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Early fetal cystoscopy for first-trimester severe megacystis.
[megacystis-microcolon-intestinal hypoperistalsis syndrome]
To
report
the
feasibility
of
early
fetal
cystoscopy
for
the
prenatal
diagnosis
and
therapy
of
severe
first
-trimester
megacystis
.
Between
January
2008
and
February
2010
,
early
fetal
cystoscopy
at
16
weeks
of
gestation
was
offered
to
15
patients
whose
fetuses
presented
with
severe
first
-trimester
megacystis
.
All
infants
were
followed
up
for
6
-
12
months
after
birth
.
Autopsy
was
always
performed
whenever
fetal
or
neonatal
deaths
occurred
.
Seven
patients
decided
to
undergo
fetal
therapy
,
and
eight
elected
to
continue
with
expectant
observation
.
One
fetus
died
before
early
fetal
cystoscopy
was
performed
.
Therefore
,
six
fetuses
underwent
early
fetal
cystoscopy
.
Urethral
atresia
was
diagnosed
in
three
fetuses
during
fetal
cystoscopy
and
confirmed
at
autopsy
following
termination
of
pregnancy
at
19
-
20
weeks
in
all
cases
.
Posterior
urethral
valves
were
diagnosed
and
successfully
fulgurated
by
laser
during
early
cystoscopy
in
three
fetuses
,
two
of
which
survived
with
normal
renal
and
bladder
function
after
birth
;
the
remaining
fetus
had
a
postnatal
diagnosis
of
megacystis
-
microcolon
intestinal
hypoperistalsis
syndrome
and
died
neonatally
.
In
the
expectantly
managed
group
,
no
survivals
were
observed
,
even
among
cases
with
'
isolated
'
posterior
urethral
valves
.
Percutaneous
early
fetal
cystoscopy
is
feasible
for
prenatal
diagnosis
and
therapy
of
severe
megacystis
.
Diseases
Validation
Diseases presenting
"prenatal diagnosis"
symptom
22q11.2 deletion syndrome
achondroplasia
adrenomyeloneuropathy
alexander disease
alpha-thalassemia
aromatase deficiency
benign recurrent intrahepatic cholestasis
cadasil
canavan disease
classical phenylketonuria
cohen syndrome
congenital adrenal hyperplasia
congenital diaphragmatic hernia
congenital toxoplasmosis
cystinuria
dentinogenesis imperfecta
epidermolysis bullosa simplex
harlequin ichthyosis
holt-oram syndrome
homocystinuria without methylmalonic aciduria
hydrocephalus with stenosis of the aqueduct of sylvius
junctional epidermolysis bullosa
kindler syndrome
krabbe disease
lamellar ichthyosis
megacystis-microcolon-intestinal hypoperistalsis syndrome
monosomy 21
neonatal adrenoleukodystrophy
oculocutaneous albinism
omenn syndrome
phenylketonuria
primary hyperoxaluria type 1
pyruvate dehydrogenase deficiency
severe combined immunodeficiency
wolf-hirschhorn syndrome
x-linked adrenoleukodystrophy
zellweger syndrome
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