Journal of Medical Ultrasound (2012) 20, 150e154

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ORIGINAL ARTICLE

Prenatal Diagnosis of Fetal Encephalocele Using

Three-dimensional Ultrasound
Sing-Ling Liao 1, Pei-Yin Tsai 1*, Yueh-Chin Cheng 1, Chiung-Hsin Chang 1,
Huei-Chen Ko 2,3, Fong-Ming Chang 1,2,3
1
Department of Obstetrics and Gynecology, National Cheng Kung University Medical College and Hospital, 2 Department
of Psychology, Asia University, Taichung, and 3 Institute of Behavior Medicine, College of Medicine, National Cheng Kung
University, Tainan, Taiwan

Received 15 January, 2012; accepted 30 May, 2012

KEY WORDS
encephalocele,
three dimensional
ultrasound

Fetal encephalocele, with high risk of mortality and morbidity, is one of the most serious
congenital neural tube defects. Prenatal diagnosis of encephalocele is important in fetal medicine. In this study, we detected encephalocele using three-dimensional ultrasound (3D US). We
reviewed our medical records of prenatal diagnosis of fetal encephalocele in National Cheng
Kung University Hospital from May 2000 to November 2011. All the cases were scanned by
two-dimensional and 3D US. In total, 10 cases of fetal encephalocele were diagnosed and
enrolled for analysis. The range of gestational age at prenatal diagnosis by US was 12e27
weeks, and one case was diagnosed in the first trimester. Among them, 70% were occipital encephalocele, 10% frontal encephalocele, and 20% parietal encephalocele. Compared with
previous studies, 3D US can detect fetal encephalocele early and provide additional vivid illustrations after various modes of reconstruction. In conclusion, 3D US may contribute to early
detection of fetal encephalocele and provide visual depiction, thus, assisting substantially
with prenatal diagnosis as well as genetic consultation.
2012, Elsevier Taiwan LLC and the Chinese Taipei Society of Ultrasound in Medicine. All rights
reserved.

Introduction

* Correspondence to: Dr. Pei-Yin Tsai, Department of Obstetrics

and Gynecology, National Cheng Kung University Medical College
and Hospital, 138 Victory Road, Tainan 70428, Taiwan.
E-mail address: tsaipy@mail.ncku.edu.tw (P.-Y. Tsai).

Encephalocele is characterized as a protrusion of the brain

and/or meninges through a defect in the skull that is covered
with skin. It is one of the most severe neural tube defects,
with a prevalence estimated to be 0.8e5 per 10,000 live
births [1]. Prenatal diagnosis of encephalocele is

0929-6441/$36 2012, Elsevier Taiwan LLC and the Chinese Taipei Society of Ultrasound in Medicine. All rights reserved.
http://dx.doi.org/10.1016/j.jmu.2012.07.005

Prenatal Diagnosis of Encephalocele by 3D US

151

accomplished by maternal screening of serum a-fetoprotein

levels and ultrasound (US). With two-dimensional ultrasound
(2D US), encephalocele appears as a defect in the calvarium
containing a cystic or solid mass with a gyral pattern that is
contiguous with the brain [2]. Prenatal 2D US detects
approximately 80% of encephaloceles. The diagnosis is easily
and confidently made from sonographic findings during the
second trimester and can also be made in the first trimester
[3]. The prognosis for patients with encephalocele depends
on the extent of herniated neural tissue in the sac and on the
presence of associated anomalies. In a previous series, 83% of
patients with encephaloceles had mental handicap and/or
physical impairment [4]. The mortality rate of encephalocele
was 29% [5]. Seizure disorders are present in about 20% of
infants with congenital encephalocele [6].
With the advent of three-dimensional (3D) US, various
rendering modes of imaging may improve imaging depiction.
Since 1992, we have used 3D US in prenatal diagnosis of
congenital anomalies, assessing fetal organ volume, predicting fetal weight, as well as prenatal detection of fetal
growth restriction [7e25]. In the present series, we collected
and analyzed retrospectively cases of encephalocele diagnosed by 3D US from May 2000 to November 2011. Although
isolated cases of encephalocele diagnosed by 3D US have
been reported previously [26], to the best of our knowledge,
this series is one of the largest of prenatal diagnosis of
encephalocele using 3D US in the medical literature.

Materials and methods

From May 2000 to November 2011, the medical records of
patients with fetal encephalocele were reviewed. The cases
were from the Antenatal Clinic of National Cheng Kung
University Hospital, which is a tertiary medical center in
Southern Taiwan. All the US examinations were undertaken in
the Antenatal Ultrasound Laboratory of Obstetrics and

Table 1

Gynecology, National Cheng Kung University Hospital, Tainan,

Taiwan. All the fetuses were followed to the end of pregnancy
to confirm the diagnosis of encephalocele. As encephalocele
may be associated with other malformations that may be part
of other syndromes [1,27,28], systematic scanning was performed for every individual. In other words, not only the
central nervous system, but also fetal cardiovascular,
gastrointestinal, genitourinary and musculoskeletal systems,
as well as craniofacial deformities were examined.
For 3D US examinations, we used a 3.5e7.0-MHz Voluson
US scanner (Kretz Voluson 530D; Zipf, Austria) and a 4e8-MHz
transabdominal or transvaginal US scanner (Voluson 730
Expert; GE Medical Systems, Milwaukee, WI, USA). The fetus
with encephalocele was initially scanned by 2D US to locate
the region of interest (ROI). Then, the 3D probe was used to
scan all the ROIs systematically and mechanically. All the
images were stored for further 3D visualization and reconstruction by a variety of rendering modes of 3D US, including
surface-rendering, transparent, X-ray, gradient-light, or
maximal intensity mode, or as a mixture of several modes.

Results
In total, 10 fetuses were depicted in utero to have fetal
encephalocele by 3D US in 11 years. All the results of this
series are summarized in Table 1. The range of gestational
age was 12e27 weeks and the mean was 20 weeks. Six cases
(60%) were diagnosed before 20 weeks gestation. Maternal
ages ranged from 21 to 34 years (mean: 29 years). Among
the 10 mothers, six (60%) were multiparous.
2D US was used to scan the ROI (Fig. 1). 3D US imaging
was undertaken to provide additional illustrations after
various modes of reconstruction (Fig. 2). The 3D US images
allowed the parents to have a better understanding of the
fetal malformation, especially with the images of surface
reconstruction.

Prenatal diagnosis of encephalocele by 3D US.

Case no.

Maternal
Age (y)

Obstetric
history

Gestational
age (wk)

US indication

Type of
encephalocele

Associated anomalies

Outcome

21

G1P0

25

Referral

Occipital

TOP

34

G2P1

256

Referral

Occipital

3
4

28
29

G2P1
G1P0

185
176

Referral
Referral

Occipital
Frontal

5
6
7
8

31
32
32
28

G4P1SA1AA1
G2P1
G1P0
G2P1

18
122
186
19

Referral
Routine
Referral
Referral

Parietal
Parietal
Occipital
Occipital

31

G2P1

20

Referral

Occipital

10

24

G3P0AA2

27

Referral

Occipital

Single umbilical artery

Cystic hygroma
MeckeleGruber syndrome
(polycystic kidney disease,
club feet, polydactyly)
d
Amniotic band syndrome,
facial distortion, cleft
lip and palate
d
d
d
Hydrocephalus, absence
of 5th mid phalanx
Oligohydramnios, cystic
hygroma, pleural effusion
Meningocele, cystic hygroma

3D US Z three-dimensional ultrasound; A Z abortion; G Z gravida; PZ para; TOP Z termination of pregnancy.

TOP

TOP
TOP

TOP
TOP
TOP
TOP
TOP
TOP

152

S.-L. Liao et al.

polydactyly and club feet were detected. MeckeleGruber
syndrome was diagnosed.

Discussion

Fig. 1 Transverse view of a fetus with occipital encephalocele of 185 weeks of gestation (Case 3) by two-dimensional
ultrasound shows a defect in the calvarium containing
a cystic or solid mass with a gyral pattern that is contiguous
with the brain.

Among these 10 cases, seven (70%) were occipital

encephalocele, one (10%) was frontal encephalocele, and
two (20%) were parietal encephalocele. In addition, for
associated anomalies, 60% were noted to be associated
with other malformations. In other words, 30% were associated with cystic hygroma, 10% with single umbilical
artery, 10% with amniotic band, cleft lip and palate and
facial distortion, and 10% with hydrocephalus. In Case 2,
occipital encephalocele with polycystic kidney disease,

Fig. 2 Surface rendering mode of the same fetus in Fig. 1

(Case 3) using three-dimensional ultrasound shows
a protruding mass in the occipital area, representing occipital
encephalocele.

Encephaloceles are divided into three major types: sincipital (frontoethmoidal), basal (trans-sphenoidal, sphenoethmoidal, transethmoidal, and spheno-orbital), and
occipital. Occipital encephaloceles are the most frequent
type (w85%) in North America and Western Europe [29]. By
contrast, in Southeast Asia, parts of Russia, and Central
Africa, frontal encephaloceles are more frequent than
occipital type [29]. In our series, seven cases (70%) were
occipital encephalocele, one (10%) was frontal, and two
(20%) were parietal, which is similar to the series in North
America and Western Europe.
To date, the underlying mechanism causing congenital
encephalocele is still uncertain, although it involves
defective closure of the anterior neural tube. Some have
proposed that the onset of the most severe lesions may
occur prior to 26 days after conception, whereas the less
severe lesions that primarily involve skull or meninges may
occur later [30,31].
If the encephalocele is bulky, with severe microcephaly
or other lethal anomalies, termination of pregnancy may be
the choice due to the severe morbidity and mortality.
However, postpartum surgical treatment is appropriate for
cases with relatively small encephalocele and without
other associated lethal anomalies. The procedure basically
consists of removing the overlying sac and closing the
defect including the dural defect [32]. Therefore, vaginal
delivery may be considered if the lesion is relatively small.
By contrast, large fetal encephaloceles may require
cesarean section to deliver the baby.
Factors related to the prognosis and outcome for babies
with encephalocele include the size of the sac, the
contents of the neural tissue, hydrocephalus, infection, and
the presence of associated anomalies. Lo and colleagues [6]
have reported that hydrocephalus and other intracranial
abnormalities may predict neurodevelopmental outcome,
but not the type of the encephalocele [6]. Cognitive
development was abnormal in 52% of patients, with mild,
moderate or severe mental delay in 11%, 16% and 25% of
patients, respectively [6]. In another series, French reported 83% of encephalocele infants were mentally and/or
physically impaired [4]. Kiymaz and co-workers reported
that the mortality rate of occipital encephalocele was 29%
[5]. In our series, all the cases were severe encephalocele,
with a large herniated sac and brain tissue. Therefore, all
the parents selected termination after US examination and
prenatal consultation.
Although prenatal detection of fetal encephalocele has
been made by 2D US since 1992 [33], prenatal illustration of
fetal encephalocele by 3D US has not been reported before
2006 [26]. In 2006, Tsai and colleagues [26] first reported
a case of fetal frontal encephalocele using 3D US at 17
weeks gestation. In 2010, fetal occipital encephalocele
diagnosed at 13 weeks gestation using 3D US was reported
by Sorak and coworkers [34]. In 2011, Borowski and
colleagues [3] presented two cases of occipital encephalocele diagnosed at 12 and 13 weeks gestation using 3D US.

Prenatal Diagnosis of Encephalocele by 3D US

In our series, the gestational age at prenatal diagnosis by 3D
US was 12e27 weeks, with a mean of 20 weeks. In total, 90%
of cases were diagnosed at the second trimester. Only 10%
were diagnosed at the first trimester.
Encephalocele is frequently associated with other malformations that may be part of recognized syndromes
[1,27,28]. The most common of the associated syndromes is
MeckeleGruber syndrome, which includes occipital encephalocele, microcephaly, microphthalmia, polycystic
kidneys, ambiguous genitalia, polydactyly, cleft lip and
palate, and other malformations [35]. Other cerebral malformations are often associated with encephalocele such as
hydrocephalus, corpus callosal abnormalities, and cerebral
dysgenesis [6,35]. In our series, only four cases (40%) were
isolated encephalocele and 60% were associated with other
malformations. Three cases (30%) had cystic hygroma, one
(10%) had single umbilical artery, one (10%) had amniotic
band, cleft lip and palate and facial distortion, and one (10%)
had hydrocephalus. In Case 2, 3D US revealed occipital
encephalocele with polycystic kidney disease, polydactyly
and club feet, and MeckeleGruber syndrome was diagnosed.
Our frequencies of associated anomalies are different from
other studies. Further studies are warranted to investigate
the anomalies associated with fetal encephalocele.
In conclusion, in order to compare with previous reports of
fetal encephalocele diagnosed prenatally using 3D US, we
retrospectively analyzed our cases of encephalocele and
proved the diagnostic feasibility of 3D US. In addition, this may
be the first and probably the largest series of cases of fetal
encephalocele diagnosed prenatally by 3D US thus far. From the
results of this study, we believe that 3D US may be an important
diagnostic tool for clinical application in fetal medicine.

153

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Acknowledgments
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We are grateful to the staff of Ultrasound Laboratory of

Obstetrics and Gynecology, National Cheng Kung University
Hospital. This study was partly supported by a grant from
National Science Counsel, Executive Yuan, Taipei, Taiwan.

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