Congenital diaphragmatic hernia (CDH) is typically discovered during the 20-week ultrasound. The CDH experts at Johns Hopkins All Children's Hospital can answer your questions about CDH and guide you through your baby’s treatment options.
Infant without Congenital Diaphragmatic Hernia
Infant with Congenital Diaphragmatic Hernia*
*The illustration above showing an infant with CDH shows Left CDH, with the small bowel, colon, stomach, spleen and portion of the liver in the chest. The heart is also shifted to the right, causing additional compression and growth restriction of the right lung. Artist retains copyright and reproduction rights (©Robert Margulies)
Congenital diaphragmatic hernia (CDH) is a birth defect in which the diaphragm—the muscle that separates the abdomen from the chest—does not develop completely. This causes a hole where abdominal organs can migrate into the chest. When that happens, it doesn’t leave enough space for the lungs to develop normally, making it hard for the baby to breath.
CDH is typically found during the 20-week ultrasound. CDH affects about one in every 3,000 pregnancies, occurring with relatively high frequency for a birth defect.
Each CDH case can vary greatly
The hole caused by the undeveloped diaphragm may be small and allow a limited amount of intestine into the chest. Or it may be large and allow a greater amount of abdominal contents into the chest. This can include the intestine, stomach, spleen and liver. The amount of abdominal contents that migrate into the chest affects whether the lungs are moderately small or severely small.
Our experience has shown that the vast majority of CDH infants do have enough lung to survive, but it requires expert management to help those with very small lungs survive. That is why parents who discover their baby has CDH travel from all over the country, and sometimes the world, to reach the care we provide here in the Johns Hopkins All Children’s Congenital Diaphragmatic Hernia Program.
Treatment is rooted in hope and experience
Our approach to treatment is rooted first and foremost in the belief that babies with CDH can survive. Treatment requires surgery to gently move the organs that have migrated back into the abdomen and close the hole in the diaphragm. This creates space in which the lungs can then grow, with careful care and monitoring from your baby’s physician team.
Our team uses a “kinder, gentler ventilation” for CDH infants born with critically small and fragile lungs. This process prevents harm to the delicate lungs of our patients. Extracorporeal membrane oxygenation (ECMO), a long-term form of heart-lung bypass, is used when a baby’s lungs aren’t able to rid the body of carbon dioxide or provide the body with enough oxygen. Babies requiring ECMO have their CDH repaired within the first 36 hours after ECMO initiation.
Optimal timing for repairing CDH
David Kays, M.D., and his team have spent decades studying the precise timing for CDH repair, which allows lungs to grow to the fullest extent possible. Studies on early repair versus late repair show how the severity of CDH, determined by the position of the liver, affects outcomes on those decisions.
The success of CDH treatment often depends on whether other anomalies are present. CDH by itself or with other non-life-threatening conditions, such as a single kidney instead of two, can often result in a successful outcome with proper management.
In 10 to 12 percent of cases, we find bilateral CDH—meaning it is on both sides of the abdomen—or CDH with other life-threatening conditions such as severe heart defects or major genetic or chromosomal defects. These additional life-threatening defects profoundly influence the outcomes, and these cases are not included in trials of prenatal interventions at other programs.
We evaluate cases where additional life-threatening conditions are present on an individual basis, but the very low survival and high-risk outcomes in these patients is directly related to the additional anomalies, not the treatment provided. Therefore, the survival and outcome data referred to here includes only cases of CDH by itself or CDH with other non-life-threatening conditions unless otherwise noted.
Read inspiring stories about our families:
A doctor and his team go the extra mile to improve the odds for a baby with life-threatening congenital diaphragmatic hernia
A first birthday is especially sweet for three babies born with life-threatening congenital diaphragmatic hernia.
Pediatric surgeons at Johns Hopkins All Children’s Hospital are pushing survival rates for infants with CDH above 90 percent.
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