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Taiwan J Obstet Gynecol •September 2009 •Vol 48 •No 3 317
A 28-year-old woman, gravida 2, para 0, was referred
to our hospital because of a fetal anomaly at 12 weeks
6 days of gestation; she had no previous family or med-
ical history. Transvaginal two-dimensional (2D) ultra-
sound examination showed a single live fetus consistent
with a 12-week gestation, with abdominal visceral even-
tration of the gastrointestinal tract, ectopia cordis,
and a defect of the lower sternum. In addition, a cystic
lesion in the cranium suggesting exencephaly was noted,
but detailed detection of the craniospinal structure could
not be achieved. Three-dimensional (3D) ultrasound
examination using a Medison ultrasound system (Accuvix
XQ; Medison, Seoul, Korea) was then performed for
differential diagnosis of the cranial lesion. A transparent
image of the fetal skeleton obtained using 3D demon-
strated craniorachischisis (Figure 1).
Because of the diagnosis of pentalogy of Cantrell with
craniorachischisis, the patient and her family decided to
terminate the pregnancy after giving written informed
consent. A 15-g male fetus with multiple anomalies
was delivered vaginally at 13 weeks 4 days of gestation
by transvaginal administration of gemeprost. Gross
examination confirmed ectopia cordis, a supraumbili-
cal abdominal wall defect with eventration of the
liver, stomach and intestine, a defect of the lower ster-
num, and craniorachischisis, which was compatible
with the prenatal findings (Figure 2). Chromosomal
diagnosis by using chorionic villi from the aborted
specimen resulted in the finding of a normal karyotype
of 46,XY.
Pentalogy of Cantrell is a rare syndrome which is
defined by the presence of a supraumbilical abdominal
wall defect, various intracardiac defects, a defect of the
lower sternum, deficiency of the anterior diaphragm,
and a defect in the diaphragmatic pericardium [1]. The
prevalence of this syndrome has been estimated as 5.5
in 1 million live births [2]. This syndrome has been
reported with complete or incomplete phenotypes in the
literature [3], the latter phenotype being observed in
40% of the cases of this syndrome. The central nervous
system malformations are associated with the incom-
plete phenotypes [4]. Only three cases with cranio-
rachischisis in the literature were reported to have been
prenatally diagnosed, all of which were diagnosed dur-
ing 18–26 weeks of gestation by using 2D ultrasound
examination or magnetic resonance imaging [5,6].
This is the first case of pentalogy of Cantrell with
craniorachischisis diagnosed by 3D ultrasound in the
first trimester. There seems to be a rare association of
this syndrome with malformations in the central nerv-
ous system and, to our knowledge, only three cases
with craniorachischisis have been reported as men-
tioned above [5,6]. Bognoni et al [4] also reported a
case with exencephaly in the first trimester, in which
spinal dysraphism was confirmed at autopsy. In this
case, a cystic lesion detected by 2D ultrasound implied
exencephaly, but was not sufficient to establish the
diagnosis because of the earlier stage of gestation.
Accordingly, the 3D ultrasound examination was use-
ful for detecting the structural malformation of the
bone in craniorachischisis.
Although 2D ultrasound examination has played
an important role in prenatal diagnosis, the recent devel-
opment of 3D imaging has provided more detailed
anatomic information regarding fetal malformations
in cases where 2D imaging has proven insufficient.
Furthermore, the 3D transparent mode is more suit-
able for detecting fetal bone malformations because
of the relatively greater contrast difference compared
with its neighboring structures [7].
In this case, the combination of the 2D and
3D ultrasound methods provided useful information
for prenatal detection of pentalogy of Cantrell with
craniorachischisis.
PRENATAL DIAGNOSIS OF PENTALOGY OF CANTRELL
WITH CRANIORACHISCHISIS BY THREE-DIMENSIONAL
ULTRASONOGRAPHY IN THE FIRST TRIMESTER
Susumu Murata, Masahiko Nakata*, Masahiro Sumie, Masakazu Mastsuabra1, Norihiro Sugino1
Perinatal Care Center, Yamaguchi University Hospital, and 1Department of Obstetrics and
Gynecology, Yamaguchi University Graduate School of Medicine, Ube, Japan.
*Correspondence to: Dr Masahiko Nakata, Perinatal
Care Center, Yamaguchi University Hospital,
Minamikogushi, Ube, 755-8505, Japan.
E-mail: miyabi@yamaguchi-u.ac.jp
Accepted: December 13, 2008
■RESEARCH LETTER ■
Taiwan J Obstet Gynecol •September 2009 •Vol 48 •No 3
318
S. Murata, et al
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AB
Figure 1. (A) Two-dimensional and (B) three-dimensional ultrasound images at 12 weeks of gestation showing an open fetal
cranial defect (craniorachischisis; arrow).
Figure 2. Post-delivery view of the fetal posterior side show-
ing the open fetal cranial defect (craniorachischisis; arrow).
