    Pediatric ventriculomegaly is a condition in which a fetus's brain ventricles (cavities) are abnormally enlarged. Learn more about this condition.Missing: postnatal | Show results with:postnatal
  48. [48]
    Ventriculomegaly | Boston Children's Hospital
    Ventriculomegaly is a condition in which the ventricles appear larger than normal on a prenatal ultrasound. This can occur when CSF becomes trapped in the ...Missing: reliable | Show results with:reliable
  49. [49]
    Ventriculomegaly - Children's Hospital Colorado
    Some known causes of ventriculomegaly during pregnancy include: Imbalances with CSF fluid circulation and absorption; Differences with brain development in ...
  50. [50]
    Essential Facts About Epilepsy and Hydrocephalus
    Epilepsy is common in people with hydrocephalus. Of individuals with shunted hydrocephalus, an estimated 20% have epilepsy.
  51. [51]
    Pediatric ventriculomegaly– Children's Health Neurology
    What are the signs and symptoms of pediatric ventriculomegaly? · Abnormally full fontanel · Abnormally rapid head growth · Developmental delays · Distended scalp ...
  52. [52]
    Ventriculomegaly - UCSF Fetal Treatment Center
    Ventriculomegaly is when the fluid filled structures in the brain are too large. When you are pregnant you will have an ultrasound.Missing: reliable | Show results with:reliable
  53. [53]
  54. [54]
    Counseling in fetal medicine: update on mild and moderate fetal ...
    May 19, 2023 · Fetal ventriculomegaly (VM) is the most common central nervous system (CNS) anomaly diagnosed antenatally. VM is not a specific disease, ...
  55. [55]
    Ventriculomegaly - ISUOG
    This leaflet is to help you understand what Ventriculomegaly is, what tests you need, and the implication of having been diagnosed with Ventriculomegaly for ...Missing: prenatal | Show results with:prenatal
  56. [56]
    Outcomes of Ventriculoperitoneal Shunt in Patients With Idiopathic ...
    Currently, the ventriculoperitoneal shunt is a commonly used shunt configuration, with a success rate of up to 80% (8–10). The use of adjustable valves enables ...
  57. [57]
    Endoscopic third ventriculostomy - PMC - PubMed Central - NIH
    Endoscopic third ventriculostomy (ETV) is considered as a treatment of choice for obstructive hydrocephalus. It is indicated in hydrocephalus secondary to ...
  58. [58]
    Nonsurgical therapy for hydrocephalus: a comprehensive and ...
    Furosemide/acetazolamide combination in hydrocephalic children. Furosemide is a diuretic agent that inhibits the Na–K–2Cl symporter located in the distal ...
  59. [59]
    Risk Factors for Pediatric Ventriculoperitoneal Shunt Infection and ...
    Insertion of a VP shunt in a premature neonate was associated with a nearly 5-fold increase in the risk of shunt infection (P <. 01).
  60. [60]
    Ventriculomegaly - Causes, Symptoms, Diagnosis, and Treatment
    Apr 25, 2025 · Alternative Therapies: Physical therapy, occupational therapy, and speech therapy may be beneficial for individuals experiencing developmental ...
  61. [61]
    Motor Abnormalities and Epilepsy in Infants and Children With ...
    Feb 1, 2018 · A noncontrast CT scan of the brain (axial section) reveals ventriculomegaly (shown by the “v”) and subcortical calcifications (the small arrow).
  62. [62]
    High burden of wasting among children under-five with ... - NIH
    Jan 17, 2024 · Children with hydrocephalus often have imbalanced energy intake, gastrointestinal problems and therefore are susceptible to nutritional ...
  63. [63]
    Ventriculoperitoneal Shunts: What General Pediatricians Should Know
    Jul 1, 2025 · Common complications of shunts can include malfunction or infection, which may present with different signs and symptoms. (Based on observation, ...Csf Shunts: Underdrainage · Csf Shunts: Infection · Csf Shunts: Overdrainage
  64. [64]
    Fetal cerebral ventriculomegaly: What do we tell the prospective ...
    Nov 12, 2022 · Mild ventriculomegaly is diagnosed when the ventricle is less than 15 mm and severe when the ventricle is equal to or larger than 15 mm.Missing: sources | Show results with:sources
  65. [65]
  66. [66]
  67. [67]
    Down syndrome - Symptoms and causes - Mayo Clinic
    Nov 12, 2024 · Most children with Down syndrome have mild to moderate cognitive impairment. ... About 95% of the time, Down syndrome is caused by trisomy 21.
  68. [68]
    Hydrocephalus | Pediatric Care Online - AAP Publications
    Sep 27, 2023 · Adult survivors of childhood hydrocephalus require lifelong follow-up. Many patients require shunt surgery during adulthood. Fewer than 4 ...Foundation · Diagnosis · Ongoing Care
  69. [69]
    Pediatric Hydrocephalus: Current State of Diagnosis and Treatment
    Nov 1, 2016 · The children are typically seen by neurosurgeons 1 to 3 months after initial shunt placement and imaged at a 6- to 12-month follow-up ...Etiology, Diagnosis, And... · Signs And Symptoms · Outcomes
  70. [70]
    Discharge of Medically Complex Infants and Developmental Follow-up
    Jun 1, 2021 · The AAP recommends that routine developmental surveillance should be performed by the PCP at all health supervision visits for all infants, and ...Feeding And Nutrition · Neurologic · Neurodevelopment
  71. [71]
    Complications of Long-Term Management of Hydrocephalus in ...
    Apr 8, 2024 · General Shunt Complications. Endocrine sequelae and infertility. Many children experience endocrine problems related to hydrocephalus.<|separator|>
  72. [72]
    Short-Term and Long-Term Outcomes of Fetal Ventriculomegaly ...
    Jan 30, 2023 · Factors associated with long-term prognosis of live birth VM fetuses. Factor, VM with Normal Neurodevelopment (n = 153), VM with Abnormal ...
  73. [73]
    Natural history of ventriculomegaly in adults: a cluster analysis in
    Feb 8, 2019 · Patients with ventriculomegaly commonly have a perinatal event followed by one of four main presentations: 1) incidental ventriculomegaly with ...
  74. [74]
    Clinical Outcome and Risk Factors for Progression of Prenatally ...
    May 19, 2025 · The prognosis of the fetus depends on several factors, such as the presence of associated anomalies, uni- or bilateral involvement of the ...
  75. [75]
    Pregnancy outcomes and genetic analysis for fetal ventriculomegaly
    Sep 15, 2023 · Fetal ventriculomegaly (VM) is associated with neurodevelopmental disorders, partly caused by genetic factor.
  76. [76]
    Prenatal findings and associated survival rates in fetal ...
    Apr 3, 2022 · Initial ultrasound assessment reported isolated ventriculomegaly in 45.5% fetuses, with additional structural abnormalities in 54.5%. The rate ...
  77. [77]
    Birth prevalence and characteristics of congenital cytomegalovirus ...
    Jun 14, 2019 · The prevalence of congenital cytomegalovirus (CMV) infection in Jakarta, Indonesia, was 5.8%. These congenitally CMV infected newborns were more likely to have ...
  78. [78]
    Deep dive into fetal ventriculomegaly - Contemporary OB/GYN
    Feb 10, 2025 · Isolated mild ventriculomegaly is usually a normal variant and is associated with normal neurological outcomes. Isolated moderate ...Missing: implications | Show results with:implications<|control11|><|separator|>
  79. [79]
    Perinatal and neurodevelopmental outcomes of fetal isolated ...
    Apr 29, 2024 · The implications of these findings indicate that infants with mild isolated ventriculomegaly have better outcomes compared to those with severe ...
  80. [80]
    Prenatal Isolated Mild Ventriculomegaly is Associated with ...
    Mar 22, 2012 · MVM has been linked to older maternal age and lower gestational age at birth, both of which have also been associated with higher risk for ...Missing: dehydration | Show results with:dehydration
  81. [81]
    Prenatal ventriculomegaly: natural course, survival, and ...
    Mar 5, 2021 · Prenatal ventriculomegaly is classified based on the lateral ventricular diameter as mild (10–12 mm), moderate (12–15 mm), or severe (> 15 mm).
  82. [82]
    A review of cases managed expectantly in an Irish tertiary Centre
    Aug 7, 2025 · Results: In 2002, ventriculomegaly was diagnosed prenatally in 1:7000 foetuses; the incidence increased to 1:1750 in 2010. In 33 (51%) of 65 ...
  83. [83]
    Outcomes in Premature Neonates With Ventriculomegaly but Not ...
    Nov 27, 2017 · Nonhemorrhagic ventriculomegaly is a marker of brain injury and might be associated with early neurodevelopmental risk among extremely preterm neonates.
  84. [84]
    Ventricular and Periventricular Anomalies in the Aging and ...
    Ventriculomegaly (expansion of the brain's fluid-filled ventricles), a condition commonly found in the aging brain, results in areas of gliosis where the ...Missing: sources | Show results with:sources