Congenital Diaphragmatic Hernia

Congenital diaphragmatic hernia (CDH) occurs when the muscle of the diaphragm (the muscle that separates the chest from the abdomen) fails to close during early development. When the lungs are compressed by the abdominal organs, there is the risk of the mass limiting normal lung growth, resulting in pulmonary hypoplasia (underdeveloped lungs). This highly complex disease can also range widely in severity and outcomes.

Prenatal Diagnosis

If you are referred for a suspected CDH, our team will perform a detailed Level II ultrasound to evaluate the findings, look at the remaining lung size and position of the liver, and calculate a lung-to-head ratio (LHR). Based on these findings, we can help determine the follow-up needed and the likelihood of complications after birth. You will be offered genetic testing as some children with this condition will have a genetic disorder.

Following Closely, Preparing for Birth

As your pregnancy progresses, you will need a variety of follow-up and care. The UR Medicine Maternal-Fetal Medicine team’s fetal care coordinator will help coordinate all of this with you.   

You will have a fetal echocardiogram with UR Medicine's Pediatric Cardiology team. This can be a very difficult evaluation as the heart is often pushed to the side (malpositioned) by the pressure from the abdominal organs. Later in pregnancy, you will undergo a fetal MRI to look at lung volumes later in pregnancy.   

You will meet with the Perinatal Supportive Care team to help prepare for birth. Our dedicated CDH team will also meet and review plans for delivery to be ready for your child’s care needs.

Newborn Care and Delivery

Babies with CDH are at high risk for complications during and after delivery, including pulmonary hypoplasia (underdeveloped lungs) and high blood pressure. The diaphragm will also need to be repaired. In some cases when the defect is large, especially when the liver is in the chest, special breathing assistance including ECMO (extracorporeal membrane oxygenation) is needed.

Extracorporeal Membrane Oxygenation (ECMO)

Children born with this condition require surgery, and some will require ECMO (extracorporeal membrane oxygenation) for oxygenation while their lungs recover. We are the only center in the Finger Lakes region that offers neonatal ECMO services (2 - 5 cases/year) with a dedicated ECMO team for these critically ill infants.

Our Experience

Our experienced maternal and fetal care specialists and UR Medicine's Golisano Children's Hospital offer a complete range of diagnostic and treatment options to care for babies with this condition.  

This a very rare defect, affecting only 1600 babies in the U.S. each year. Over the last five years, the our teams have cared for more than 50 fetuses and infants with this condition; more than anyone else in the region.

Golisano Children's Hospital's Pediatric Surgery team has decades of experience operating on infants and children, and performs approximately 2,000 operative procedures each year with excellent survival rates and outcomes.