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The performance of four molecular methods for the laboratory diagnosis of congenital toxoplasmosis in amniotic fluid samples.
[congenital toxoplasmosis]
Introduction
:
Toxoplasmosis
may
be
life-threatening
in
fetuses
and
in
immune-
deficient
patients
.
Conventional
laboratory
diagnosis
of
toxoplasmosis
is
based
on
the
presence
of
IgM
and
IgG
anti-
Toxoplasma
gondii
antibodies
;
however
,
molecular
techniques
have
emerged
as
alternative
tools
due
to
their
increased
sensitivity
.
The
aim
of
this
study
was
to
compare
the
performance
of
4
PCR-based
methods
for
the
laboratory
diagnosis
of
toxoplasmosis
.
One
hundred
pregnant
women
who
seroconverted
during
pregnancy
were
included
in
the
study
.
The
definition
of
cases
was
based
on
a
12
-
month
follow-up
of
the
infants
.
Methods
:
Amniotic
fluid
samples
were
submitted
to
DNA
extraction
and
amplification
by
the
following
4
Toxoplasma
techniques
performed
with
parasite
B
1
gene
primers
:
conventional
PCR
,
nested-
PCR
,
multiplex-nested-
PCR
,
and
real-time
PCR
.
Seven
parameters
were
analyzed
,
sensitivity
(
Se
)
,
specificity
(
Sp
)
,
positive
predictive
value
(
PPV
)
,
negative
predictive
value
(
NPV
)
,
positive
likelihood
ratio
(
PLR
)
,
negative
likelihood
ratio
(
NLR
)
and
efficiency
(
Ef
)
.
Results
:
Fifty
-
nine
of
the
100
infants
had
toxoplasmosis
;
42
(
71
.
2
%
)
had
IgM
antibodies
at
birth
but
were
asymptomatic
,
and
the
remaining
17
cases
had
non-detectable
IgM
antibodies
but
high
IgG
antibody
titers
that
were
associated
with
retinochoroiditis
in
8
(
13
.
5
%
)
cases
,
abnormal
cranial
ultrasound
in
5
(
8
.
5
%
)
cases
,
and
signs
/
symptoms
suggestive
of
infection
in
4
(
6
.
8
%
)
cases
.
The
conventional
PCR
assay
detected
50
cases
(
9
false-negatives
)
,
nested-
PCR
detected
58
cases
(
1
false-negative
and
4
false-positives
)
,
multiplex-nested-
PCR
detected
57
cases
(
2
false-negatives
)
,
and
real-time-
PCR
detected
58
cases
(
1
false-negative
)
.
Conclusions
:
The
real-time
PCR
assay
was
the
best-performing
technique
based
on
the
parameters
of
Se
(
98
.
3
%
)
,
Sp
(
100
%
)
,
PPV
(
100
%
)
,
NPV
(
97
.
6
%
)
,
PLR
(
â
ˆ
ž
)
,
NLR
(
0
.
017
)
,
and
Ef
(
99
%
)
.
Diseases
Validation
Diseases presenting
"deficient patients"
symptom
aniridia
classical phenylketonuria
congenital toxoplasmosis
erythropoietic protoporphyria
homocystinuria without methylmalonic aciduria
neonatal adrenoleukodystrophy
omenn syndrome
phenylketonuria
pyruvate dehydrogenase deficiency
severe combined immunodeficiency
zellweger syndrome
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