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The development and organization of newborn screening programs in Turkey.
[phenylketonuria]
Newborn
screening
tests
have
been
designed
to
identify
infants
with
severe
disorders
that
are
relatively
prevalent
and
treatable
or
controllable
.
Comparing
to
other
countries
,
the
incidence
of
these
diseases
are
very
high
in
Turkey
where
the
rate
of
consanguineous
marriage
is
high
.
In
this
article
,
it
is
aimed
to
evaluate
the
development
and
organization
of
newborn
screening
programs
in
Turkey
which
include
phenylketonuria
,
congenital
hypothyroidism
and
biotinidase
deficiency
screenings
.
The
point
reached
today
,
limitations
of
the
program
,
expectations
and
projects
for
the
future
are
discussed
.
Today
,
the
point
reached
in
screening
programs
of
the
country
is
appreciable
.
While
the
screening
rate
of
the
live
born
babies
was
4
,
7
%
in
1987
,
this
rate
reached
to
95
%
by
2008
.
Predicted
target
for
newborn
screening
program
at
the
strategic
plan
of
Ministry
of
Health
for
2010
-
2014
was
to
enhance
this
rate
above
95
%
by
the
end
of
2012
.
It
seems
that
the
envisaged
goal
has
been
reached
.
National
newborn
screening
program
appears
to
be
conducted
successfully
and
extensively
as
a
result
of
political
determination
and
performance
of
health
care
workers
who
are
in
charge
of
this
program
.
Nevertheless
,
limited
numbers
of
the
nutrition
and
metabolism
clinics
and
specialists
on
these
branches
have
caused
some
access
difficulties
,
waste
of
time
,
and
financial
loss
.
Therefore
,
special
planning
to
improve
quality
and
the
number
of
the
clinics
would
be
useful
.
Diseases
Validation
Diseases presenting
"congenital hypothyroidism"
symptom
classical phenylketonuria
congenital adrenal hyperplasia
pendred syndrome
phenylketonuria
This symptom has already been validated