Bladder Exstrophy and Epispadias

Bladder exstrophy (EK-stroh-fee) is a rare birth defect in which the bladder develops outside the fetus. The exposed bladder can’t store urine or function normally, resulting in urine leakage (incontinence). Problems caused by bladder exstrophy vary in severity. They can include defects in the bladder, genitals and pelvic bones, as well as defects in the intestines and reproductive organs. Bladder exstrophy may be spotted on a routine ultrasound during pregnancy. Sometimes, though, the defect isn’t visible until the baby is born. Babies born with bladder exstrophy will need surgery to correct the defects. Exstrophy literally means ‘turned inside out. Bladder exstrophy is a congenital abnormality (that is, present at birth) of the bladder. It is characterized by the improper formation of the skin over the lower abdominal wall. This opens and exposes the bladder on the outside of the abdomen. As for Epispadias, the urethra is improperly formed. While exstrophy can occur on its own, it usually occurs concurrently with epispadias in all boys. For boys, the urethra appears very short and splits, and consequently, it emerges at the top surface of the penis instead of its customary position at the end of the penis. The split might be small. But when it happens in boys born with bladder exstrophy, the split may include the full length of the penis, thereby making the penis short and broad. For girls, the opening of the urethra is advanced and wider than normal, the labia are at a distance than they should normally be, and the clitoris splits into two. Bladder exstrophy can be diagnosed either during pregnancy or at birth. During pregnancy: Bladder exstrophy can be diagnosed before birth during routine ultrasound or MRI. Signs from the images to be watched out for include:

• Incorrectly filling or emptying of the bladder.
• Lowly placed umbilical cord on the abdomen.
• Separated pubic bones.
• Smaller than normal genitals.

At birth: Signs to look for in a new-born include:

• The size of the portion of the bladder that is open and exposed.
• The testicles position.
• Bulging intestine through the abdominal wall.
• The anatomy of the area surrounding the navel.
• The position of the opening at the end of the rectum (that is, the anus).
• The distance between the pubic bones. 
• How easily the pelvis moves.

Bladder exstrophy treatment  Immediately after delivery of a baby with bladder exstrophy, the bladder is covered up with a clear plastic dressing for protection. After which a reconstructive surgery is carried out.  There are two main approaches to bladder exstrophy surgery. Complete repair: This kind of bladder exstrophy treatment is known as bladder exstrophy complete primary repair. Complete repair bladder exstrophy surgery is carried out as a single procedure which does not only close the bladder and the abdomen, but also repairs the urethra and the outer sex organs. This can either be done soon after birth or after two to three months. Staged repair: The full name of this bladder exstrophy surgery is bladder exstrophy modern staged repair. This bladder exstrophy repair involves three operations; the first is carried out within 72 hours after birth, the second at the age 6 to 12 months, and the third and last is performed at 4 to 5 years. The first procedure is aimed at closing the bladder and the abdomen, the second procedure repairs the urethra and sex organs, and the third procedure rebuilds the urinary tract, the bladder and tubes inclusive.

Symptoms

Bladder exstrophy is the most common in the larger group of birth defects called the bladder exstrophy-epispadias complex (BEEC). If your child has BEEC, he or she will have one of the following:

• Abdominal wall defect. 
• A flattened puborectal sling.
• Shortened pubic rami.
• External rotation of the pelvis.
• Wide pubic bones.
• Abnormally rotated legs and feet.
• Abnormal or weak abdominal muscles with an umbilical hernia where the umbilicus (belly button) sits above the bladder.

• Epispadias: This is the least severe form of BEEC, in which the tube to expel urine (urethra) doesn't fully develop.
• Bladder exstrophy: This defect causes the bladder to form on the outside of the body. The bladder is also turned inside out. Usually, bladder exstrophy will involve organs of the urinary tract, as well as the digestive and reproductive systems. Defects of the abdominal wall, bladder, genitals, pelvic bones, final section of the large intestine (rectum) and opening at the end of the rectum (anus) can occur.Children with bladder exstrophy also have vesicoureteral reflux. This condition causes urine to flow the wrong way from the bladder back up into the tubes that connect to the kidneys (ureters). Children with bladder exstrophy also have epispadias.
• Cloacal exstrophy: Cloacal exstrophy (kloe-A-kul EK-stroh-fee) is the most serious form of BEEC. In this condition, the rectum, bladder and genitals don't fully separate as the fetus develops. These organs may not be correctly formed, and the pelvic bones are affected as well.

The kidneys, backbone and spinal cord also may be affected. Most children with cloacal exstrophy have spinal abnormalities, including spina bifida. Children born with protruding abdominal organs probably also have cloacal exstrophy or bladder.

Causes

There is no certainty about the causes of bladder exstrophy. Researchers, however, think a combination of genetic and environmental factors possibly play a part.

The only thing that is scientifically known is that as the foetus develops, a structure known as cloaca (which is where reproductive, urinary and digestive openings all come together) doesn't properly develop in babies with bladder exstrophy.

• Doctors aren't sure what causes bladder exstrophy to develop. Researchers think that a combination of genetic and environmental factors likely plays a role.

• What is known is that as the fetus grows, a structure called the cloaca (klo-A-kuh) where reproductive, urinary and digestive openings all come together doesn't develop properly in babies who develop bladder exstrophy. Defects in the cloaca can vary a lot depending on the age of the fetus when the developmental error occurs.

FAQ

What does a bladder exstrophy surgery achieve?

The goals of the reconstruction surgery are to:

• Provide ample space for urine storage.
• Produce outer sex organs that look and function acceptably.
• Create bladder control (continence).
• Preserve the functions of the kidney.

What are the complications likely to arise form a bladder exstrophy?

Some complications that may arise from bladder exstrophy and epispadias include:

• Urine incontinence.
• Urinary reflux.
• Sexual dysfunction and infertility.
• Increased risk of infections. 
• High risk pregnancies.
• High risk of bladder cancer.

How common is bladder exstrophy?

It is a very rare condition. Bladder exstrophy occurs in just one in every 40,000 births, and affects two to three times more boys than girls.

What is the outlook for babies born with bladder exstrophy and Epispadias?

Children with bladder exstrophy and epispadias grow up to have normal life expectancy. They can also take part in normal activities without restrictions.

What are the risk factors of a bladder exstrophy and epispadias?

Factors that increase the risk of bladder exstrophy and epispadias include:

• Family history.
• Race: Whites are more prone to bladder exstrophy than other races.
• Sex: Boys are at an increased risk than girls.
• Use of assisted reproduction: Children birthed through assisted reproductive technology, IVF for instance, are at a higher risk of bladder exstrophy.