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Congenital Diaphragmatic Hernia In Newborns: What You Should Know About This Birth Defect

The two important organs present in the chest cavity are the lungs and the heart. The other organs such as the stomach, liver and the intestines are present in the abdomen. The chest cavity and the abdomen area of our body are often separated by a thin wall known as the diaphragm. But what happens in cases where the diaphragm has a defect or is not present at all?

The condition where there is a hole in the diaphragm or it is completely absent in newborns is known as congenital diaphragmatic hernia. Read on to know more about this condition and how it affects the newborns.

What Is Congenital Diaphragmatic Hernia?

Congenital diaphragmatic hernia is a birth defect where the diaphragm is either partially developed or absent altogether. This causes the organs of the abdomen to occupy space in the chest cavity, thus displacing the heart and also not providing enough space for the lungs to develop.

The diaphragm is a very important part of the chest cavity. Without it, the organs of the abdomen move upwards and cause restricted space for the lungs to develop and grow. Due to the fact that the lungs are the last organ to develop in the foetus, the lack of space may severely affect their growth, which can be quite devastating for the growing baby.

What Causes Congenital Diaphragmatic Hernia?

There are a number of complex organ systems developing in a foetus at different stages of pregnancy. Around the 8th to 10th weeks of pregnancy, the stomach, intestines and other abdominal organs begin to develop. This is the same time when the diaphragm begins to form as well.

However, if there is a genetic abnormality, the diaphragm does not develop properly and so the abdominal organs start pushing into the chest cavity. This largely affects the development of the lungs as they are the last ones to form.

Due to the condition being relatively new, there are ongoing researches to understand the causes of congenital diaphragmatic hernia. However, there are a few studies which link it to the genes of the parents, combined with certain environmental factors.

There are also substantial pieces of evidence to show that congenital diaphragmatic hernia is linked with other birth defects such as congenital heart defect, the anomaly of the central nervous system or the gastrointestinal system. Around 40% of the babies suffering from congenital diaphragmatic hernia also have other defects.

How Common Is Congenital Diaphragmatic Hernia?

Congenital Diaphragmatic Hernia occurs in about 1 in every 2000-5000 births. Around 40% of the cases are due to genetic factors and 30 are due to a combination of environmental factors and the health of the mother. Often times, this condition is combined with another birth defect, such as congenital heart defect.

What Are The Symptoms Of Congenital Diaphragmatic Hernia?

Though the condition can be easily diagnosed at the time of gestation with an ultrasound scan, doctors usually look out for the below signs in a newborn baby which may indicate congenital diaphragmatic hernia. These symptoms are as follows:

-Difficulty in breathing

- Increased heart rate

- Discoloured skin/bluish skin due to lack of oxygen

-Abnormal bulging of the chest cavity

- Unusually concaved abdomen

These symptoms are a clear indication of congenital diaphragmatic hernia. However, it is important for the doctors to perform proper check-ups to correctly diagnose the condition.

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How Is Congenital Diaphragmatic Hernia Diagnosed?

After birth, if doctors suspect congenital diaphragmatic hernia in the newborn, they may recommend a number of tests and scans in order to reach a conclusion.

Congenital diaphragmatic hernia can easily be visible in the ultrasound around the 10th week of pregnancy. If there is an abnormality suspected, the doctors may recommend a targeted ultrasound in order to get a clear picture. Moreover, an amniocentesis can be recommended in the probe for any other genetic defect as the condition most often accompanies another genetic abnormality.

Because most of the cases of congenital diaphragmatic hernia are caused due to congenital heart defect, an echocardiogram can be used to properly diagnose the condition. Congenital diaphragmatic hernia often leads to the change in the position of the heart; therefore, the procedure may be repeated a number of times before getting a clearer result.

How Is Congenital Diaphragmatic Hernia Treated?

Congenital diaphragmatic hernia is mainly of two types, depending on the size of the hole. A small hole in the diaphragm does not cause too much of an issue but if the hole is big enough for the liver to pass through it, the condition is said to be serious. However, in either case, the condition is treatable by patching up the hole. But the problem does not end there.

After the hole is repaired, the success of the surgery completely depends on the rate of the development of the lungs. If the lungs are severely underdeveloped, the baby may be kept under ventilation and observation until the lungs develop fully and are able to function on their own.

Does Congenital Diaphragmatic Hernia Cause Problems In The Future?

Most of the cases of congenital diaphragmatic hernia do not have any problems after the initial struggle to survive.

Babies with congenital diaphragmatic hernia at birth may also suffer from gastro-oesophageal reflux due to the stomach and other abdominal organs developing in the chest cavity. Though this may give rise to problems such as heartburn, vomiting and other feedings problems, doctors can prescribe medications to combat the same.

Each child with congenital diaphragmatic hernia is not the same. Although most of the kids recover from the condition, it is important for the parents to monitor the progress and development of their child closely for quite a few years.

Read more about: baby diseases
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