Fetal hydrocephalus

Abstract

The aim of this study was to draw the attention of specialists faced with fetal hydrocephalus in the postnatal period to the possibilities of prenatal diagnosis and further monitoring by studying isolated and syndrome cases in fetuses. One hundred and nine fetuses from a total of 2238 autopsies were the subject of observation in this study. In 64 (58.7%) of the studied fetuses, isolated hydrocephalus was found, while the other 45 cases were associated with the following malformations: Arnold-Chiari type II, Dandy-Walker, stenosis of the aqueductus sylvii, agenesis of corpus callosum (partial and total) and numerical chromosomal aberrations such as trisomy 13, 15 and 18. In cases of isolated hydrocephalus and a stable condition of the fetus, it is possible to wait until the term, or to induce labor without danger to the child, followed by a shunting intervention.

Full text

Pteridines 2014; 25(3-4): 65–68
Tanya Kitova*, Borislav Kitov, Denis Milkov, Nahed Ben Cheikh and Soumeya Gaigi
Fetal hydrocephalus
Abstract: The aim of this study was to draw the attention
of specialists faced with fetal hydrocephalus in the post-
natal period to the possibilities of prenatal diagnosis and
further monitoring by studying isolated and syndrome
cases in fetuses. One hundred and nine fetuses from a
total of 2238 autopsies were the subject of observation in
this study. In 64 (58.7%) of the studied fetuses, isolated
hydrocephalus was found, while the other 45 cases were
associated with the following malformations: Arnold-
Chiari type II, Dandy-Walker, stenosis of the aqueductus
sylvii, agenesis of corpus callosum (partial and total) and
numerical chromosomal aberrations such as trisomy 13,
15 and 18. In cases of isolated hydrocephalus and a stable
condition of the fetus, it is possible to wait until the term,
or to induce labor without danger to the child, followed by
a shunting intervention.
Keywords: Arnold-Chiari type II; Dandy-Walker; hydro-
cephalus; stenosis of the aqueductus sylvii.
DOI 10.1515/pterid-2014-0007
Received May 26, 2014; accepted July 16, 2014
Introduction
Congenital hydrocephalus is caused by a complex of
neurological disturbances that increase the amount of
cerebrospinal fluid in, and the size of, the ventricles of
the brain and/or in the subarachnoid space [1]. A strong
correlation exists between the biochemical mechanisms
of the foliate metabolism and the development of the
nervous system. An abnormal foliate concentration could
be the cause for hydrocephalus [2]. According to Garne
et al. [3], the incidence of congenital hydrocephalus is
1–4.65 for every 10,000 newborns and is the most common
neurological diagnosis in children, representing one third
of all congenital abnormalities of the nervous system.
The dilatation of the ventricular system is the result of a
pathology in the production, absorption or circulation
of the cerebrospinal fluid, leading to an increase in the
intracranial pressure. The pathophysiology of the lesion
affects the degree of expansion of the ventricles and the
prospects for their treatment [4].
At present, there is no generally accepted classifica-
tion of the types of hydrocephalus. The different types of
classifications are based on the age of debut, dynamics
and location of the accumulation of cerebrospinal fluid,
intracranial pressure and clinical symptoms [5, 6].
The causes of infant hydrocephalus vary with the age
of debut of the disease, and the most common include
congenital malformations, intraventricular hemorrhages,
neoplasms, infections and others [7–9].
Nowadays, congenital hydrocephalus is diagnosed by
intrauterine ultrasound and genetic testing or after birth
based on the clinical signs, supplemented by a sonography,
computed tomography (CT) scan or magnetic resonance
imaging (MRI) [7]. The presence of ventriculomegaly is pos-
sible when the transverse diameter of the cornu occipitale,
behind the plexus choroideus, is > 10mm (normal 6.7 ± 1.12
mm) during the prenatal ultrasound performed during the
12th, 22nd and 32nd week. After the 23rd gestational week,
when two successive measurements of the ratio between the
ventricles and hemispheres increase more than twice, the
presence of an abnormal increase in the ventricular system
is possible. Prenatal ultrasound can identify dilatation of
the ventricular system, but not the extent of the intracranial
pressure. Therefore, CT and MRI have an important role in
both the diagnosis and the assessment of therapeutic effi-
cacy and in the monitoring of the disease [10].
The aim of the study was to study isolated and syn-
drome hydrocephalus in fetuses to draw the attention of
specialists faced with the disease in the postnatal period
to the possibilities of prenatal diagnosis and further
monitoring.
Materials and methods
One hundred and nine fetuses were observed in this study from a total
of 2238 autopsies performed during a period of 3years (2006–2009)
at the Clinic of Fetopathology, Center of Maternity and Neonatology,
*Corresponding author: Tanya Kitova, Department of Anatomy,
Histology and Embryology, Medical University Plovdiv, Vasil Aprilov
Str. 15A, Plovdiv, 4002, Bulgaria, E-mail: tanyakitova@yahoo.com
Borislav Kitov: Department of Neurosurgery, Medical University
Plovdiv, Plovdiv, Bulgaria
Denis Milkov: Medical University Plovdiv, Plovdiv, Bulgaria
Nahed Ben Cheikh and Soumeya Gaigi: Clinic of Fetopathology,
Center for Maternity and Neonatology, Tunis, Tunisia

66 Kitova etal.: Fetal hydrocephalus
Tunis, Tunisia. The monitored cases were individual fetuses from
pregnancies that were interrupted due to medical reasons, intrau-
terine fetal death, spontaneous abortion and neonatal death;
authorization from the ethics committee of the Center for Maternity
and Neonatology, Tunis was obtained to perform autopsy on these
fetuses, in accordance with genetic testing and biopsy examination
guidelines. Supporting documents for each case were ultrasound
results and research from the medical records of the Clinic of Neo-
natology and the Clinic of Obstetrics and Gynecology at the Center
for Maternity and Neonatology. The full set of data available for each
case (fetus) were collected in a personal le that included photo-
graphic documentation, radiographs, karyotyping, fetal biometry,
and documentary information from the autopsy of fetuses obtained
from visual inspection and from microscopic examination of the
internal cavities and internal organs, thoracic situs, abdominal situs,
pelvic cavity and retroperitoneal compartment.
The cranial cavity and the encephalon were examined aer xa-
tion with 40% formalin for a period of 1–6 months.
The autopsy results were recorded in the les in three stages:
rst, from the macroscopic autopsy; second, from the microscopic
results of the biopsy fragments; and third, from the macro- and
microscopic brain examination.
The data were statistically analyzed using the program SPSS
version 17 (IBM Corporation, Armonk, NY, USA).
Results
Of the 109 cases with hydrocephalus, 70 were communica-
tive and 39 were obstructive.
Gender
The gender distribution was 58 male and 51 female fetuses.
Consanguinity
Presence of consanguinity was found in 23 (21%) of the
fetuses. The remaining 86 cases (79%) were not the result
of consanguineous unions.
Age of mothers
The number of mothers younger than 30years was 54,
those aged between 31 and 37years was 37 and those older
than 37years was 18.
Term pregnancy
All cases were diagnosed after the 23rd gestational week,
and in 76 cases (69.7%), the diagnosis was placed before
the 27th gestational week, while the remaining 33 cases
(30.3%) were diagnosed after the 28th gestational week.
Method of termination of pregnancy
Fifty-six cases necessitated termination of pregnancy
for medical reasons, 21 fetuses were the result of miscar-
riages, 4 were caused by intrauterine fetal death and 28
were caused by prenatal death.
The pathologic diagnosis in all 109 fetuses found ven-
triculomegaly and cornu posterior of the lateral ventricle
with a width larger than 10 mm. In 39 of the fetuses, an
intraventricular hemorrhage was found, leading to an
obstructive type of hydrocephalus.
The biometric study showed a deviation from the
standard sizes for head circumference in 97 fetuses, 89
being macrocrania and 8 microcrania.
The prenatal diagnosis in 28 cases was not placed.
Hydrocephalus was diagnosed in 51 cases; Dandy-Walker
malformation, 4; toxoplasmosis, 2; obesity, 1; oligohy-
dramnios, 7; retardation in the physical development of
the fetus, 7; antidepressant therapy, 1; toxemia of the preg-
nancy, 3; preeclampsia, 1; and stillbirth, 4.
Karyotyping was performed for 14 fetuses. It found 8
of the karyotyped fetuses to be with a normal karyotype
and 6 with chromosomal aberrations.
Isolated ventriculomegaly was found in 64 fetuses,
39 of them being caused by intraventricular hemorrhage,
while for the remaining 25 a cause was not established,
which placed their diagnosis as essential hydrocephalus.
The syndromes associated with hydrocephalus in
our study were Arnold-Chiari type II malformation,
Dandy-Walker malformation, stenosis of the aqueductus
sylvii, agenesis of corpus callosum (partial and total) and
numerical chromosomal aberrations such as trisomy 13, 15
and 18 (Figure 1).
In our study, the Arnold-Chiari type II malforma-
tion was combined with spina bifida, encephalocele and
rachischisis (Figure 2).
Bickers-Adams syndrome (an X chromosome stenosis
of the aqueductus sylvii) was observed in one fetus with a
thanatophoric dysplasia (thanatophoric dwarfism) and in
two fetuses with a VACTERL association.
Discussion
In 64 (58.7%) of the studied fetuses, an isolated hydro-
cephalus was found, 38 (59.3%) of them being male, con-
firming the claim of Robroch etal. [11] that the anomaly

Kitova etal.: Fetal hydrocephalus 67
has a male preponderance. Therefore, it is important to
carry out a systematic physical examination of the gender,
head circumference, width of the ventricles and karyotype.
According to Hannon etal. [12], the incidence of the
major forms of ventriculomegaly is 3.6 per 10,000 births. In
nearly 50% of our cases, the pregnancy was terminated for
medical reasons, and a 21% neonatal lethality was found
for live births, half of whom presented with an isolated
hydrocephalus. A foliate deficiency could be the cause of
stillbirths and premature births, miscarriages, premature
deliveries, placental abruption, cleft lip, cleft palate and
Down’s syndrome. This entails karyotyping, especially
when ventriculomegaly was confirmed by MRI. The lack of
karyotype, particularly in cases of multiple malformations,
makes genetic counseling difficult, especially in inherit-
ance syndromes. For a definitive diagnosis, MRI, TORCH
test (toxoplasmosis, other infections, rubella, cytomegalo-
virus and herpes simplex virus), genotype and karyotype
tests are needed in addition to fetal echography [13].
The prenatal diagnosis of hydrocephalus allows clini-
cians to provide parents with information about the future
of the fetus. Particularly difficult for antenatal advice are
cases with isolated ventriculomegaly [14]. According to Xie
etal. [15], cases with an expansion of the lateral ventricle
with a transverse diameter ≥ 12mm with an intrauterine
progression are generally associated with a poor progno-
sis and should therefore be closely monitored.
The deviation in cephalic perimeter, which was
found in 97 (88.9%) of the fetuses, confirms the need for a
precise control of the ratio of the biparietal diameter and
the cephalic perimeter.
In 45 of the studied fetuses, the hydrocephalus was
either associated with other anomalies or was a part of
different syndrome malformations of the central nervous
system, some of which were genetically determined. This
requires not only a study of the karyotype, but also a sys-
tematic search for the presence of additional anomalies.
In our study, the Arnold-Chiari type II malformations were
frequently combined with spina bifida, encephalocele and
rachischisis, while the stenosis of the aqueductus sylvii
in cases with the Bickers-Adams syndrome is associated
with thanatophoric dysplasia and VACTERL. The determi-
nation of additional anomalies enables a more accurate
current therapeutic approach to be determined, as well as
provides information about the future of a fetus.
In our series, all of the cases were diagnosed after the
23rd gestational week: 76 cases (69.7%) were diagnosed
before the 27th gestational week and the remaining 33 cases
(30.3%) were diagnosed after the 28th gestational week.
This indicates that, in cases of isolated hydrocephalus and
0
5
10
15
20
25
30
Dandy
Walker
Arnold
Chiari
Type II
AGCCP AGCCT St. Sylvii
Aq.
Tr.13 Tr.15 Tr.18
15
27
8
22
3
112
Figure 1 Syndromes in which hydrocephalus is present.
AGCCP, agenesis of corpus callosum partial; AGCCT, agenesis of corpus callosum total; St. Sylvii Aq., stenosis of the Sylvii aqueductus.
0
2
4
6
8
10
Spina bifida Encephalocele Rachischisis
10
33
Figure 2 Associations of the Arnold-Chiari type II malformation.

68 Kitova etal.: Fetal hydrocephalus
a stable condition of the fetus, it is possible to wait until
the term or to induce labor without danger to the child.
Several studies confirm the existence of a link between
foliate deficiency and neural tube defects (NTDs), hydro-
cephalus, mental retardation and heart defects.
During the early 1980s, the results of intrauterine
surgery were not satisfactory owing to an improper dis-
tinction between the types of hydrocephalus. Nowadays,
with the advancement in imaging and intrauterine surgical
techniques, the efficacy of intrauterine therapy in properly
selected fetuses, especially destructive hydrocephalus cases,
has been enhanced [16]. However, the clinical results are not
impressive even in the best surgical hands, although tech-
niques such as cranio-cervical decompression and autolo-
gous duraplasty produce satisfactory results in isolated
cases of Arnold-Chiari type II malformation [17,18]. Attempts
at intrauterine shunting of fetuses with hydrocephalus have
shown that the potential complications are greater than the
benefits. Currently, it is generally accepted that, in cases of
steady fetal ventriculomegaly, it is better to wait for the birth
of the child. If the hydrocephalus is progressive in nature,
and the age and condition of the fetus allow for pregnancy
termination, it must be performed early, and the hydroceph-
alus should be shunted immediately after. This requires the
mother to seek consultation with a neurosurgeon, who, after
birth, will perform the surgery.
The prevention of hydrocephalus is essential. It is
an integral part of the prevention of NTDs, especially the
associated forms of hydrocephalus. Many studies have
proven the protective effects of increased maternal foli-
ates in the form of supplementation with folic acid in the
periconceptional period and during the first months of
pregnancy. Folic acid supplementation before and during
the first 3months of pregnancy at doses of 0.4mg (400μg)
per day is recommended to reduce the risk for both hydro-
cephalus and NTDs.
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