Congenital diaphragmatic hernia
What is a congenital diaphragmatic hernia?
The chest cavity is normally separated from the abdomen by a large, dome-shaped muscle called the diaphragm. A congenital diaphragmatic hernia is a birth defect where there is an abnormal hole in the diaphragm.
This allows some of the abdominal organs, such as the stomach and intestines, to protrude (or herniate) into the chest. As a result, there is not enough space for the lungs to grow to their normal size (known as pulmonary hypoplasia).
What causes it?
It is not yet clear what causes the failure of the diaphragm to form completely. No single gene causing the defect has been identified.
How common is it?
Congenital diaphragmatic hernias occur at a rate of about one in every 2,500 births. The abnormality of the diaphragm may occur on its own, but sometimes there are also other abnormalities, such as a heart defect.
How is it diagnosed?
In about 50 per cent of cases, the diaphragmatic hernia is diagnosed on an ultrasound scan before the baby is born. In the other half of cases, the diagnosis is usually made within minutes to hours after the birth.
What is the treatment?
Because the lungs are under-developed, most babies will need to be placed on a machine (a ventilator) to help them breathe. Surgery is then carried out to repair the defect in the diaphragm; this is usually done between day one and day 3 of life.
What problems does it cause?
There is a range of outcomes depending on the severity of the condition. However, a congenital diaphragmatic hernia is life threatening, and unfortunately, even with the best care, some babies with this condition will not survive.
Among those who do survive, there may be long-term medical problems, such as chronic lung disease, feeding problems and poor growth.
Last Reviewed: 23 November 2005
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