Fetal Conditions Treated

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Congenital Diaphragmatic Hernia (CDH)

Congenital diaphragmatic hernia (CDH) is a sporadic birth defect that occurs in 1 in 3,000
pregnancies. The diaphragmatic defect produces herniation of the abdominal organs
into the thoracic cavity, which results in pulmonary hypoplasia (underdevelopment of the
lungs). Approximately 80% of CDH’s are left-sided, 15% right-sided and 5% are bilateral.
Overall perinatal mortality risk remains as high as 50% despite advances in prenatal diag-
nosis and neonatal intensive care.

In view of the high morbidity and mortality, in utero (in the womb) correction of CDH has
been attempted. Animal experiments had shown that pulmonary hypoplasia could be
prevented, thereby allowing for lung growth. It is common knowledge that the fetus has
a net outward flow movement of fluid from the lungs. This notion was used to consider
intentional obstruction of the fetal airway to produce expansion of the lungs to avoid
the development of pulmonary hypoplasia. Experimental data have suggested that lung
growth can be enhanced following this intervention due to mechanical stretching forces
from the increased hydrostatic lung fluid pressure. However, despite a gross increase in
lung mass, sustained fetal tracheal occlusion can cause abnormalities in the lung as well.

Understanding that normal fetal lung growth and maturation may be related to both tonic
stretching forces due to in utero pulmonary fluid secretion as well as cyclic stretching
forces from intermittent fetal breathing activity, the concept of intermittent tracheal occlu-
sion arose. The timing of the surgery and the method to occlude the trachea have been
the subject of much research. The current clinical strategy is to provide tracheal occlu-
sion between weeks 26-28 followed by removal of the occlusion at 34 weeks gestation,
although there remains controversy regarding timing and duration of occlusion.

Recent studies on human fetuses with CDH have shown success in treatment using fetal
endoscopic tracheal occlusion. We are currently in the process of setting up a study to
perform percutaneous endoscopic placement using a novel tracheal occlusive device.
Our objective is to evaluate by observation the use of an intraluminal device for the treat-
ment of congenital diaphragmatic hernia in utero.

Inclusion Criteria

Patients with congenital diaphragmatic hernia will be eligible for the study if they meet the
following criteria:

1. Absence of other major congenital anomalies (e.g., congenital heart disease).

MIAMI 1611 N.W. 12th Avenue I Holtz Children’s Hospital, Suite 4070 I Miami, FL 33136
LOS ANGELES Doctor’s Tower I 1300 N. Vermont Avenue, Suite 706 I Los Angeles, CA 90027
 Congenital Diaphragmatic Hernia (CDH)

2. Normal karyotype.
3. Thin/non-obese complexion (<180 lbs).
4. Local patient, or patient willing to remain in Miami for the duration of the pregnancy.
5. Gestational age at time of diagnosis: less than 25 weeks of gestation.
6. Gestational age up to 30 6/7 weeks.
7. Any severe congenital diaphragmatic hernia: a) right-sided hernia; or b) left-sided hernia with a
small right lung volume (lung-to-head circumference ratio of less than or equal to 0.9); or c) left-
sided hernia with liver herniation into the left hermithorax (“liver-up”).

Exclusion Criteria

1. Patients unwilling to participate in the study or to be managed by our group in Miami.

2. Presence of major congenital anomalies.
3. Abnormal karyotype.
4. Ruptured membranes.
5. Chorioamnionitis.