ULTRASOUND
Beryl
Frederic
Frederick
R. Benacerraf,
D. Frigoletto,
R. Bieber,
M.D.
Jr., M.D.
Ph.D.2
The Fetal Face: Ultrasound
O
Abnormalities
of the fetal face were identified
by ultrasound
in five cases. Abnormalities
such as cleft lip and palate,
cyclopia,
and forms
of holoprosencephaly
were diagnosed
prenatally.
Two of the fetuses
had trisomy
13. When
facial abnormalities
are identified
a careful
search
of
the fetus for associated
anomalies
is mdicated;
amniocentesis
for genetic
study
may be desirable.
In addition,
evaluation
of the fetal face may be useful
when
other
fetal abnormalities
are present.
ultrasound
(US) has been
of structural
fetal abnormalities.
ment and operator
ability
are both improving,
defects
can be identified.
Much
work
has
pearance
of the normal
and abnormal
fetus
is often
overlooked
and can be a source
Index
terms:
Face, abnormalities,
20.14
abnormalities,
856.14
#{149}
Fetus,
ultrasound
856.1298
#{149}
Holoprosencephaly,
13.1412
20.148
Abnormalities
of the fetal face were identified
in five cases in an obstetrical
US laboratory
where the fetal face is routinely
imaged.
The criteria for abnormalities
were based on the appearance
of the orbits, nose, and lips. The
plane of section most commonly
used was a coronal view through
the facial
structures
involving
both orbits, maxilla, and anterior portion
of the mandible
Radiology
1984;
#{149}
Fetus,
studies,
#{149}
Palate,
cleft,
153: 495-497
BSTETRICAL
nosis
widely
used for the diagAs real-time
US equipmore subtle
structural
been done
on the US ap(1), however,
the fetal face
of considerable
informa-
lion.
We report
anomalies
and
may
five cases of abnormal
may sometimes
suggest
even warrant
chromosomal
facial
other
structures
accompanying
studies.
of the fetus. These
abnormalities
METHODS
in one
vertical
plane.
Once
this
view
is obtained,
moved slightly
anteriorly
on the fetal face to
lids, lips, and nose, or posteriorly
to image
bones,
bony orbits, and lenses. A sagittal view
profile
can often be useful for viewing
soft
views are similar to those planes used in the
(2) for early
US diagnosis
done using
transducers
real-time
ATL Mark
and Acuson i28 with
of bilateral
cleft
the plane
of section
can be
view the soft tissues of the eye
the inside of the mouth,
nasal
through
the fetal face and the
tissues
and facial bones. These
technique
of Seeds and Cefalo
lip and
palate
(2). All studies
were
III and Mark I with 3-MHz
fixed-focus
a 3.5-MHz
variable-focus
transducer.
RESULTS
Among
the five fetuses
included
in this report
(Figs. 1-3, TABLE I),
four had cleft lip and palate
and one had cyclopia.
In each case, the
diagnosis
was made and well-visualized
prenatally
by US. In CASES
I and II, the diagnosis
of cleft lip and palate
(CASE I) and cyclopia
(CASE II) were made prior to 24 weeks
and contributed
to the patient’s
decision
not to continue
her pregnancy.
In addition,
in both of these
cases there
were abnormal
intracranial
findings
suggestive
of holoprosencephaiy,
including
midline
abnormalities
of the lateral
yentnicles
and hydrocephalus.
Cytogenetic
studies
demonstrated
that
both of these fetuses
had trisomy
13. In CASE Ill, a very large cleft lip
and
1
From
Diagnostic
Ultrasound
Associates
and
the
Department
of Obstetrics
and Gynecology,
Harvard
Medical
School
(B.R.B.),
the Department
of Obstetrics
and Gynecology,
Brigham
and Women’s
Hospital
(F.D.F.),
and the Department
of Pathology,
Brigham
and Women’s
Hospital
and Children’s
Service,
Massachusetts
General Hospital
(F.R.B.), Boston,
MA. Received
Feb. 9, 1984; accepted
and revision
requested
April
10, 1984; revision
received
April 25, 1984.
2 Supported
by NIH Grant
5 T32 GM 07748 and by
grants
from the William
Randolph
Hearst
Foundation
and the Paine
Fund.
C RSNA,
1984
ht
palate
was
accompanied
by
severe
fetal
hydrocephalus.
The
fetus
was delivered
at 28 weeks
because
of premature
labor
and died because of a dysmorphic
brain that could not sustain
vital functions.
In
C.sE
IV the fetus had severe
abnormalities,
including
a large ventral
wall defect
and club foot in addition
to the cleft lip and palate
necognized
at 32 weeks
gestation.
The fetus
was stillborn
at term. Patient
V was referred
for diagnostic
US because
of her polyhydramnios.
Her
fetus appeared
structurally
normal
except
for a unilateral
cleft lip and
palate,
and it was unclear
if this facial abnormality
contributed
to the
polyhydramnios.
The prenatal
diagnosis
of the facial cleft was helpful
in emotionally
preparing
the parents
prior to the birth.
At birth,
no
other
abnormalities
were present.
495
Figure
1
b.
a.
b.
c.
Frame
Frame
from
from
neal-time
real-time
Frame
from real-time
showing
the fetal
showing
a detailed
sonogram
demonstrating
DISCUSSION
Ultrasonognaphic
examination
of the
fetal face is an important
part of the
fetal structural
survey
and can be performed
in almost
any pregnancy
unless
the fetus is in the occiput
anterior
position.
Examination
of the fetal
face
may be particularly
useful
in patients
with
specific
risk
factors
such
as a
family
history
of facial cleft. Fetal facial
abnormalities
can be identified
sonographically
early
in the second
tnmesten
as well as later,
although
the
younger
fetal faces have a much
more
skeletal
appearance
than
their
olden
counterparts.
The five cases reported
here
demonstrate
that
facial
abnormalities
such as a facial cleft on cyclopia
can be accompanied
by intracranial
defects,
or even abnormalities
involving the trunk
and extremities,
such as
in CASE IV. When
a facial
abnormality
is identified,
therefore,
a careful
search
of the nest of the fetus for any associated
problems
is indicated.
Cytogenetic
amniocentesis
may even
be desirable
in selected
cases, since tnisomy
13 and
other
chromosomal
abnormalities
are
sometimes
associated
with
facial
defeds (3).
There
have
been
several
other
re-
I:
TABLE
Case/Age
P atient
(yr)
1/26
11/30
111/31
IV/23
V/32
496
.
Radiology
c.
sonogram
sonogram
face. Note
view
a fetal
the partly
of the
open
mouth
and
face in the second
lids (long
upper
lip
trimester.
arrow)
and
mouth
(short
arrow).
(arrows).
This
view
shows
the fetal
lens
(arrow).
ports
of facial abnormalities
noted
by
US. Seeds
and
Cefalo
reported
two
cases of cleft lip and palate
seen
before
tance
of the
fetal
facial
examination
during
prenatal
ultrasound
studies,
only
as a reflection
of fetal well-being
20 weeks,
one of which
(2), and
Fnigoletto
et
fetus
with
hydnocephalus
and
a cleft
There
palate
have
diagnosed
been
two
had trisomy
a!. described
who also
antenatally
other
reports
i3
a
had
(4).
of
cleft
lip and palate
diagnosed
by US in
either
in conjunction
with
trisomy 13 on associated
with
a family
history of a facial
cleft
(5, 6). Blackwell
et
utero,
behavioral
changes,
but
not
also
to
identify
crucial
fetal
facial
malfommalions.
The presence
of facial
defects
can
signify
that other
structural
anomalies
and
chromosomal
abnormalities
may
be present.
The fetal facial examination
can also be helpful
in preparing
parents
prior
to the birth
of an abnormal
child.
a!. and Lev-Gur
et a!. each
report
a single case of fetal
cyclopia
and holoprosencephaly
diagnosed
prenatally
by
ultrasound
(7, 8).
Imaging
not only
structural
the
fetal
face
useful
for the
abnormalities,
be helpful
behavioral
antenatally
identification
but can
in assessing
fetal
changes.
Birnholz
the presence
fetus,
which
is
of
also
in the
with
fetal well-being
(9). Binnholz
and Benacemraf
also have reported
the blink
reflex
as a response
to an auditory
stimulus
related
to gestational
age (10).
In evaluating
fetuses
with
upper
gastrointestinal
obstruction,
fetal
vomiting or regurgitation
can be identified
by watching
the fetal mouth
(ii).
we
stress
Associates
state and
reported
of eye movements
can
be correlated
In conclusion,
Diagnostic
Ultrasound
398A Brookline
Avenue
Boston,
MA 02215
the
impor-
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2.
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Case Histories
Date/US
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Indication
19 wk/Size
less
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20 wk/Uncertain
23 wk/Size
less
dates
35 wk/Size-dates
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than
Cleft
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Hydrocephalus
palate,
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Outcome
Pregnancy
with
large
Pregnancy
terminated
at 21 wk. Trisomy
13. US findings
confirmed.
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labor 28 wk. US findings
confirmed.
Neonatal
death.
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brain.
Delivery
of stillborn
at term. US findings
confirmed.
Normal
karyotype.
Uncomplicated
term delivery.
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cleft lip and palate
confirmed
as only abnormality.
Large ventral
wall defect,
palate,
left club foot
Cleft lip and palate
cleft
lip and
at 20 wk.
Followup
hydrocephalus
cyclopia
facial cleft
terminated
and
Tnisomy
13. US findings
November
confirmed.
1984
Figure
2
b.
a.
Frame
from
b.
Frame from real-time
sonogram
the maxilla
(arrow)
(CASE III).
showing
c.
Frame
of a fetus
from
the upper
4.
5.
6.
7.
8.
9.
10.
1 1.
real-time
sonogram
real-time
lip (CAsE
sonogram
of a fetus
153
Number
a large
cleft
with
unilateral
with
a large
extending
cleft
midline
from
lip
and
facial
cleft
(arrow)
the mouth
into
the right
palate
as the
only
(CASE
I).
orbit
and
abnormality.
creating
The
arrows
a large
show
discontinuity
the
two
in
parts
of
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JC, Greene
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1982; 2:313-317.
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DE, Spinnato
JA, Hirsch
G, Giles
HR. Sackler
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ultrasound
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1982; 143:848-849.
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in fetal cyclopia,
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JC.
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1982;
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Volume
c.
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2
Figure
3
a.
a.
b.
b.
Frame
from
real-time
sonogram
The nason
was located
above
Gross
specimen
of the abortus,
showing
the orbit,
confirming
not
the central
fused
orbit
(arrows)
seen
in this view.
the ultrasound
findings.
seen
Radiology
in CASE
II.
#{149}
497
