CDH is the abbreviated name for Congenital Diaphragmatic Hernia. ‘Congenital’ means born with , ‘Diaphragmatic’ means of or affecting the diaphragm; which is a thin sheet of muscle that helps us to breath and keeps our chest and stomach contents separate. ‘Hernia’ is a general term used to describe a ‘bulge’ or ‘protrusion’ of an organ, for example the stomach, through the structure or muscle that usually contains it. CDH occurs in approximately 1 in 2500 births and accounts for around 8% of all major congenital abnormalities.
The diaphragm normally develops in your unborn baby by around the 7-10 week gestation period of your baby’s development and CDH occurs when the diaphragm fails to form correctly or fails to develop in your unborn baby, allowing the abdominal contents to herniate into the chest cavity, which in turn prevents the lungs from developing properly. Depending upon at what stage the abdominal contents (also referred to as ‘Viscera’) herniated, how much, and the size of the hole in the Diaphragm will determine how much your unborn baby’s lungs and other internal organs, such as the heart, have been affected.
In most cases and particularly in left-sided hernias, the condition is isolated, which means that there are no other associated anomalies. Rarely, CDH is part of a chromosomal syndrome such as Edward’s Syndrome (Trisomy 18), Patau’s syndrome (Trisomy 13), Down’s Syndrome (Trisomy 21) and Turner Syndrome (Monosomy X). However, a Karyotype test is usually offered to confirm that the hernia is isolated. Uncommonly, other syndromes such as Cornelia De Lange and Fryn’s syndrome have also been associated with CDH.
Other features of CDH can include variable degrees of Lung Hypoplasia (incomplete development of the lungs), Pulmonary Hypertension (increased pressure in the pulmonary arteries) and heart defects. These are often difficult to diagnose and confirm to what extent they are present until after your baby is born. Other malformations can occur and are principally the cardiovascular (heart, lungs etc) genitourinary (kidneys, bladder etc) and gastrointestinal systems (stomach, bowel etc).
The best possible outcome is if baby continues to improve following surgery and is transferred to your local special care baby unit and eventually you are able to take baby home.
Possible outcomes and ongoing problems can include Reflux, which can be distressing for baby and is usually treated with medication. In severe cases a procedure called a nissen fundoplication is carried out where the surgeon improves the natural barrier between the stomach and the oesophagus. This prevents the flow of acids from the stomach into the oesophagus, and strengthens the valve between the two, which stops acid from backing up into the oesophagus as easily. For more information on CDH and the charitable body that supports families affected. Read on…