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Fetal Ventriculomegaly
Society for Maternal-Fetal Medicine (SMFM); Mary E. Norton, MD; Nathan S. Fox, MD; Ana Monteagudo, MD;
Jeffrey A. Kuller, MD; and Sabrina Craigo, MD
Introduction
Fetal cerebral ventriculomegaly is defined as an atrial
diameter of 10 mm on prenatal ultrasound in the second
and third trimesters of pregnancy.1e3 The terms hydro-
cephalus and ventriculomegaly are often used inter-
changeably. More often, however, the term hydrocephalus
is used to describe pathologic dilation of the brain’s ven-
tricular system because of increased cerebrospinal fluid
(CSF) pressure, usually as a result of obstruction, and ven-
triculomegaly when the ventricles are mildly enlarged from
nonobstructive causes. Although mild fetal ven-
triculomegaly is often incidental and benign, it also can be
associated with genetic, structural, and neurocognitive
disorders, with outcomes that range from normal to severe
impairment.
Definition
Prenatally detected fetal ventriculomegaly is typically
categorized in 1 of 2 ways: mild (10e15 mm) or severe (>15
mm) or mild (10e12 mm), moderate (13e15 mm), or severe
(>15 mm).4,5
Ultrasound Findings
Ventriculomegaly is most often detected by ultrasonography
performed in the second or third trimester of pregnancy.
Assessment of the ventricles is an important component of
FIGURE 1
Appropriate measurement of the lateral cerebral ventricle
CSP, cavum septi pellucidi.
SMFM. SMFM Anomalies Consult Series #3. Am J Obstet Gynecol 2020.
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the standard second-trimester examination and includes
measurement of the atrium of the lateral ventricles (LVs). The
atrium of the LV is the part at which the body, posterior horn,
and temporal horn converge (Figure 1). It is important to
measure the LV correctly because small differences in tech-
nique can result in false-positive or false-negative results.
The atrium of the LV should be measured in the trans-
ventricular (axial) plane at the level demonstrating the frontal
horns and cavum septi pellucidi (CSP), in which the cerebral
hemispheres are symmetrical in appearance. The calipers
should be positioned on the internal margin of the medial
and lateral walls of the atria, at the level of the parietal-oc-
cipital groove and glomus of the choroid plexus, on an axis
perpendicular to the long axis of the LV (Figure 2; Box).6 The
atrial diameter remains stable between 15 and 40 weeks of
gestation, and ventriculomegaly generally cannot be diag-
nosed before 15 weeks of gestation.
When the lateral ventricle is dilated, the choroid plexus
falls toward the dependent ventricular wall and is referred to
as a “dangling choroid.”7 The choroid will generally take up
less than one-half of the CSF space when the ventricle is
dilated.8,9 These subjective findings should increase sus-
picion for ventriculomegaly but are not diagnostic.
When ventriculomegaly is detected, a comprehensive
examination of the central nervous system (CNS) should be
performed, including assessment of the third and fourth
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FIGURE 2
Fetus at 18 weeks of gestation with severe ventriculomegaly

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ventricles, midline falx, CSP, corpus callosum, thalami, Associated Abnormalities

germinal matrix region, cerebellum, cisterna magna, and
spine in addition to the lateral ventricles and choroid plexus.
A fetal neurosonogram or magnetic resonance imaging
(MRI) can be useful in identifying other CNS anomalies that
may be subtle. The examination should also include an
assessment for findings suggestive of fetal infection, such
as intracerebral and periventricular calcifications, hepatic
calcifications, hepatosplenomegaly, ascites, and
polyhydramnios.
Although mild fetal ventriculomegaly is often incidental and
benign, it can also be associated with genetic, structural,
and neurocognitive disorders. Associated abnormalities
include both CNS and non-CNS anomalies, genetic ab-
normalities, or congenital infection. The incidence of addi-
tional CNS and non-CNS ultrasonographic abnormalities
identified in fetuses with mild or moderate ventriculomegaly
ranges from 10% to 76% but appears to be <50% in most
studies.4e6,10

BOX
Criteria for appropriate measurement of lateral cerebral ventricle

1. The head is in the axial plane.

2. The image is magnified appropriately so that fetal head fills the most of the image.
3. The focal zone is at the appropriate level.
4. The cerebral ventricles are symmetrical in appearance.
5. The midline falx is imaged.
6. The atrium and occipital horn of the lateral ventricle (LV) are clearly imaged.
7. The atrium of the LV is measured at the level of the parietooccipital groove.
8. The calipers are placed on the medial and lateral walls of the atrium perpendicular to the long axis of the ventricle.

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Differential Diagnosis
The differential diagnosis of ventriculomegaly is extensive
and includes a normal variant and disorders associated with
severe impairment. Ventriculomegaly can be associated
with several underlying CNS abnormalities. Some structural
CNS anomalies, such as holoprosencephaly, hydranence-
phaly, porencephaly, or schizencephaly, and cystic lesions,
such as arachnoid cysts, result in abnormal fluid collections
in the fetal brain that may be misdiagnosed as ven-
triculomegaly, although these do not truly represent dilation
of the ventricular system.
Structural abnormalities that can lead to dilation or
enlargement of the lateral ventricles include agenesis of the
corpus callosum, Dandy-Walker malformation, neural tube
defects, cortical defects, and migrational abnormalities or
heterotopia. The most common cause of severe ven-
triculomegaly is aqueductal stenosis, which results from the
narrowing of the cerebral aqueduct of Sylvius located be-
tween the third and fourth ventricles, leading to progressive
dilation of the lateral and third ventricles.11 Aqueductal
stenosis can be genetic or can result from fibrosis sec-
ondary to fetal infection (eg, cytomegalovirus [CMV], toxo-
plasmosis, or Zika virus) or bleeding (eg, intraventricular
hemorrhage). In many cases, the cause of aqueductal ste-
nosis is unknown. Approximately 5% of cases of mild to
moderate ventriculomegaly are reported to result from
congenital fetal infections, and approximately 5% of fetuses
with apparently isolated mild to moderate ventriculomegaly
have an abnormal karyotype,12 most commonly trisomy 21.
Another 10% to 15% have abnormal findings on chromo-
somal microarray analysis (CMA).12e15
Genetic Evaluation
Diagnostic testing (amniocentesis) with CMA should be
offered when ventriculomegaly is detected. It is reasonable
to initially perform karyotype analysis or fluorescence in situ
hybridization, with reflex to CMA if these test results are
normal. If there are additional anomalies, consanguinity, or a
family history of a specific condition, gene panel testing or
exome sequencing is sometimes useful because CMA does
not detect single-gene (Mendelian) disorders. If there is a
family history that is consistent with an X-linked hydro-
cephalus and the fetus is male, specific testing for L1CAM
mutations should be considered.11 If exome sequencing is
pursued, appropriate pretest and posttest genetic coun-
seling by a provider experienced in the complexities of
genomic sequencing is recommended. After appropriate
counseling, cell-free DNA screening is an option for patients
who decline diagnostic evaluation as trisomy 21 is relatively
common.
Pregnancy and Delivery Management
Testing for CMV and toxoplasmosis is also suggested,
regardless of known exposure or symptoms. For women
with risk factors for Zika virus infection, testing is
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recommended per current guidelines. Finally, depending
on available local expertise, fetal MRI can be helpful,
depending on whether detailed neurosonography was
completed.
Prognosis
Ventricular measurements that are closer to 10 mm are more
likely to represent a normal variant, particularly when iso-
lated, and fetuses with a ventricular atrial diameter of 10 to
12 mm are found to have a normal postnatal evaluation in
more than 90% of cases.3 Mild ventriculomegaly is likely to
represent a normal variant if no other structural abnormal-
ities are noted and if aneuploidy screening or diagnostic
genetic testing results are normal. Approximately 7% to
10% of fetuses with apparently isolated mild ven-
triculomegaly are found to have other structural abnormal-
ities on examination after birth.4,14e16
Neurologic, motor, and cognitive impairments are more
likely when severe ventriculomegaly >15 mm is present. In
cases of severe ventriculomegaly, a meta-analysis reported
a survival rate of 88%, and only 42% of these children had
normal neurodevelopment.17
Summary
Ventriculomegaly is defined as dilation of the fetal cerebral
ventricles and is a relatively common finding on prenatal
ultrasound. When enlargement of the lateral ventricles (10
mm) is identified, a thorough evaluation is recommended,
including detailed ultrasonographic evaluation of fetal
anatomy, amniocentesis for karyotype analysis and CMA,
and a workup for fetal infection. In some cases, fetal MRI
may identify other CNS abnormalities and should be
considered when this technology and appropriate expert
interpretation is available. A follow-up ultrasound exami-
nation should be performed to assess for progression of the
ventricular dilation. In the setting of isolated ven-
triculomegaly of 10 to 12 mm, the likelihood of survival with
normal neurodevelopment is >90%; with ventriculomegaly
of 13 to 15 mm, the likelihood of normal neurodevelopment
is 75% to 93%. Obstetrical management and timing and
mode of delivery should be based on standard obstetrical
indications. n
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