Fetal
diaphragmatic
hernia
Fetal
diaphragmatic
hernia
is a
congenital
defect
that
develops
during
the
formation
of the
diaphragm,
the
muscular
shelf
that
separates
the
chest
cavity
from the
abdominal
cavity.
The
diaphragm
is the
muscle
that
helps us
to
breathe,
so it is
a
critical
component
of the
respiratory
system.
In a
diaphragmatic
hernia,
the
diaphragm
which
develops
at about
8 to 10
weeks of
pregnancy
does
not
completely
form,
and a
gap is
created
between
the
chest
and the
abdominal
cavities.
The
severity
of this
condition
ranges
from a
small
gap in
the
diaphragm
to no
diaphragm
on one
side of
their
body.
Ninety
percent
of all
defects
are
found on
the left
side of
the
diaphragm.
Depending
on how
large
the hole
is, the
intestines,
spleen,
liver
and/or
stomach
may move
up into
the
chest
cavity.
In turn,
this
causes
the
lungs to
develop
poorly,
so that
the baby
is born
with a
smaller
number
of air
sacs,
blood
vessels
and
airways.
When
this
happens,
breathing
can be
difficult
or
impossible.
It is
estimated
that 1
in every
2,200
births
is
affected
by
diaphragmatic
hernia.
Parents
that
have one
child
born
with a
diaphragmatic
hernia
are at
an
increased
risk of
having
another
child
with
this
condition;
their
chance
is
approximately
1 in
every
50.
Also,
infants
with
this
condition
are
likely
to have
other
birth
defects.
About 1
in 5 are
born
with
heart
defects,
and 1 in
10 are
born
with
genetic
abnormalities.
Diagnosis
Fetal
diaphragmatic
hernia
can be
diagnosed
by
ultrasound
(sonogram)
examination
prior to
birth.
Evaluation
of the
chest
and
abdominal
area is
part of
the
routine
ultrasound
examination
done by
many
obstetricians
as part
of their
routine
prenatal
care
around
the 20th
week of
pregnancy.
Additionally,
it is
recommended
that a
baby
diagnosed
with
this
condition
be
referred
to a
pediatric
cardiologist
to
undergo
a fetal
echocardiogram,
which is
an
ultrasound
of the
infant's
heart
while
still in
the
womb.
This is
performed
because
many
babies
born
with
diaphragmatic
hernia
also
have
congenital
heart
defects.
The
echocardiogram
provides
a much
more
in-depth
evaluation
of the
heart.
Sometimes
magnetic
resonance
imaging
(MRI) is
performed
to
better
view the
area.
More
here
about
fetal
MRI.
Treatment
After
fetal
diaphragmatic
hernia
is
diagnosed,
the
staff at
Children's
Memorial
counsels
the
parents
and
prepares
them for
what to
expect
when
their
baby is
born.
Plans
are made
to
assure
that the
baby is
delivered
in a
hospital
that has
a
neonatal
intensive
care
unit (NICU)
with a
neonatologist
present
at the
delivery.
After
birth,
the baby
is
stabilized
and then
transferred
via
ambulance
to
Children's
Memorial
to begin
treatment.
Often
times
the
newborn
is
unable
to
breathe
on his
own
because
of poor
lung
development.
Most
babies
need
help
from a
breathing
machine
called a
ventilator.
After
stabilization
(generally
1 to 2
weeks),
the
infant
has
surgery
to
repair
the
diaphragmatic
hernia.
This is
done
either
by
closing
the hole
with
stitches
in cases
of a
small
defect;
in
larger
defects,
the
surgeons
may have
to place
a sheet
of mesh
graft
into the
baby's
chest to
close
the
hole. In
carefully
selected
cases,
these
surgeries
can be
completed
using
the 'minimally
invasive
surgery'
technique,
thus avoiding
a large
incision.
More
here
about
minimally
invasive
surgery.
If an
infant
cannot
be
stabilized
while on
the
ventilator,
he may
be
temporarily
placed
on a
heart/lung
bypass
machine
called
ECMO
(extracorporeal
membrane
oxygenation).
This
machine
helps to
pump
blood
and
bring
oxygen
to the
rest of
the
body.
Few
babies
need the
assistance
of ECMO
because
neonatal
care has
significantly
improved
over the
last 20
years.
However,
if a
child
does
need to
rely on
it for a
short
time, he
will
undergo
an
operation
to
attach
the
tubes of
the ECMO
to his
blood
vessels.
(see
more on
ECMO
)
Long-term
outlook
The
long
term
outlook
for
these
children
depends
on the
the
amout of
functional
lung
tissue
present,
the size
of the
hole in
the
diaphragm
and
whether
or not
they are
born
with
other
birth
defects
or
genetic
problems.
Some
babies
have
long-term
problems
and need
regular
follow-up
care
after
they
return
home.
Some of
the
medical
problems
can
include
high-frequency
hearing
loss,
chronic
lung
disease,
gastroesophageal
reflux
and
other
developmental
problems.
Many of
these
problems
can be
treated
with
medications
and
therapy
allowing
the
child to
have a
better
quality
of life.
Furthermore,
diagnosing
the
problem
before
birth
increases
their
chances
of
survival
and a
longer
life
expectancy
since
treatment
can
begin as
soon as
they are
born.
Unfortunately,
the
worst
cases
are
sometimes
not
compatible
with
life,
despite
the best
treatments
available
today.
