Rare Diseases Symptoms Automatic Extraction
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A random Abstract
Our Project
Our Team
Safe, accurate, prenatal diagnosis of thanatophoric dysplasia using ultrasound and free fetal DNA.
[achondroplasia]
To
improve
the
prenatal
diagnosis
of
thanatophoric
dysplasia
by
defining
the
change
in
fetal
size
across
gestation
and
the
frequency
of
sonographic
features
,
and
developing
non-invasive
molecular
genetic
diagnosis
based
on
cell-free
fetal
DNA
(
cffDNA
)
in
maternal
plasma
.
Fetuses
with
a
confirmed
diagnosis
of
thanatophoric
dysplasia
were
ascertained
,
records
reviewed
,
sonographic
features
and
measurements
determined
.
Charts
of
fetal
size
were
then
constructed
using
the
LMS
(
lambda-
mu
-sigma
)
method
and
compared
with
charts
used
in
normal
pregnancies
and
those
complicated
by
achondroplasia
.
Cases
in
this
cohort
referred
to
our
Regional
Genetics
Laboratory
for
molecular
diagnosis
using
cffDNA
were
identified
and
results
reviewed
.
Forty
-
two
cases
were
scanned
in
our
units
.
Commonly
reported
sonographic
features
were
very
short
and
sometimes
bowed
femora
,
frontal
bossing
,
cloverleaf
skull
,
short
fingers
,
a
small
chest
and
polyhydramnios
.
Limb
shortening
was
obvious
from
as
early
as
13
weeks
'
gestation
,
with
minimal
growth
after
20
 
weeks
.
Analysis
of
cffDNA
in
three
of
these
pregnancies
confirmed
the
presence
of
the
c
.
742
C
>
CT
(
p
.
Arg
248
Cys
)
or
the
c
.
1948
A
>
AG
(
p
.
Lys
650
Glu
)
mutation
in
the
fibroblast
growth
factor
receptor
3
gene
.
T
hese
data
should
improve
the
accuracy
of
the
sonographic
diagnosis
of
thanatophoric
dysplasia
and
have
implications
for
reliable
and
safe
targeted
molecular
confirmation
using
cffDNA
.
Diseases
Validation
Diseases presenting
"limb shortening"
symptom
achondroplasia
oligodontia
This symptom has already been validated
