Cerebral injury and long-term neurodevelopment impairment in children following severe fetomaternal transfusion: a retrospective cohort study
Archives of Disease in Childhood Fetal & Neonatal,
Год журнала:
2025,
Номер
unknown, С. fetalneonatal - 328135
Опубликована: Янв. 27, 2025
Objective
Fetomaternal
transfusion
(FMT)
is
associated
with
increased
perinatal
mortality
and
morbidity,
but
data
on
postnatal
outcomes
are
scarce.
Our
aim
was
to
determine
the
incidence
of
adverse
short-term
long-term
sequelae
severe
FMT.
Design
Retrospective
cohort
study.
Setting
Dutch
tertiary
neonatal
intensive
care
unit.
Patients
Liveborn
neonates
FMT
admitted
in
2017–2022.
Main
outcome
measures
Severe
defined
as
≥30
mL
fetal
red
blood
cells
maternal
circulation
diagnosed
positive
Kleihauer-Betke/flow
cytometry
test.
Adverse
were
compared
between
mild
(10–30
loss)
highlight
impact
severity.
Primary
an
composite
consisting
or
neurological
morbidity
(ie,
cerebral
injury
and/or
neurodevelopmental
impairment
(NDI)
at
2
years).
Secondary
asphyxia.
Results
109
included,
16
93
Neonatal
occurred
19%
(3/16)
4%
(4/93)
(p=0.063).
Perinatal
asphyxia
25%
(4/16)
6%
(6/93)
(p=0.038).
Long-term
assessed
60
neonates.
NDI
22%
(2/9)
children
16%
(8/51)
(p=0.637).
43%
(95%
CI
38
50%)
18%
17%
24%)
(p=0.074).
Conclusion
38%–50%
loss
anaemia
due
Язык: Английский
Assessment of Neurodevelopmental Outcomes in Children With Congenital Heart Disease Using Magnetic Resonance Imaging (MRI): Focus on Brain Volume as a Predictor of Neurodevelopmental Abnormalities
Journal of Multidisciplinary Healthcare,
Год журнала:
2025,
Номер
Volume 18, С. 1241 - 1248
Опубликована: Фев. 1, 2025
This
study
aims
to
evaluate
the
neurodevelopmental
outcomes
in
children
with
congenital
heart
disease
(CHD)
using
magnetic
resonance
imaging
(MRI),
and
assess
role
of
brain
volume
metrics
as
predictors
abnormalities.
In
this
retrospective
cohort
study,
160
CHD
treated
at
Children's
Hospital
Nanjing
Medical
University
from
January
2020
December
2023
were
analyzed.
Patients
classified
into
normal
(DQ
≥
70,
n=106)
abnormal
neurodevelopment
<
n=54)
groups
based
on
Developmental
Quotient
(DQ)
scores.
MRI
scans
used
measure
total
volume,
cortical
gray
matter,
deep
white
cerebrospinal
fluid
volumes.
Neurodevelopmental
assessments
focused
adaptive
behavior,
motor
skills,
language,
personal-social
behavior.
ROC
analysis
was
performed
determine
predictive
value
for
Total
group
(341.82
±
10.43
mL)
significantly
higher
than
(323.92
10.24
(P
0.05).
Cortical
matter
(131.47
4.02
also
greater
(121.63
6.91
No
significant
differences
observed
or
Children
scored
lower
all
developmental
domains
showed
that
(AUC
=
0.968)
0.936)
strong
abnormalities
0.001).
measured
by
MRI,
are
effective
can
serve
valuable
tools
early
assessment.
Язык: Английский
Congenital Heart Diseases and Neurodevelopmental Disorders
JACC Basic to Translational Science,
Год журнала:
2025,
Номер
unknown
Опубликована: Апрель 1, 2025
Congenital
heart
disease
(CHD)
is
the
primary
cause
of
birth
defects,
affecting
9
per
1,000
live
births.
Up
to
50%
them
will
develop
neurodevelopmental
disorders,
two-thirds
which
being
unexplained
by
postnatal
risk
factors.
Recent
advances
suggest
a
triangular
relationship
between
placenta
and
fetal
brain
in
CHD,
consistent
with
Developmental
Origins
Health
Disease
hypothesis,
ie,
utero
programming
early
later-in-life
noncommunicable
cardiometabolic
mental
diseases.
The
current
review
provides
comprehensive
evidence
placental,
cardiac,
cerebral
tissues
interactions,
details
how
placental
dysregulation
may
affect
vasculogenesis,
angiogenesis
neural
tube
closure,
hemodynamics,
energy
supply,
endocrine
function,
epigenetic
regulation
developing
brain.
Future
studies
should
include
research,
since
identifying
biomarkers
would
allow
identification
CHD
infants
at
higher
for
leading
targeted
preventive
personalized
interventions.
Язык: Английский
Placental and Fetal In Utero Growth Among Fetuses With Congenital Heart Disease
JAMA Network Open,
Год журнала:
2025,
Номер
8(4), С. e257217 - e257217
Опубликована: Апрель 24, 2025
Importance
At
birth,
neonates
with
congenital
heart
disease
(CHD)
have
smaller
placentas,
lower
birth
weight,
and
head
circumferences
compared
healthy
neonates.
The
onset
of
feto-placental
growth
disturbances,
however,
is
not
well
known.
Objective
To
compare
fetal
body
volumes,
assess
differences
in
the
to
placental
volume
ratios
(placental
relative
fetus),
investigate
association
between
utero
total
brain
fetuses
without
CHD.
Design,
Setting,
Participants
This
case-control
study
enrolled
pregnant
women
a
diagnosis
CHD
those
pregnancies
at
Children’s
National
Hospital
Washington,
DC,
from
April
2018
July
2023.
Fetal
magnetic
resonance
imaging
was
obtained
up
2
time
points
during
pregnancy.
ratio
calculated
using
3-dimensional
image
volumes
volumes.
Exposure
In
environment
Main
Outcomes
Measures
main
outcomes
were
trajectories
body,
brain,
volumetric
control
fetuses.
Generalized
linear
regression
mixed-effects
models
applied
identify
associations
for
groups
adjusting
sex
gestational
age
scan.
Results
included
108
(59
male
[54.6%]),
which
55
group
(with
scans),
53
had
77
scans).
(β
=
−193.60
[SE,
44.42];
P
&lt;
.001)
larger
0.23
0.10];
.02).
−10.87
5.09];
.04).
Conclusions
Relevance
this
CHD,
demonstrated
impaired
higher
volume,
suggesting
that
failure
associated
disturbances
as
by
large
ratios.
Additional
studies
should
progression
dysfunction
how
timing
may
contribute
neurodevelopmental
disability
survivors
Язык: Английский
Identification and Functional Characterization of a Novel SOX4 Mutation Predisposing to Coffin–Siris Syndromic Congenital Heart Disease
Children,
Год журнала:
2025,
Номер
12(5), С. 608 - 608
Опубликована: Май 7, 2025
Background/Objectives:
Congenital
heart
disease
(CHD)
occurs
in
~1%
of
all
live
neonates
globally,
rendering
it
the
most
prevalent
developmental
anomaly
affecting
humans;
this
condition
confers
substantial
infant
morbidity
and
mortality
worldwide.
Although
there
is
ample
evidence
to
suggest
a
paramount
genetic
basis
for
CHD,
etiologies
underpinning
majority
CHD
remain
elusive.
In
present
study,
SOX4
was
selected
as
significant
candidate
gene
human
mainly
because
abundantly
expressed
both
murine
hearts
during
embryogenesis,
knockout
Sox4
mice
causes
embryonic
demise
predominantly
attributable
cardiovascular
defects.
Methods:
Sequencing
analysis
fulfilled
248
probands
affected
with
various
types
available
relatives
identified
variation
carrier
well
262
unrelated
healthy
individuals.
Functional
mutant
protein
conducted
by
utilizing
dual-reporter
system.
Results:
novel
heterozygous
variation,
NM_003107.3:c.331G>T;p.(Glu111*),
discovered
male
proband
Coffin–Siris
syndromic
CHD.
Genetic
investigation
proband’s
revealed
that
truncating
co-segregated
phenotype
whole
family.
The
nonsense
absent
from
controls.
demonstrated
Glu111*-mutant
lost
transactivation
on
NKX2.5
GATA4,
two
well-established
genes
are
causative
factors
Moreover,
Glu111*
mutation
nullified
synergistic
between
TBX20,
another
CHD-causing
gene.
Conclusions:
These
findings
support
accountable
familial
humans.
may
aid
developing
personalized
preventive
therapeutic
strategies
patients
Язык: Английский
Pregnancy Complications in Fetal Congenital Heart Disease: A Result of Common Early Developmental Pathways Rather Than Fetal Hemodynamics
Prenatal Diagnosis,
Год журнала:
2025,
Номер
unknown
Опубликована: Май 26, 2025
ABSTRACT
Objective
The
aim
of
this
study
was
to
compare
placenta‐related
complications
(adverse
placental
syndrome)
between
different
types
fetal
CHD
based
on
cardiac
hemodynamics.
Method
All
cases
diagnosed
prenatally
by
ECHO
during
2009–2023
were
selected.
Exclusion
criteria
as
follows:
multiple
pregnancies,
pregnancy
termination,
known
genetic
aberrations,
and
extracardiac
anomalies.
Cases
categorized
into
6
groups
theorized
hemodynamic
factors.
Reference
values
for
growth
restriction
(FGR),
preeclampsia
(PE),
induced
hypertension
(PIH),
intra
uterine
demise
(IUFD)
from
the
overall
Dutch
and/or
European
population
used.
Results
After
exclusion,
1293
available
analysis.
incidence
FGR
198/1247
(15.9%).
There
a
significant
difference
in
(
p
=
0.002)
though
it
could
not
be
correlated
with
aortic
flow
oxygenation.
high
PE
(64/1282,
5.0%),
PIH
(43/1284,
3.3%),
IUFD
(33/1291,
2.6%)
our
cohort
compared
reference
values.
Nonetheless,
there
no
differences
PE,
PIH,
groups.
Conclusion
A
adverse
syndrome
found
related
Even
CHDs
without
changes,
these
found.
This
might
clinical
manifestation
early
embryological
developmental
pathways
that
affect
both
placenta
heart.
Язык: Английский
Placental histology, perioperative brain development, and neurodevelopmental outcome at 1 year of age in patients undergoing neonatal cardiac surgery—is there an association?
Frontiers in Cardiovascular Medicine,
Год журнала:
2025,
Номер
12
Опубликована: Май 30, 2025
Background
Patients
with
congenital
heart
disease
(CHD)
who
are
operated
on
after
birth
at
risk
for
neurodevelopmental
(ND)
impairment.
Before
birth,
altered
fetal
hemodynamics
due
to
the
CHD
may
lead
reduced
cerebral
perfusion
and
oxygen
supply.
The
placenta
as
a
critical
organ
enhance
this
pathology.
Methods
Neonates
complex
were
included.
We
scored
placental
pathology
analyzed
structural
volumetric
brain
changes
of
perioperative
MRI
ND
outcome
data
using
Bayley
III
1
year
age.
Results
A
total
45
(13
female)
patients
D-transposition
great
arteries
(
n
=
19,
42.2%),
single
ventricle
14,
31.1%),
left
ventricular
outflow
tract
7,
15.6%),
other
5,
11.1%)
analyzed.
Placental
findings
abnormal
in
21
(46.7%).
Pre-
postoperative
cMRI
26
(57.8%)
36
(80%)
patients,
respectively,
while
18
(40%)
had
both
(pre-/postoperative)
cMRI.
Half
our
lesions
before
(50%)
(52.8%)
surgery,
mild
intracerebral
hemorrhages
(pre,
11.1%;
post,
22.2%),
small
strokes
(pre/post,
8.9%),
white
matter
injury
0%/4.5%),
hypoxia
4.5%).
Abnormal
not
associated
more
but
smaller
volumes,
cortical
gray
matter,
cerebellar
structures
(all
p
<
0.05),
Conclusions
underlining
impact
function
development
cofactor
CHD.
Язык: Английский
Placenta histology related to flow and oxygenation in fetal congenital heart disease
Early Human Development,
Год журнала:
2024,
Номер
195, С. 106079 - 106079
Опубликована: Июль 18, 2024
Язык: Английский
Placenta‐Heart‐Brain Connection in Congenital Heart Disease
Journal of the American Heart Association,
Год журнала:
2024,
Номер
13(5)
Опубликована: Фев. 29, 2024
Язык: Английский
[Research progress on neurodevelopmental disorders associated with congenital heart disease].
PubMed,
Год журнала:
2024,
Номер
26(11), С. 1231 - 1237
Опубликована: Ноя. 15, 2024
The
incidence
and
disability
rate
of
neurodevelopmental
disorders
in
children
are
high,
making
it
a
significant
public
health
issue
affecting
children's
globally.
Neurodevelopmental
particularly
common
with
congenital
heart
disease
(CHD),
clinical
characteristics
varying
by
type
CHD,
surgical
approach,
age
stage,
the
presence
different
complications
or
comorbidities.
In
recent
years,
based
on
intervention
model
"early
diagnosis
early
treatment,"
foreign
studies
have
begun
to
explore
new
techniques
for
preventive
high-risk
disorders,
achieving
promising
results.
This
paper
reviews
associated
aiming
provide
theoretical
basis
implementing
thereby
further
reducing
CHD.
Язык: Английский