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Pathologic diagnosis of achondrogenesis type 2 in a fragmented fetus: case report and evidence-based differential diagnostic approach in the early midtrimester.
[achondroplasia]
As
a
group
,
lethal
genetic
skeletal
disorders
(
GSDs
)
usually
result
in
death
within
the
perinatal
period
.
Because
lethal
GSDs
are
often
ultrasonographically
detectible
by
early
midtrimester
,
dilation
and
evacuation
(
D
&
E
)
is
the
method
of
choice
for
elective
termination
of
pregnancy
in
many
institutions
.
However
,
because
the
diagnosis
of
the
lethal
GSDs
relies
heavily
upon
radiologic
examination
of
fetal
remains
,
reaching
an
accurate
diagnosis
in
this
setting
can
be
challenging
.
We
report
an
autopsy
case
of
a
fetus
delivered
by
D
&
E
at
15
4
/
7
weeks
gestation
with
radiologic
,
histologic
,
and
genetic
findings
compatible
with
achondrogenesis
type
2
and
discuss
an
evidence-based
differential
diagnostic
approach
to
lethal
GSDs
terminated
by
early
midtrimester
D
&
E
.
Diseases
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Diseases presenting
"reaching an accurate diagnosis in this setting can be challenging"
symptom
achondroplasia
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