ORIGINAL ARTICLE
Clubfeet and associated abnormalities on fetal magnetic
resonance imaging
†
Ursula Nemec
1
, Stefan F. Nemec
1
*, Gregor Kasprian
1
, Peter C. Brugger
2
, Dieter Bettelheim
3
, Isha Wadhawan
4
, Alexander Kolb
5
,
John M. Graham Jr.
4
, David L. Rimoin
4
and Daniela Prayer
1
1
Department of Radiology, Division of Neuroradiology and Musculoskeletal Radiology, Medical University Vienna, Vienna, Austria
2
Center of Anatomy and Cell Biology, Integrative Morphology Group, Medical University Vienna, Vienna, Austria
3
Department of Obstetrics and Gynecology, Division of Prenatal Diagnosis and Therapy, Medical University Vienna, Vienna, Austria
4
Medical Genetics Institute, Cedars Sinai Medical Center, Los Angeles, CA, USA
5
Department of Orthopedics, Medical University Vienna, Vienna, Austria
*Correspondence to: Stefan Franz Nemec. E–mail: stefan.nemec@meduniwien.ac.at
†
This research was approved by the Medical University Vienna, EC No. 031/2009.
ABSTRACT
Objective Clubfoot, or talipes equinovarus (TEV), is commonly diagnosed on prenatal ultrasound. This study sought
to visualize TEV and associated abnormalities on fetal magnetic resonance imaging (MRI) compared with ultrasound.
Methods This retrospective study included the MRI scans of 44 fetuses with TEV using postnatal assessment and
autopsy as standard of reference. Isolated TEV was differentiated from complex TEV with associated abnormalities.
MRI findings and previous ultrasound diagnoses were compared.
Results Isolated TEV was found in 19/44 (43.2%) fetuses and complex TEV in 25/44 (56.8%). Associated abnormalities
consisted of the following: central nervous system/spinal abnormalities in 13/25 (52.0%) fetuses; musculoskeletal
abnormalities in 7/25 (28.0%); thoracic abnormalities in 3/25 (12.0%); a tumor in one case; and hydrops fetalis in one.
Of the 44 cases, 35 (79.5%) pregnancies were delivered, and nine (20.5%) pregnancies, which were terminated, all had
complex TEV. Of the 42 available ultrasound reports, additional MRI findings were made in 8/42 (19.0%) cases. MRI
did not add findings in isolated TEV on ultrasound. In 4/44 (9.1%) cases, autopsy revealed additional findings
compared with prenatal imaging.
Conclusion Fetal MRI enables differentiation between isolated and complex TEV. Isolated TEV on ultrasound may not
be an MRI indication, whereas MRI may be useful in cases of complex TEV. © 2012 John Wiley & Sons, Ltd.
Funding sources: None
Conflicts of interest: None declared
INTRODUCTION
Clubfoot, or talipes equinovarus (TEV), is a common congenital
abnormality that occurs in one to three of every 1000 live
births.
1
Approximately 50% of the cases of TEV are bilateral with
male predominance.
1
TEV is a structural abnormality of the
lower leg in which both the forefoot and the heel are inverted,
giving the foot a club-like appearance.
1
There is subluxation
of the talo–calcaneo–navicular joint, with underdevelopment
of the soft tissues of the foot, and frequently, of the calf and
peroneal muscles.
1
There is evidence for a multifactorial
etiology involving extrinsic factors, such as oligohydramnios,
vascular disruption, amniotic bands, and toxins, and intrinsic
factors, such as chromosomal abnormalities, and single-gene
defects.
2
Congenital TEV can be associated with a variety of
other birth defects, with syndromes, chromosomal aberrations,
and musculoskeletal disorders. Depending on the study, up
to 67% of TEV cases are associated with other congenital
anomalies.
3–5
On prenatal imaging, the ultrasound diagnosis of TEV can be
made as early as 13 gestational weeks (GW) transvaginally and at
16 GW transabdominally (Figure 1).
1,6
Fetal magnetic resonance
imaging (MRI) that can depict the whole fetus between the 18th
week and term has become a useful addition to ultrasound and
has been previously reported for musculoskeletal indications,
such as extremity anomalies and fetal akinesia.
7,8
The
investigation of TEV with fetal MRI is limited to recently
reported cases associated with myelomeningocele.
9
The latter
MRI study reported a sensitivity of 100% and a specificity of
85.2% in the evaluation of clubfeet.
9
Following up on this initial
report, the current study sought to visualize TEV, in utero, with
fetal MRI with a special focus on associated abnormalities. The
imaging protocols are described in detail and the potential
Prenatal Diagnosis 2012, 32,1–7 © 2012 John Wiley & Sons, Ltd.
DOI: 10.1002/pd.3911