Tuesday, 9 October 2012

Congenital Malformations

The birth of a baby is an occasion of joy for the parents and their families. For many parents of new-borns, the pleasure of holding their child in their arms and dreaming of their happy future is marred when it is discovered that the little baby has some form or the other of what are known as congenital malformations.

The purpose of this blog post is to provide some information on the various congenital malformations from the urological perspective with the purpose of providing the mental peace and confidence to parents who are worried about their baby’s healthy life ahead.

To begin at the very beginning, a congenital malformation is a physical defect that is inherent in the baby at the time of the birth; this defect may pertain to any part of the body or any organs of the body. In colloquial terms, we refer to this as a “birth defect”. The causes for a birth defect are not really very clear though some forms of these cases have been found to be genetic in nature.

Let us now look at the congenital malformations which may be present in the urinary system of a baby:

1. Pelvi-Ureteric Junction Obstruction (PUJ)

This condition typically describes the presence of an obstruction which prevents the proper drainage of the urine from the kidneys. Although this is a congenital abnormality, this condition may not show up at birth but may manifest itself in the later years.

2. Vesico Ureteric Reflux (VUR)

In a normal urinary system, the urine flows from the kidneys to the ureters and then into the bladder. The congenital malformation known as Vesico Ureteric Reflux (VUR) is said to occur, when it has been found that the urine in the body is flowing backwards from the bladder into the ureter and then towards the kidneys. This condition needs immediate intervention for correction as the bacteria and toxins present in the urine may cause permanent damage to the kidneys.

3. Megaureter

This is a birth defect when the ureters – the channel through which the urine flows from the kidneys into the bladder for expulsion are abnormally dilated.

4. Posterior Urethral Valves (PUV)

The urethra is the tube which carries the urine from the bladder to expel from the body. The urethra has these tissues present near the bladder which prevents the flow of urine from the bladder into the urethra and is known as Posterior Urethral Valves (PUV). This form birth-defect tends to occur amongst male children only.

5. Hypospadias

This is the most common form of congenital malformation occurring in boys. It is a condition in which the urethral opening does not form completely to the tip of the penis as is normal but is formed somewhere along the underside of the penis. This condition leads to discomfort in urinating for the child and may lead to complications in his later life.

6. Epispadias

In Epispadias, the urethra does not develop fully and ends abruptly prior to its normal location. This condition may occur in both girls as well as in boys.

7. Ectopia Vesicae (Bladder Exstrophy)

This is the most complex form of congenital malformation. The bladder here does not form inside the body but instead develops into a flat shaped structure and lies exposed outside the body. The urethra and the genital organs also do not form normally and completely and the pelvic bones are also found to be more spread out than normal. It may be very disturbing for parents of children to see this condition because it is not an appealing sight at all, but the cause for joy is that this is a very much correctible defect.

I would like to mention here, that all the birth anomalies that have been described here, need some form of surgical intervention or the other, and the extent of the intervention would vary with the severity of the condition. Therefore concerned parents should make sure that for correcting any of the congenital malformations, they should refer to a veteran doctor to take care of the child because the impact of these corrective measures would remain for the rest of the child’s life.