Congenital diaphragmatic hernia (CDH) is a defect that results in an often large hole in the diaphragm, more commonly on the left side, in about one in 3,000 pregnancies. Depending on its severity, CDH allows organs such as the intestines, stomach and even the liver to move into the infant’s chest cavity, threatening lung development.

Many believe the survival prospects for an infant with CDH are bleak, but Johns Hopkins All Children’s offers hope. While the national survival rate for this condition is between 65 and 70 percent, infants treated at Johns Hopkins All Children’s experience a survival rate of greater than 90 percent. A significant factor contributing to this increased survival rate is the approach taken by Johns Hopkins All Children’s surgeons and medical staff.

“When we look at an infant with a prenatal diagnosis of CDH, the No. 1 thing we do is believe they can survive,” says David Kays, M.D., FAAP, FACS, professor of surgery, director of the CDH program and director of the extracorporeal life support program at Johns Hopkins All Children’s. “We also believe they must have their CDH repaired. To the layperson this may seem obvious, but there is significant concern nationally that repair surgery makes an already sick child less stable. We know, however, that the more severe a child is on the spectrum of CDH, the more critical it is to perform the repair surgery.” 

Following the Process

CDH presents on a spectrum of severity, based on how much the condition has affected an infant’s lung development.

“The more severe the patient is, the more reluctant most surgeons are to do the repair, out of fear of making the infant worse,” Kays says. “This is where we differ from the national conversation. Surgery doesn’t make little lungs into big lungs, but it helps little lungs be as big as they can. Repair surgery is critical to helping these infants use the lungs they do have.” 

Kays’ approach has five key components:

• Believe the infant can survive
• Prevention of any damage to the lungs through resuscitation and careful ventilation upon birth
• Repair surgery conducted at most optimal time for repair benefits, with minimized risk to the infant
• Use of high-quality extracorporeal membrane oxygenation (ECMO) when needed
• ECMO offered to even the most severely affected infants

Looking to the Future

“Our long-term goal is to have a large program here—one that includes publishing research, and teaching fellows and residents how to better manage these patients to improve survival rates for those who can’t afford to travel across the country for care,” says Paul Colombani, M.D., chairman of the department of surgery at Johns Hopkins All Children’s. “As an institution, we’re trying to push care forward as much as we can. Our CDH program is a great example of that.”

To date, Kays has cared for more than 360 CDH infants, including more than 40 since coming to Johns Hopkins All Children’s Hospital in 2015. 

“The knowledge and expertise that kind of experience provides allows us to delve deeper into the management of these infants,” Kays says. “We hope to reshape the conversation, and shift focus from ‘Can they survive?’ to ‘How can we maximize their survival potential?’ because it far exceeds what most physicians have been taught.”

Congenital Diaphragmatic Hernia Program at Johns Hopkins All Children's Hospital

Dr. David Kays, director of Johns Hopkins All Children’s Congenital Diaphragmatic Hernia Program, and his multi-disciplinary care team are responsible for some of the best survival outcomes in CDH patients. The team treats each CDH patient differently and doesn’t have a “one size fits all” protocol.