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Evaluation of a new protocol for retrospective diagnosis of congenital toxoplasmosis by use of Guthrie cards.
[congenital toxoplasmosis]
The
aim
of
this
study
was
to
assess
the
diagnostic
value
of
IgM
Western
blotting
(
WB
)
,
IgA
enzyme
immunoassay
(
EIA
)
,
and
DNA
amplification
by
real-time
PCR
on
Guthrie
cards
to
retrospectively
establish
the
diagnosis
of
congenital
toxoplasmosis
(
CT
)
.
To
this
purpose
,
Guthrie
cards
were
collected
from
18
infants
born
to
mothers
with
primary
Toxoplasma
gondii
infection
during
pregnancy
.
Moreover
,
the
analytical
sensitivity
of
T
.
gondii
PCR
was
assessed
by
testing
mock
dried
blood
specimens
set
up
with
several
known
DNA
dilutions
.
IgM
WB
was
demonstrated
to
be
the
most
sensitive
method
.
When
the
results
of
T
.
gondii
DNA
detection
and
specific
IgM
recovery
were
combined
,
retrospective
CT
diagnosis
by
using
Guthrie
cards
was
established
in
3
out
of
6
infected
infants
(
sensitivity
,
50
%
;
95
%
confidence
interval
,
26
.
8
%
to
73
.
2
%
)
.
No
positive
PCR
or
serologic
results
were
found
in
the
group
of
12
uninfected
infants
,
demonstrating
the
excellent
specificity
of
the
three
methods
(
95
%
confidence
interval
,
78
.
1
%
to
99
.
5
%
)
.
The
findings
of
the
present
study
suggest
that
,
in
cases
of
missed
diagnosis
of
CT
at
birth
,
analysis
of
Guthrie
cards
for
children
with
compatible
clinical
findings
after
the
perinatal
period
,
in
particular
the
combination
of
recovery
of
specific
IgM
antibodies
and
T
.
gondii
DNA
amplification
,
could
be
helpful
.
Nevertheless
,
since
suboptimal
conditions
of
storage
of
dried
blood
specimens
can
seriously
affect
sensitivity
,
negative
results
can
not
rule
out
CT
diagnosis
.
In
contrast
,
because
of
the
excellent
specificity
shown
by
IgM
serologic
testing
and
T
.
gondii
DNA
amplification
on
Guthrie
cards
,
positive
results
obtained
by
either
of
the
two
methods
should
be
considered
diagnostic
.
Diseases
Validation
Diseases presenting
"blood specimens"
symptom
22q11.2 deletion syndrome
alpha-thalassemia
congenital adrenal hyperplasia
congenital toxoplasmosis
lymphangioleiomyomatosis
phenylketonuria
scrub typhus
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