Journal of Obstetrics and Gynaecology

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Prenatal diagnosis of a body stalk anomaly by

a combination of ultrasonography and foetal
magnetic resonance imaging

Hiroto Ueda, Toshinobu Miyamoto, Gaku Minase & Kazuo Sengoku

To cite this article: Hiroto Ueda, Toshinobu Miyamoto, Gaku Minase & Kazuo Sengoku
(2017): Prenatal diagnosis of a body stalk anomaly by a combination of ultrasonography
and foetal magnetic resonance imaging, Journal of Obstetrics and Gynaecology, DOI:
10.1080/01443615.2017.1306842

To link to this article: http://dx.doi.org/10.1080/01443615.2017.1306842

Published online: 03 May 2017.

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JOURNAL OF OBSTETRICS AND GYNAECOLOGY, 2017
http://dx.doi.org/10.1080/01443615.2017.1306842
CASE REPORT
Prenatal diagnosis of a body stalk anomaly by a combination of ultrasonography
and foetal magnetic resonance imaging
Hiroto Ueda, Toshinobu Miyamoto, Gaku Minase and Kazuo Sengoku
Department of Obstetrics and Gynecology, Asahikawa Medical University, Asahikawa, Japan
Case report
A 25-year-old pregnant woman (gravida 1, para 1) had been
followed-up at another hospital from an early stage of preg-
nancy. She was referred to our outpatient clinic for prenatal
diagnosis at 20 weeks and 2 days of gestation because a
mass near the foetal pelvis had been detected by ultrason-
ography at the former hospital. We carried out foetal ultra-
sonography in detail and found that the lumbar spine
became indistinct halfway down the body. A mass 3.8 cm in
diameter was present near the foetal buttocks, and a single
umbilical artery was present (Figure 1(AC)). A slight amni-
otic fluid alveus was present in the head, but not in the
trunk. The umbilical cord seemed to be very short (Figure 1).
We decided to perform foetal magnetic resonance imaging
(MRI) on the same day because ultrasonography by itself
could not lead to a definitive diagnosis. Using T2-weighted
MRI, the mass located near the foetal pelvis was confirmed
to consist of the liver and intestinal tract, which had
escaped from the abdominal cavity by gastroschisis (Figure
1(DF)). In addition, the foetal spine showed scoliosis, and
the stomach, kidneys, and right leg were missing (Figure
1(D,E)). The condition could be diagnosed as a body stalk
anomaly from the combination of ultrasonography and MRI.
We explained the situation of the foetus and its lethal prog-
nosis to the parents. The parents decided to terminate the
pregnancy and gave informed consent. The patient was hos-
pitalised 4 days later and delivered transvaginally at 20 weeks
and 6 days of gestation.
An autopsy was performed, but the sex of the foetus could
not be determined. It was 18.5 cm long and weighed 294 g.
Deficiencies of the abdominal wall and amnion were detected
in the right flank, and the liver and small intestine had
escaped to the amnion (Figure 1(G,H)). The stomach and small
intestine could not be found, but the ileocaecum was located
in the left abdomen, and the large intestine had closed the
anus retroperitoneally. The spleen could be found, but the kid-
neys could not. The umbilical cord was short and attached to
the placental border, and the umbilical cord vein ran in the
liver. The right leg was missing and the left leg showed a club-
foot. The final diagnosis was a body stalk anomaly. The parents
CONTACT Toshinobu Miyamoto toshim@asahikawa-med.ac.jp
2-1-1-1, Asahikawa, Hokkaido 078-8510, Japan
2017 Informa UK Limited, trading as Taylor & Francis Group
did not wish for an examination of placental villous chromo-
somes, so we did not perform karyotyping.
Discussion
A body stalk anomaly is a deficiency of the abdominal wall
resulting from abnormal development of the cranial, caudal,
and lateral embryonic body folds. The estimated incidence of
body stalk anomalies in the first trimester is approximately
1/7500 (Goldstein et al. 1989; Daskalakis et al. 1997). Several
reports have described the prenatal diagnosis of body stalk
anomalies by ultrasonography (Daskalakis et al. 1997;
Ginsberg et al. 1997). The diagnostic criteria in early preg-
nancy are findings of abdominal organs that have escaped to
the exocoelom and the presence of a short umbilical cord
with only two blood vessels (Ginsberg et al. 1997). In add-
ition, another report suggested that a body stalk anomaly
should be strongly suspected when there is both loss of the
body wall or a skeletal abnormality and loss or extreme short-
ening of the umbilical cord in the middle trimester of preg-
nancy (Goldstein et al. 1989). However, diagnosis by
ultrasonography in the second trimester might be difficult
because of severe oligoamnios in some cases. Moreover, only
one report has described the prenatal diagnosis of a body
stalk anomaly using foetal MRI (Higuchi et al. 2013).
Foetal ultrasonography is the first method of choice for
prenatal diagnosis; however, it might be difficult because of
the orientation of the foetus or maternal obesity in some
cases. In addition, the ability to make a prenatal diagnosis
by ultrasonography depends on the experience of the
examiner. Foetal MRI can provide a high-quality image with-
out being influenced by the position of the foetus, the
maternal anatomy, or the technical level of the examiner.
Opportunities for an MRI diagnosis of foetal disorders are
increasing (Saleem 2014). Normally, MRI is difficult for
adequately evaluating foetal anatomy before 20 weeks of
gestation because of the small size of the foetus, but previ-
ous reports have showed that diagnosis of a body stalk
anomaly is possible using MRI at 14 weeks of gestation
(Higuchi et al. 2013). Therefore, when one cannot definitively
Department of Obstetrics and Gynecology, Asahikawa Medical University, Midorigaokahigashi
2 H. UEDA ET AL.

Figure 1. Imaging and autopsy findings. (AC) Prenatal ultrasonography at 20 weeks and 2 days of gestation. (A, B) White arrows indicate a mass of 3.8 cm in diam-
eter near the buttocks. The open white arrow indicates where the spine became indistinct from the mid-lumbar region caudally. (C) The umbilical cord was very
short (curved white arrow). In addition, there was only a single umbilical artery. (DF) Foetal MRI at 20 weeks and 2 days of gestation. (D, E) A T2-weighted sagittal
section confirmed that the mass in the pelvis comprised part of the intestinal tract (white arrow) and the liver (curved white arrow), which had escaped from the
abdominal cavity by gastroschisis. (F) The foetal spine showed scoliosis in a T2-weighted coronal section (black arrow). (G, H) Results of the autopsy. (G) The right
flank had abdominal wall and amniotic deficiencies, and the liver and small intestine had escaped outside the body cavity (black arrow). The right leg was missing
(white arrow), and the left leg showed a clubfoot (open white arrow). (H) The umbilical cord was very short and attached to the placental margin (black arrowhead).

diagnose a body stalk anomaly by ultrasonography alone, we References

suggest the use of foetal MRI.
Conclusion
Prenatal diagnosis of body stalk anomalies by ultrasonog-
raphy alone might be difficult in some cases. In such instan-
ces, we suggest that prenatal diagnosis should be attempted
using a combination of ultrasonography and MRI.
Disclosure statement
The authors report no conflicts of interest. The authors alone are respon-
sible for the content and writing of the paper.
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