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Nationwide neonatal screening for congenital adrenal hyperplasia in sweden: a 26-year longitudinal prospective population-based study.
[congenital adrenal hyperplasia]
Recent
reports
have
questioned
the
rationale
for
neonatal
screening
for
congenital
adrenal
hyperplasia
(
CAH
)
owing
to
low
sensitivity
in
salt-wasting
forms
and
a
high
rate
of
recall
(
ie
,
a
positive
finding
resulting
in
a
visit
to
a
pediatrician
and
a
second
test
)
in
preterm
infants
.
To
determine
the
efficiency
of
the
neonatal
screening
program
for
CAH
in
Sweden
over
time
.
Longitudinal
prospective
population-based
study
in
Sweden
.
We
assessed
neonatal
screening
for
CAH
from
January
1
,
1986
,
through
December
31
,
2011
,
when
2
737
932
infants
(
99
.
8
%
)
underwent
testing
.
The
CYP
21
A
2
genotype
was
investigated
in
219
cases
with
true-
positive
findings
(
94
.
8
%
)
.
We
investigated
the
screening
outcomes
for
231
patients
who
had
true-
positive
findings
,
43
with
late
diagnosis
,
and
1497
infants
with
false-
positive
findings
.
Sensitivity
of
the
screening
for
salt-wasting
CAH
.
The
most
important
secondary
outcome
measures
were
the
positive
predictive
values
and
recall
rates
for
full-term
and
preterm
infants
and
sensitivity
for
milder
forms
of
CAH
.
A
total
of
143
patients
with
salt-wasting
CAH
were
identified
;
none
were
missed
.
The
sensitivity
was
lower
for
milder
forms
of
the
disorder
(
P
=
.
04
)
,
including
79
.
7
%
for
simple
virilizing
forms
and
32
.
4
%
for
nonclassic
forms
.
The
positive
predictive
value
was
higher
in
full-term
(
25
.
1
%
)
than
preterm
(
1
.
4
%
)
infants
and
correlated
with
gestational
age
(
r
=
0
.
98
;
P
<
.
001
)
.
The
recall
rate
in
full-term
infants
(
0
.
03
%
)
was
lower
than
that
in
preterm
infants
(
0
.
57
%
)
(
P
<
.
001
)
.
An
analysis
of
previously
reported
results
from
other
screening
programs
revealed
that
the
sensitivity
of
the
screening
was
negatively
correlated
with
the
duration
of
follow-up
(
P
=
.
03
)
.
Screening
for
CAH
was
highly
effective
in
detecting
the
salt-wasting
form
and
thereby
reducing
mortality
.
Additional
late-onset
cases
of
CAH
were
detected
in
childhood
and
adolescence
,
reducing
the
sensitivity
for
milder
forms
.
The
positive
predictive
value
was
high
despite
a
low
recall
rate
in
full-term
infants
.
Further
improvements
are
necessary
to
increase
the
effectiveness
of
screening
among
preterm
infants
.
