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  • Why does CDH occur?

  • CDH occurs approximately in 1 of 2,500 births and can be usually detected before birth. The specific cause of CDH is unknown but is most likely multifactorial in origin. While certain drugs or environmental exposures have been questioned, no specific agent has ever been identified. Many parents are concerned that genetics are the root cause; however, fewer than 2 percent of CDH cases are believed to be familial. Most cases of congenital diaphragmatic hernia and pulmonary hypoplasia are sporadic and isolated events.

    Research into the cause and treatment of diaphragmatic hernia is being performed in a number of centers around the country and around the world, including at Hasbro Children's Hospital. Our laboratory is actively involved in trying to understand the mechanisms involved in normal and abnormal lung growth. All these efforts may ultimately help find a cure for this condition.

    The most common type of CDH is a hole in the back of the diaphragm, also called Bochdalek hernia. Approximately 85 percent of the time, the left side is affected. This type of hernia is the gravest type, and the left chest usually contains the stomach, intestines, part of the liver and the spleen. This causes severe pulmonary hypoplasia of the left lung and significant hypoplasia of the right lung as well.

    When it occurs on the right side of the diaphragm, a significant amount of the liver may end up in the right chest, causing right lung hypoplasia and affecting the function of the heart.

    A second type of diaphragmatic hernia is called the Morgagni hernia. This is an even less common defect that involves a hole in the front portion of the diaphragm, just behind the sternum. Sometimes the intestines or a piece of liver may move up through this defect in between the heart and the sternum, but this usually does not cause pulmonary hypoplasia.

     

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    The Fetal Treatment Program is a partnership of Hasbro Children's Hospital, Women & Infants' Hospital and The Warren Alpert Medical School of Brown University.