Summer 2005

Congenital Diaphragmatic Hernia Requires Care from Varied Specialists

Kerilyn Nobuhara, M.D.

With an incidence of one case for every 2,500 live births, congenital diaphragmatic hernia (CDH) is common enough that most pediatricians will encounter a case within their practices, but infrequent enough to keep them from gaining adequate experience in caring for children with the condition. What is becoming increasingly clear is that clinical experience is highly important, not only for the survival of these patients, but also for positive long-term outcomes. The intrusion of visceral organs into the chest cavity that occurs in CDH can cause multiple problems before birth and long after. A variety of specialists are needed to provide optimal care to CDH children.

Multidisciplinary Clinic

"People who deal with CDH realize that children are likely to have many comorbid diseases, which is why we have a multidisciplinary CDH clinic," says Kerilyn Nobuhara, M.D., an expert in fetal and neonatal surgery at UCSF Benioff Children's Hospital.

CDH occurs when a developmental defect leaves an opening in the diaphragm. During fetal gestation, portions of the liver, stomach and intestine can intrude into the chest cavity. This intrusion may lead to underdevelopment of the lungs. In addition, syndromic conditions may affect other organ systems, such as the kidneys, brain, vertebrae and limbs.

The CDH clinic at UCSF Benioff Children's Hospital includes Roberta Keller, M.D., and Robert Piecuch, M.D., neonatologists; Maria Heatherton, pediatric nutritionist; Suzanne Golden, M.D., and Carol Leonard, M.D., developmental pediatricians; Anne Slavotinek, M.D., Ph.D., geneticist; Sam Hawgood, M.B., B.S., Kerilyn Nobuhara, M.D. and Peggy Kelly, Ph.D., clinical psychologist. Robin Bisgaard is the clinic coordinator.

Fetal and Neonatal Care

The UCSF prenatal diagnostics team has established criteria for ranking the severity of CDH in the fetus. There is a spectrum of possible diagnoses that ranges from "mild CDH" to "not likely to survive." The prenatal diagnostics team has developed sufficient expertise to be able to recommend whether a mother should deliver at UCSF or whether it will be safe to deliver in her local hospital.

While fetal intervention may be indicated for select cases of CDH, the majority are treated after birth. Due to the complexity of the disease and its comorbid conditions, most infants should be delivered at a tertiary care center with experience in caring for patients with CDH.

"It's a lot easier to transport the expectant mother, rather than to transport a critically ill neonate," Nobuhara says. A randomized clinical trial showed that infants with severe to moderate CDH who were delivered at UCSF did far better than babies who were delivered to local NICUs and then transported to UCSF for surgery.

The first and most important consideration for neonates with CDH is assistance for their underdeveloped lung function. In severe cases, this goes beyond mechanical ventilators to ECMO units only available at tertiary care centers.

Depending on the severity of the underlying disease, the operative repair for CDH is performed after a neonate is stabilized, generally within the first week of life. The vast majority of CDH patients require mechanical ventilation, frequently for two to three weeks. The newborn may stay in the hospital for a month or more.

The CDH team evaluates the infant carefully to identify any of the broad array of complications that can afflict CDH babies.

"Congenital diaphragmatic hernia is a subtle condition," Nobuhara says. "If you don't know what you are looking for, you probably won't see all the problems."

Follow-up Care

With the only CDH follow-up clinic on the West Coast, UCSF clinicians have a lot of experience in evaluating the changing constellation of disorders that occur as CDH babies grow. The six-month checkup is particularly important, since hearing is evaluated. Unidentified auditory problems can impair cognitive and social development.

How long the follow-up period lasts depends a lot on the individual case, Nobuhara says. "We have school-aged children that are still coming in. Gastrointestinal reflux, hearing and skeletal problems keep popping up as they grow."

For more information, contact Dr. Nobuhara at (415) 476-4086.

Related Information

News Releases

National Expert Named Chair of Ob-Gyn, Reproductive Sciences
Dr. Linda Giudice, a nationally renowned physician-scientist focused on women's health, has been named the chair of the Department of Obstetrics, Gynecology and Reproductive Sciences at the UCSF School of Medicine.

New Genetic Disease Sheds Light on Body's Water Balance
Two infant boys whose bodies were overloaded with excess fluid have led UCSF pediatricians to discover a new genetic disease. In the process, they discovered a rare mutation in which different substitutions in a single amino acid causes two different, opposite genetic disorders.