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Lysosomal Storage Diseases as an Etiology of Non-Immune Hydrops: a Systematic Review.
[gm1 gangliosidosis]
We
performed
a
systematic
review
of
the
literature
to
evaluate
the
incidence
and
types
of
lysosomal
storage
disorders
(
LSD
)
in
case
series
of
non-immune
hydrops
(
NIH
)
.
PubMed
and
Ovid
were
reviewed
for
case
series
evaluating
the
work-up
of
NIH
diagnosed
in
utero
or
in
the
neonatal
period
in
human
subjects
.
Search
terms
were
'
non-immune
hydrops
,
'
'
non
immune
hydrops
,
'
'
metabolic
genetic
disorders
,
'
and
'
lysosomal
storage
disorders
.
'
The
time
period
searched
was
1979
-
January
2014
.
Retrospective
case
series
with
at
least
five
cases
of
fetal
and
/
or
neonatal
NIH
with
its
work-up
mentioned
were
identified
.
Idiopathic
NIH
was
defined
as
NIH
without
an
apparent
cause
after
initial
work-up
.
Exclusion
criteria
were
:
studies
published
in
languages
other
than
English
,
and
review
articles
.
The
three
authors
screened
all
abstracts
and
manuscripts
independently
.
MOOSE
guidelines
were
followed
.
Fifty
-
four
case
series
with
678
total
cases
of
NIH
were
identified
.
The
overall
incidence
of
LSD
was
5
.
2
%
(
35
/
678
)
in
all
NIH
cases
that
tested
for
any
LSD
,
and
17
.
4
%
(
35
/
201
)
in
idiopathic
NIH
cases
.
The
three
most
common
LSD
identified
in
cases
of
NIH
,
in
order
of
decreasing
incidence
,
were
Mucopolysaccharidosis
type
VII
,
Gaucher
's
disease
and
GM
1
-
gangliosidosis
.
LSD
occur
in
5
.
2
%
of
all
NIH
cases
,
and
in
17
.
4
%
of
idiopathic
NIH
cases
,
and
so
should
be
screened
for
in
this
clinical
scenario
.
Additionally
,
if
a
comprehensive
LSD
work
up
is
completed
on
idiopathic
cases
,
29
.
6
%
of
those
would
be
reclassified
as
LSD
.
LSD
testing
does
not
only
allow
diagnosis
,
but
also
ensures
better
counseling
,
appropriate
management
,
and
planning
for
possible
early
intervention
.
Moreover
,
their
detection
may
aid
in
prenatal
diagnosis
in
subsequent
pregnancies
.
Diseases
Validation
Diseases presenting
"prenatal diagnosis in subsequent pregnancies"
symptom
gm1 gangliosidosis
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