Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
Prenatal Control of Hb Bart's Disease in Mainland China: Can We Do Better?
[alpha-thalassemia]
Abstract
The
aim
of
the
present
study
was
to
report
a
3
-
year
experience
on
the
prenatal
control
of
Hb
Bart
's
(
γ
4
)
disease
in
Mainland
China
.
All
pregnancies
with
fetal
Hb
Bart
's
disease
were
included
from
January
2011
to
December
2013
.
The
main
clinical
characteristics
of
the
affected
pregnancies
were
reviewed
,
including
maternal
reproductive
history
,
prenatal
care
in
the
current
pregnancy
,
the
gestation
of
pregnancy
at
the
time
of
booking
,
the
gestation
at
the
time
of
prenatal
diagnosis
(
PND
)
,
and
the
complications
associated
with
the
pregnancy
.
A
total
of
246
cases
of
fetal
Hb
Bart
's
disease
were
identified
during
the
study
period
;
among
these
,
177
(
72
.
0
%
)
were
diagnosed
in
early
gestation
(
≤
24
weeks
)
,
and
69
(
28
.
0
%
)
in
late
gestation
.
Most
(
87
.
0
%
)
of
the
patients
presenting
in
late
pregnancy
had
late
or
no
prenatal
care
.
Twenty
(
29
.
0
%
)
had
major
obstetrical
complications
in
patients
presenting
in
late
pregnancy
,
and
five
(
5
.
0
%
)
in
patients
presenting
in
relatively
early
pregnancy
.
The
delay
in
PND
deprived
couples
of
opportunities
to
make
informed
decisions
early
in
pregnancy
.
Efforts
for
designing
and
targeting
strategies
to
improve
the
timeliness
of
prenatal
care
are
urgently
needed
.
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
You can validate or delete this automatically detected symptom
Validate the Symptom
Delete the Symptom
