Congenital Diaphragmatic Hernia: A World Leader in Research and Care

Children's Hospital of Philadelphia cares for more babies born with congenital diaphragmatic hernia than any hospital in the world. https://www.chop.edu/CDH

Congenital diaphragmatic hernia (CDH) is a birth defect that occurs when the diaphragm, the muscle that separates the chest from the abdomen, fails to close when the baby is in the womb. This opening allows the stomach, intestines and/or liver to move into the chest, impacting lung development. Small lungs (pulmonary hypoplasia) that have less developed blood vessels can cause high blood pressure in the lungs (pulmonary hypertension).

Since 1995, the Richard D. Wood Jr. Center for Fetal Diagnosis and Treatment (CFDT) at Children’s Hospital of Philadelphia (CHOP) has established one of the best programs in the world to understand and treat CDH. The CFDT delivers 50 patients with CDH every year, the most of any program, and what the team learns from this high volume has been translated into breakthroughs in care.

In this video, Holly L. Hedrick, MD — a CHOP Attending Surgeon who specializes in CDH — discusses how the advances pioneered by the Center have pushed CDH care to new frontiers and improved the life course for children. From pioneering fetal imaging that helps predict CDH severity and monitor the condition prenatally, to building the Garbose Family Special Delivery Unit which gives babies born with CDH immediate access to an expert neonatal team, to creating the Pulmonary Hypoplasia Program to provide the expert, interdisciplinary follow-up care children born with CDH often require into adolescence to manage pulmonary hypoplasia and other health issues.

Dr. Hedrick explains that the CFDT team continues to study CDH and is on the cusp of revolutionary advances. She describes some of those innovations in this video.

CDH is a congenital anomaly that occurs in 1 of every 3,000 live births. To ensure an accurate CDH diagnosis and the best outcome, it is important to visit a fetal therapy center experienced in evaluating and caring for pregnancies affected by CDH. The CFDT has cared for more babies with CDH than any other team in the U.S. The center's large multidisciplinary team, including maternal-fetal medicine specialists, neonatologists, advanced practice nurses, fetal therapy nurse coordinators, genetic counselors, fetal imaging specialists, labor and delivery nurses, anesthesiologists, and fetal cardiologists, has a level of ongoing collaboration that is unmatched.

The center’s fetal imaging specialists use advanced prenatal imaging techniques to make a precise diagnosis. In most cases, the pregnancy is followed closely by the center’s obstetrical team until planned delivery. For select cases of severe CDH, the center offers fetoscopic endoluminal tracheal occlusion (FETO), a fetal surgery procedure that may improve outcomes by allowing the lungs to grow more before birth. Babies are born in the Garbose Family Special Delivery Unit, the world’s first birth facility in a freestanding pediatric hospital designed for healthy mothers carrying babies with known birth defects. After delivery, the CDH baby is immediately stabilized by a specialized Newborn/Infant Stabilization Team and Neonatal Surgical Team — the only team of its kind in the world. The baby is taken to CHOP’s Harriet and Ronald Lassin Newborn/Infant Intensive Care Unit (N/IICU), ranked among the best in the nation. Once the baby is strong enough, congenital diaphragmatic hernia repair of the hole in the diaphragm occurs at the N/IICU bedside, as it’s safer for the baby not to be transported to another location.

Babies born with CDH may require extracorporeal membrane oxygenation (ECMO), a heart/lung bypass machine. CHOP’s ECMO Center has been designated a Center of Excellence by the Extracorporeal Life Support Organization since 2008. The center has had more than 1,500 ECMO cases since opening in 1990, nearly 250 being babies with CDH.

CHOP’s unique Pulmonary Hypoplasia Program (PHP) provides comprehensive, interdisciplinary follow-up care for nearly 600 children with CDH well into school age. The team is made up of specialists from general surgery, developmental pediatrics, pulmonology, cardiology, psychology, nutrition, audiology, social services and others as needed.

The center offers support services to help families overcome challenges in receiving care, cope with their baby's diagnosis and treatment, and access resources closer to home. A dedicated psychosocial services team, including a clinical psychologist and social workers, provides emotional support, individualized and couple's counseling, and supportive therapy.