Congenital Diaphragmatic Hernia (CDH)
Overview
Severe left-sided congenital diaphragmatic hernia.
© CHOP/CFDT
View larger image » Congenital Diaphragmatic Hernia (CDH) is a condition in which a hole in the diaphragm allows abdominal organs to move into the chest and restrict lung development. Congenital diaphragmatic hernia (CDH) is a birth defect that occurs in about one in every 2,500 live births.
It is characterized by the development, very early in gestation, of a hole in the diaphragm, the breathing muscle that separates the chest from the abdomen. The hole occurs most commonly on the left side.
Severe left-sided congenital diaphragmatic hernia.
© CHOP/CFDT
View larger image »
As a result, the intestines and other organs in the abdomen can move into the chest and compress the developing lungs. This prevents the lungs from growing and developing normally, which can cause reduced blood flow to the lungs and pulmonary hypertension (high blood pressure in the pulmonary circulation).
It can be life-threatening unless treated.
Diagnosis
Ultrasound of a congenital diaphragmatic hernia.
© CHOP/CFDT
View larger image »As with other birth defects, most congenital diaphragmatic hernias (CDHs) are typically discovered by routine ultrasound at 16 to 18 weeks gestation. Families referred to The Children's Hospital of Philadelphia's Center for Fetal Diagnosis and Treatment undergo a comprehensive, one-day evaluation that includes:
High-definition level II ultrasound
To assess the defect and to determine the fetus’ lung-to-head circumference ratio (LHR), a measure that can help predict the severity of lung problems associated with CDH 
This ultrafast fetal MRI shows with certainty liver herniation into chest. © CHOP/CFDT
View larger image »
Ultrafast fetal MRI
An imaging technique advanced at CHOP that checks the position of the abdominal organs, especially the liver, and measures protrusion into the chest
Fetal chromosome studies
To detect the presence of any genetic disorders
Fetal echocardiogram
A test that uses sound waves to create an image of the heart to check for congenital heart disease, a condition that can occur simultaneously with CDH
The severity of congenital diaphragmatic hernia (CDH) is largely determined by the position of the liver and the LHR. Outcomes are generally better in cases where the liver remains down in the abdomen and the LHR is higher. The overall survival rate is 70 percent.
Monitoring and treatment
After evaluation, families meet with our multidisciplinary team. The purpose of this meeting is to review test results, confirm the diagnosis, explain treatment options and potential outcomes, and answer any questions the family has. The team develops a treatment plan tailored to the mother’s and fetus’ specific needs. Families also receive educational information about CDH and can tour CHOP’s Garbose Family Special Delivery Unit and the Ronald and Harriet Lassen Newborn/Infant Intensive Care Unit.
In most cases, the pregnancy will be closely monitored for its duration, with more frequent surveillance in the third trimester. Surgical repair of CDH takes place after birth.
In select, severe cases in which most of the liver has moved into the chest, severely restricting lung growth, fetal therapy may be offered.
Delivery
Planned delivery of babies with CDH takes place in CHOP’s Garbose Family Special Delivery Unit (SDU), allowing for the highest level of immediate care for the newborn, as well as expert obstetric services for the mother — all within the same pediatric hospital. The world’s first birth facility designed exclusively for pregnancies complicated by birth defects, the SDU is a vital part of our team’s ability to provide comprehensive care.
Most CDH babies are delivered vaginally. The neonatal team is present at the delivery since the baby will require immediate stabilization and, often, specialized ventilation (breathing) assistance. The neonatal team at CHOP has extensive experience in ventilation techniques for babies with CDH.
Hospital stay
Once stabilized, the baby is transported to the Newborn/Infant Intensive Care Unit (N/IICU), where the team continues to evaluate and carefully monitor the newborn’s condition. Babies with severely compromised or fragile lungs may require ECMO (Extracorporeal Membrane Oxygenation), a temporary bypass technique used to oxygenate the blood and allow the lungs to rest, for several days or even weeks.
Surgical repair of CDH depends on the baby’s progress in the days following birth, and can occur as early as three days of life. Surgery is performed in the N/IICU, avoiding the risks of transport to the operating room. An incision is made just below the baby’s rib cage, the organs in the chest are guided back down into the abdomen and the hole in the diaphragm is sewn closed. The space created in the chest allows the lungs to continue to grow; children can experience compensatory lung growth until age 8 or 9.
For babies with larger defects or completely lacking a diaphragm on one side, the hole is closed with a soft tissue patch. As the child grows, the condition of the patch will be regularly monitored by doctors to ensure that it remains intact.
Length of stay in the N/IICU can vary widely. Some infants need mechanical ventilation only briefly, have the surgical repair and can go home in a relatively short period of time. Others may need ventilation or ECMO for prolonged periods and require longer hospital stays.
Follow-up care
All CDH patients require ongoing follow-up care. Depending on the severity of the initial defect and the type of repair, follow-up may be managed by the child’s primary pediatrician or may require more specialized care. Many children with CDH develop pulmonary hypoplasia, a condition characterized by small, underdeveloped lungs that can affect not only breathing, but also heart function, ability to feed and overall development. The Children’s Hospital of Philadelphia has created a unique Pulmonary Hypoplasia Program that provides comprehensive, interdisciplinary care specifically focused on this challenging condition. The program follows children throughout infancy and well into school age.
Updated: June 2011
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