Congenital diaphragmatic hernia

One in every 3,000 babies is born with congenital diaphragmatic hernia (CDH). This developmental defect occurs during formation of the fetal diaphragm. It can be diagnosed by prenatal ultrasound, sometimes as early as the sixteenth week of pregnancy.

This simple hole in the muscle separating the chest and abdomen can have devastating consequences for the unborn child. The defect allows migration of abdominal organs, including the bowel, the stomach, the spleen and sometimes the liver into the chest on the affected side. This may severely limit the growth of the baby's lungs, causing life-threatening respiratory compromise at birth. Nationally, 50 percent or more of the affected babies die in the first days or weeks of life. There is considerably more hope for these unborn babies at Shands Children's Hospital at the University of Florida.

Since 1992, the CDH survival rate at Shands Children’s Hospital is unprecedented. According to the Annals of Surgery (September 1999), the survival rate was 89% (47 of 53) of treated patients and 92% (23 of 25) of consecutive patients with isolated CDH who were both born and treated at Shands Children’s Hospital.

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Treatment of CDH at University of Florida
Babies with CDH are born with lungs that are smaller than normal. The birth defect is a spectrum from mild to severe. This depends on how early in gestation the hernitaion develops, how big the hole is and how much abdominal content herniates into the chest.

The affected lungs are:

• Hypoplastic (too small)
• Biochemically immature (don't make all the chemical they should)
• Structurally immature (aren't normally formed)
• Contain of blood vessels that have too much muscle in the walls. This can lead to abnormal constriction of the blood vessels, causing high resistance to flow in these important vessels, a condition call pulmonary hypertension.

Successfully treating these babies requires a complete understanding of the problems encountered with these lungs and recognition that some of the therapies still considered standard at many hospitals are actually harmful.

The Shands Children's Hospital treatment strategy includes the use of:

• Gentle ventilation therapy, less aggressive than standard hyperventilation, to protect the fragile, underdeveloped lungs
• A delay in corrective surgery from one to five days, to allow sick newborns to recover from the stress of birth before facing the stress of surgery as well
• Nitric oxide, a powerful inhaled gas, to help dilate the blood vessels in the lungs and provide short-term improvement and stabilization in a critically ill baby who is requiring escalating support
• A heart-lung bypass procedure called EMCO (extra-corporeal membrane oxygenation) to support the most severely affected (30 percent) of these babies, to take over the work of the heart and lungs until full adaptation to life outside the womb has occurred
• Strict elimination of hyperventilation
• One physician, as much as possible, oversees the care from birth to discharge, including the ventilation, surgery, and ECMO, if needed as much as possible. This treatment consistency is rarely encountered in this era of sub-specialized care.

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Prognosis
Both the short- and long-term prognoses are related to the severity of the defect. Patients within the milder half of the spectrum virtually all survive, and few, if any, require ECMO, as long as no associated anomalies or complications interfere. Hospitalization ranges from three to five weeks in this group.

Patients in the more severe end of the spectrum have both increased mortality and increased risk for requiring EMCO. Most will survive and many will need ECMO. Survivors from this group will often have feeding difficulties and gastro-esophageal reflux. Some will require secondary surgery to control the reflux. Initial hospitalization range from five to 10 weeks in this group. Neurologic (brain) injury from periods of low oxygen in the blood is of greater concern in these sicker patients. Overall, the outlook is excellent and most long-term problems, such as feeding issues, can be managed and eliminated over time.

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Follow-up
Local and regional patients are followed in the Pediatric Surgery/CDH follow-up clinic at the UF several times over the first few years and yearly thereafter. Growth, feeding, hearing, lung and heart function and overall nutrition are carefully monitored. Periodic chest X-rays, EKGs and echocardiograms are performed to assess lung and heart function and to monitor for complications.

Patients who travel from other parts of the country for management have most of their follow-up provided by their local physicians, guided by the pediatric surgeons at the UF. They are also asked to return to Gainesville yearly for a thorough and comprehensive re-examination.

Follow-up at Shands at the University of Florida is maintained to adulthood.

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Support
There is an active SCH parents support group, which has been organized by the families treated for CDH at Shands Children's Hospital. This group meets quarterly and provides information and emotional support to parents in various stages of dealing with the diagnosis of and treatment of a fetus or child with CDH.

Periodic large-scale reunions of CDH families brought together by treatment at Shands Children's Hospital have been rewarding for families and medical personnel as well.

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CDH team

David W. Kays, M.D.
UF College of Medicine Associate Professor & Chief, Division of Pediatric Surgery

Dr. Kays is Medical Director of the ECMO program and leads the CDH team. His main clinical and academic interest is in clinical management of congenital diaphragmatic hernia, and he is nationally recognized for his expertise and contributions in this area.

Douglas S. Richards M.D.
UF College of Medicine professor, Department of Obstetrics and Gynecology

Dr. Richards is a specialist in maternal-fetal medicine. He is Director of Obstetrical and Gynecologic Ultrasound, and is a nationally recognized expert in this field. He is the point of first contact for many CDH referrals.

Mike K. Chen, M.D.
UF College of Medicine Associate Professor, Department of Surgery (Pediatric Surgery)

Dr. Chen has a strong clinical and research interest in CDH and ECMO. He has published work in cellular metabolism and nutrition in pediatric cancers.

Elizabeth A. Beierle, M.D.
UF College of Medicine assistant professor, Department of Surgery (Pediatric Surgery)

Dr. Beierle has a strong clinical and research interest in CDH and ECMO. She has published work on lung liquid production in the animal model of CDH, as well as on cellular metabolism in pediatric cancers.

Other critical members of the CDH team include:

• Anne Marie Fenn, R.N., high-risk OB coordinator
• Willa Drummond, M.D., neonatologist and neonatal liaison with CDH team
• Michael Weiss, M.D., neonatologist and neonatal liaison with CDH team
• Karla Stringfellow, ECMO coordinator

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Information
If you are interested in more information on the treatment programs and options offered by physicians practicing at Shands at the University of Florida, you are invited to fill out and submit the following form. It will be routed to the appropriate practitioner for reply. Please rest assured that your information will be treated confidentially. Thank you for your interest in Shands HealthCare.