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FETAL DIAGNOSES & TREATMENT
Congenital diaphragmatic hernia (CDH) occurs
when the diaphragm does not fully form,
allowing abdominal organs like the stomach,
spleen, liver, and intestines to enter the
chest cavity. The defect can occur on the
right or left side or both, but left side CDH
is most common. Babies with CDH have small,
underdeveloped lungs which is largely due to
the presence of the abdominal organs in the
chest, though other causes may contribute as
well. One in every 2,500 babies is afflicted
by CDH, which can cause minor lasting health
problems such as feeding aversions, asthma,
scoliosis and short-term oxygen dependency –
or major ongoing health problems, including
ventilator dependency, brain damage, hearing
problems and death.
Although most CDH cases may be isolated,
further evaluation is indicated to look for
other structural and chromosomal anomalies
that may adversely impact the outcome. At
present, the best ways to predict the outcome
for CDH are the presence or absence of liver
herniation into the chest across the
diaphragmatic defect (“liver up” versus “liver
down”) and the measurement of the lung/head
ratio by ultrasound. According to a
prospective study involving patients with
liver-down CDH, the survival rate is about 75%
to 80% with either fetal or postnatal
treatment (J Pediatr Surg 32:1637, 1997). A
retrospective study of 48 patients with
prenatally-diagnosed CDH found 93% survival in
the liver down group versus a 43% survival in
the liver-up group (Prenat Diagn 18:1138,
1998). The data suggests that the absence of
liver herniation predicts a favorable
prognosis, and most of these infants should do
well with intensive postnatal therapy.
Prenatal evaluation of CDH consists of a level
II ultrasound, ultrafast fetal MRI, fetal
chromosomal studies, and fetal echocardiogram.
Once the referral is made to the Texas Children's
Fetal Center, a fetal /pediatric surgeon
reviews your records and orders a level II
ultrasound and an ultrafast MRI. Often a fetal
echocardiogram and consultation with a
pediatric cardiologist is also ordered.
Consultation with a geneticist or
perinatologist is requested as necessary.
Chromosomal studies will also be recommended
if not done prior to referral. After the
diagnostic evaluation, the fetal/pediatric
surgeon will discuss with you and your family
the results, prognosis, prenatal management,
and postnatal treatment options. You, your
perinatologist and your pediatric surgeon will
develop a comprehensive plan of care. You will
also receive educational information and a
tour of the Neonatal Intensive Care Unit,
which offers a variety of suitable ventilatory
techniques and Extra-Corporeal Membrane
Oxygenation (ECMO). You will meet with an ECMO
specialist/neonatologist who will discuss ECMO
and its risks and benefits.
The expected outcome of CDH, based on
scientific data and knowledge gained from
prenatal evaluation, is discussed in detail
with the family. Accurate and detailed
counseling is provided to enable the family to
make informed decisions about the pregnancy.
For CDH that is part of a syndrome, or those
associated with other congenital anomalies,
survival maybe rare.
Depending on multiple factors, fetal
intervention may or may not be an appropriate
treatment for CDH. At present, there is no
clearly defined role for fetal surgery in the
treatment of patients with CDH in the United
States. Postnatal management includes prenatal
transport and delivery at a specialized
treatment center that may offer protocolized,
advanced neonatal care using gentle
ventilation strategies, and availability of
high-frequency ventilation and ECMO if needed.
Patients have access to this high level
specialized care through the Texas Children's
Fetal Center.
Timing of surgical repair of the diaphragmatic
defect depends on the infant’s condition. An
important variable is the degree of underlying
lung underdevelopment (hypoplasia). Often
repair is delayed until the infant has
stabilized which could be hours, a few days,
or weeks. If the infant deteriorates, ECMO can
be initiated and in some cases, repair can be
done while the infant is on ECMO. Weaning from
ECMO can occur post-operatively.
Multidisciplinary long-term follow up is
provided through infancy and childhood.
Potential long-term complications are sought
and addressed. Neurodevelopmental assessments
and appropriate interventions are provided as
needed.
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