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ORIGINAL ARTICLE
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
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
151
Table 1
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.
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
TOP
TOP
TOP
TOP
TOP
TOP
TOP
TOP
TOP
152
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.
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.
153
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Acknowledgments
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