What Is Bladder Exstrophy?

Bladder exstrophy (BE) is a rare birth defect in which the bladder develops outside of the body. BE is often identified during pregnancy by ultrasound and treated with surgery within a few days or months of the birth. Reconstructive surgery is used to replace the bladder back inside of the body and helps most children achieve normal bladder control.

BE is a rare defect, affecting around four in every 100,000 births, and is more common in people assigned male at birth than those assigned female. It often occurs in tandem with another birth defect known as epispadias in which the urethra (the tube through which urine exits the body) does not form normally. The combination is known as bladder exstrophy-epispadias complex (BEEC).

The article describes the symptoms and causes of bladder exstrophy and how the defect is diagnosed and treated. It also details the prognosis (expected outcome) following surgical repair.

Symptoms

The bladder is a balloon-shaped organ that stores urine. It is held in place by pelvic muscles in the lower part of the abdomen.

Bladder exstrophy is a congenital defect, meaning a defect that you are born with. With BE, the skin, muscles, and pelvic (hip) bones do not join as they should as the fetus develops. This allows some or all of the bladder to poke through the opening in the abdominal wall.

Instead of being round in shape, the bladder of a child with BE is smaller and flat. The pelvic muscles and bones will also not develop as they should, which can alter the position of the anus (the passage through which stool exits the body).

Bladder exstrophy can vary from one child to the next. In addition to having an external bladder, children with BE may have some or all of the following:

• Epispadias: This is when the urethra is short and opens at an abnormal position on the genitals. In male babies, the opening is frequently on the upper side of the penis. In female babies, the opening is usually between the clitoris and labia.
• Chordee: This condition causes the penis to bend or twist abnormally. It may not be problematic for babies but can affect sexual function later in life.
• Vesicoureteral reflux is when urine flows back from the bladder to the kidneys, increasing the risk of recurrent urinary tract infections (UTIs).
• Diastasis pubis: This is when the right and left sides of the pubic bone in the pelvis do not connect as they should. This can cause pain and discomfort in later life when walking or bearing weight and contribute to urinary incontinence (the inability to hold your urine).
• Umbilical hernia: This is when part of the intestine bulges through the opening in the abdominal muscles near the belly button. It usually doesn’t cause pain but can cause bulging, especially when coughing or straining on the toilet.
• Cloacal exstrophy: This is a more severe form of BE in which the intestine may be on the outside of the body, the anus may be sealed, and the vagina or penis may be split. There may also be a fatty growth, called a lipoma, on the spinal cord, which can affect walking and cause bowel and bladder problems.

Causes

BE is thought to develop early on in the pregnancy. The exact cause is unknown, but genetics is thought to play a central role. This is evidenced by the frequency of the defect in families with a history of BE.

Other risk factors of BE include:

• Being White
• Young maternal age
• Multiple births (having twins, triplets, etc.)
• In vitro fertilization (IVF)

With that said, you can have all of these risk factors and not have a child with BE.

Diagnosis

No lab tests or genetic tests can diagnose bladder exstrophy before birth.

BE is often found while performing a routine fetal ultrasound. The non-invasive test (which uses sound waves to create detailed images of the fetus) can detect abnormalities indicative of BE, including:

• The protrusion of the bladder outside of the abdominal wall
• An umbilical cord that is lower than normal
• Separated right and left pubic bones
• Genital abnormalities and/or genitals that are smaller than usual

The findings may be confirmed using magnetic resonance imaging (MRI). The imaging technique does not expose the fetus to radiation but instead creates highly detailed images using powerful radio and magnetic waves.

In some cases, the condition is only recognized after childbirth. At this stage, the diagnosis can be made by visual examination alone. No other tests are needed, but blood tests may be ordered in preparation for surgery.

Treatment

Surgery is the primary treatment for bladder exstrophy. Some children will require many surgeries over several years as they grow and develop. Most children will eventually have fully functioning bladders and normal-looking genitals with appropriate treatment.

There are several approaches a specialist known as a pediatric surgeon may take.

Modern Staged Repair of Exstrophy (MSRE)

Modern staged repair of exstrophy (MSRE) is a series of surgeries done in stages between the ages of three days and four to five years. The steps are broken down as follows:

• Three days after birth: Reconstructive surgery positions the bladder back inside the body.
• Age six to nine: Reconstructive surgery is used to repair epispadias or other genital malformations.
• Age four to five years: Reconstructive surgery to the bladder neck (from which urine exits the bladder to the urethra) is used to improve bladder control.

Complete Primary Repair of Exstrophy (CPRE)

Complete primary repair of exstrophy (CPRE) was created to reduce the number of surgeries a child with BE has to undergo. Ideally, the repair is done in one sitting. It is a complex surgery done when the child is a few months old and can take around 10 hours to complete.

After completing CPRE, the child will need to be immobilized with a pelvic cast.

Other Surgeries

In addition to MSRE or CPRE, other surgeries may be needed to repair other complications of bladder exstrophy. Some of the options include:

• Osteotomy: This is a surgery used to repair the separation of the right and left pubic bones. It involves cutting bones and sometimes adding bone tissue to reshape or realign bones.
• Clocystoplasty: Also known as bladder augmentation, this is a surgery often used in people with overactive bladder (OAB) that makes the bladder larger so that it can hold more urine.
• Ileocystoplasty: This is a surgery that makes the bladder larger by grafting a section of the person's small intestine.
  
• Gastrocystoplasty: This is a similar surgery that makes the bladder larger using a section of the stomach.

Prognosis

If not treated, children with BE will be unable to hold their urine and have an increased risk of long-term complications, including bladder cancer. Sexual dysfunction is also common.

Generally speaking, children who undergo surgical repair will live a healthy life. With that said, some studies suggest that urinary incontinence may develop in a significant number of people in later life.

There is no evidence that MSRE or CPRE is inherently "better" than the other. Even so, a single-stage approach tends to have more complications than a multi-stage approach, including an increased risk of UTIs and reduced kidney function.

Summary

Bladder exstrophy (BE) is a rare birth defect in which the bladder develops outside the body. In addition to bladder control problems, a child may have malformed pelvic bones and genitals. Genetics and family history are thought to play a central role in the development of BE.

There are no lab tests that can diagnose BE before childbirth. Many cases are detected while undergoing a routine fetal ultrasound, while others are only recognized at birth.

Surgery is the primary form of treatment, performed either in stages or all at once. Additional operations may be needed. With proper treatment, the long-term outlook is generally good.

A Word From Verywell

As distressing as bladder exstrophy may seem, it is highly treatable and most children will go on to live long, healthy lives. Even so, the approach to treatment can vary with some surgeons recommending a staged approach and others endorsing an all-at-once approach.

To make an informed choice as a parent, do not hesitate to seek a second opinion or engage the services of a patient advocate who can ensure you get all the information you need in plain English.