New Hope for a Complex Birth Defect

Published on in Children's View

girl on beach hanging upside down smiling Three-year-old Parker (below) and 11-year-old Peyton (above) were both diagnosed prenatally with congenital diaphragmatic hernia and, after being born at CHOP, needed to be placed on a life-support machine. Congenital diaphragmatic hernia (CDH) is a complex and life-threatening birth defect usually discovered at an 18-week ultrasound visit. Children's Hospital of Philadelphia (CHOP) cares for more children with this condition than any other academic medical center in the world. The CDH Program was recently designated as one of the hospital’s Frontier Programs, a trailblazing group of initiatives pioneering new advances in children’s health.

One in 2,500 families learns before birth that their baby has CDH. Babies with CDH have a hole in their diaphragm. As a result, the liver, spleen, stomach and intestines shift and exert pressure on the heart and lungs. Now restricted, the lungs remain small and underdeveloped. At birth, a normal lung is roughly the size of a baseball, but babies born with CDH can have lungs as small as a penny.

young girl outside at playground playing with chalk Thanks to new diagnostics and therapeutics pioneered at CHOP, the outcome for babies with CDH has improved greatly. However, these children still face significant risks of death and long-term complications. According to the Centers for Disease Control and Prevention, CDH is the most common cause of in-hospital neonatal deaths, and it is the costliest non-cardiac-related birth defect.

CHOP is developing an innovative, minimally invasive fetal treatment to help the lungs grow, because with strong lungs come deep, healthy breaths. CHOP leads the way in neurodevelopmental research related to CDH. Gifts from donors, including James and Molly North, laid the foundation for this research to begin, helping to improve outcomes for children with CDH and setting the stage for the program to grow.

Now with Frontier Program funding, the CDH Program can establish itself as the global leader in CDH medical research and clinical practice. The program’s goal is to bring new hope to children and families everywhere.

Learn more about CHOP’s Frontier Programs here.