What is CDH?

Congenital diaphragmatic hernia (CDH) occurs in an unborn baby when there is a hole in, or incomplete formation of, the diaphragm (the muscle under the lungs that is responsible for breathing). This hole allows the abdominal organs (eg. spleen, liver, intestines, stomach) to move into the chest, and prevents the lungs from developing normally because of the lack of space to grow. The defect can occur on the left side, right side, or both sides. The defect is usually discovered on ultrasound before the baby is born.

CDH affects about 1 in every 3,600 babies (about 1,100 cases in the U.S. each year), and occurs as often as cystic fibrosis and trisomy 18, yet most have never heard of it. On average, 70% of these babies survive (up from 50% only a few years ago).

How is CDH evaluated and diagnosed?

Typically CDH is discovered on ultrasound, and less often after birth. Once discovered, parents are referred to Maternal Fetal Medicine for more evaluation and more diagnostic tests. A fetal echocardiogram will be ordered to evaluate the baby’s heart, and a fetal MRI to determine which organs, specifically the liver, are in the baby’s chest. Sometimes doctors can also get an idea of your baby’s lung size, though often it is difficult to see with all the organs in the way. High resolution ultrasounds will be performed numerous times to determine the lung to head ratio and look at other important factors. Genetic testing may also be offered to determine if there are any other defects that would affect your baby.

What side effects are common with CDH survivors?

There are many CDH children carrying out very normal lives, unbeknownst to the rest of us. The side effects can vary from child to child, and may diminish throughout the child’s life. Some common issues that can be present are: difficulty with eating, reflux (GERD), asthma, scoliosis, and developmental delays related to the life-saving procedures your child required to survive. Some require medications and oxygen after leaving the hospital.