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FISH for 22q11.2 Deletion Not Cost-Effective for Infants with Congenital Heart Disease with Microarray.
[22q11.2 deletion syndrome]
The
objective
of
this
study
is
to
evaluate
the
yield
of
genetic
testing
in
infants
with
congenital
heart
disease
,
who
undergo
surgical
intervention
prior
to
one
year
of
age
,
and
develop
a
cost-effective
strategy
to
screen
infants
with
congenital
heart
disease
for
genetic
conditions
while
providing
standard
of
care
.
409
charts
of
patients
with
congenital
heart
disease
,
who
underwent
surgical
intervention
prior
to
one
year
of
age
,
were
retrospectively
reviewed
for
cytogenetic
testing
results
.
278
patients
underwent
cytogenetic
testing
,
and
89
.
6
Â
%
of
these
patients
had
more
than
one
cytogenetic
test
completed
.
The
most
commonly
encountered
chromosomal
anomaly
within
the
sample
was
Down
Syndrome
(
12
.
5
Â
%
)
,
followed
by
22
q
11
.
2
Deletion
Syndrome
(
4
.
6
Â
%
)
.
G-Banded
Karyotypes
were
abnormal
in
10
.
5
Â
%
of
patients
,
fluorescence
in
situ
hybridization
(
FISH
)
probe
for
22
q
11
.
2
deletion
was
abnormal
in
7
.
1
Â
%
of
patients
.
SNP
microarray
testing
showed
the
highest
yield
and
was
abnormal
in
33
Â
%
of
patients
.
Based
on
the
data
at
our
institution
,
a
more
directed
approach
of
genetic
screening
with
only
microarray
would
have
saved
our
institution
approximately
$
101
,
200
on
the
103
patients
who
underwent
genetic
evaluation
with
microarray
reviewed
.
Screening
infants
with
congenital
heart
disease
for
22
q
11
.
2
deletion
with
FISH
resulted
in
a
loss
of
approximately
$
32
,
000
per
100
patients
at
our
institution
.
Institutions
should
develop
microarray-based
protocols
for
genetic
screening
in
patients
with
congenital
heart
disease
with
the
anticipation
of
adding
lesion-
specific
single
gene
testing
as
single
gene
testing
becomes
routinely
available
.
Diseases
Validation
Diseases presenting
"heart disease"
symptom
22q11.2 deletion syndrome
achondroplasia
acute rheumatic fever
adrenal incidentaloma
child syndrome
classical phenylketonuria
cohen syndrome
congenital diaphragmatic hernia
dentinogenesis imperfecta
esophageal adenocarcinoma
fabry disease
familial mediterranean fever
heparin-induced thrombocytopenia
hirschsprung disease
holt-oram syndrome
homocystinuria without methylmalonic aciduria
kabuki syndrome
monosomy 21
omenn syndrome
phenylketonuria
sneddon syndrome
systemic capillary leak syndrome
wiskott-aldrich syndrome
wolf-hirschhorn syndrome
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