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Newborn screening programs: should 22q11 deletion syndrome be added?
[child syndrome]
The
highly
variable
22
q
11
deletion
syndrome
has
been
proposed
for
addition
to
newborn
screening
panels
.
A
literature
review
investigated
the
incidence
and
prevalence
,
clinical
features
,
and
prognosis
of
22
q
11
deletion
syndrome
and
other
issues
related
to
newborn
screening
.
Severe
complications
that
could
potentially
be
helped
by
screening
include
cardiac
defects
in
80
%
(
with
20
%
having
no
outward
signs
to
aid
detection
)
,
hypocalcemia
that
can
lead
to
seizures
in
20
%
(
though
hypocalcemia
is
routinely
investigated
in
sick
newborns
)
,
and
severe
immune
deficiency
in
<
1
%
(
which
would
be
identified
by
some
states
'
severe
combined
immunodeficiency
screens
)
.
Other
benefits
that
do
not
fit
traditional
goals
of
newborn
screening
include
treatment
for
complications
such
as
failure
to
thrive
and
developmental
delay
or
preventing
a
"
diagnostic
odyssey
.
"
Although
universal
screening
may
prove
the
incidence
to
be
>
1
:
5000
,
undetected
life-threatening
effects
occur
in
a
minority
of
22
q
11
deletion
syndrome
patients
.
Concerns
include
an
untested
screening
technique
,
difficulty
obtaining
results
in
time
for
cardiac
intervention
,
the
chance
of
"
vulnerable
child
syndrome
"
in
mild
cases
,
and
possibly
detecting
congenital
heart
disease
more
efficiently
by
other
means
.
Because
addition
of
tests
for
highly
variable
conditions
such
as
22
q
11
deletion
syndrome
is
likely
to
set
a
precedent
for
other
syndromes
,
reevaluation
of
newborn
screening
criteria
should
be
considered
.
Diseases
Validation
Diseases presenting
"failure to thrive"
symptom
22q11.2 deletion syndrome
alexander disease
child syndrome
congenital diaphragmatic hernia
cystinuria
familial hypocalciuric hypercalcemia
hirschsprung disease
homocystinuria without methylmalonic aciduria
junctional epidermolysis bullosa
kabuki syndrome
kindler syndrome
krabbe disease
neonatal adrenoleukodystrophy
omenn syndrome
papillon-lefèvre syndrome
pyruvate dehydrogenase deficiency
triple a syndrome
wolf-hirschhorn syndrome
zellweger syndrome
This symptom has already been validated