Bladder exstrophy is a rare anatomical abnormality, diagnosed at birth. The bladder and nearby pelvic structures aren’t formed correctly – instead of being round, the bladder is flat, and the skin, muscle and pelvic bones that connect the abdomen together are not properly formed, exposing the bladder to the outside abdomen. The muscles and bones that are supposed to join these structures together and support them are also deficient.

Bladder exstrophy occurs in around 2.07 per 100,000 live births, and is somewhat more common in males than females. If one of your kids has this condition, the risk of the next one having it is one in 100. If you as the parent have exstrophy, the risk is one in 70 that your children will have it.

Assisted reproduction babies have a seven times greater risk than in children conceived naturally/without assistance.

Other associated birth defects in girls can include:

  • Weakened and misshapen muscles in the lower abdominal wall
  • Widened pubic bones
  • A displaced belly button
  • Short urethra
  • Wide-spread labia
  • Narrow vaginal opening
  • Legs and feet that are rotated outward

Theories

We currently don’t know why this happens, but there are some theories. It is clearly familial (runs in families).

During the 11th week of pregnancy, the embryo changes structurally, with ingrowths of tissue in the lower abdomen wall. This stimulates further growth of muscles and pelvic bones. The bladder and rectum at this stage are contained within cloacal membrane tissue. The rectum then separates from the bladder, and in these foetuses, the cloacal membrane can rupture, creating the exstrophied bladder.

The timing of this premature rupture matters – it determines if a child is born with an isolated epispadias, classic bladder exstrophy or cloacal exstrophy. Children born with classic bladder exstrophy tends to be an isolated abnormality, but about 13 per cent of these kids are born with spinal cord abnormalities.

There is nothing parents could have done differently during pregnancy to stop this.

Diagnosis

This condition will be obvious at birth, and it can be detected in routine sonograms.

Treatment

If a sonogram has detected this condition, a pediatrician or surgeon will be able to do an immediate assessment. If the diagnosis is made after birth, the baby will be transferred directly to a specialist care unit immediately. The bladder will be visible on the outside of the baby’s body. Assessments of the baby’s genitals and pelvis will be made to determine the extent of the condition.

Surgery

Surgery is the treatment for this condition, with several options available. Each case will be evaluated depending on the severity of the exstrophy. The point of surgery is to close the bladder, urethra and pelvis, and achieve as normal-looking pelvis and genitals as possible, while retaining function. Keeping the urinary system flowing properly is also of importance.

The operations are often staged, as the child grows and various milestones are reached. Urinary diversion may be required if the staged treatment doesn’t work or isn’t possible.

Read more about bladder exstrophy repair surgery

Staged reconstruction

  1. Closing the bladder and pelvis in the newborn
  2. Reconstruction of the epispadiac urethra at six months
  3. Bladder neck surgery for continence when the bladder reaches a certain level of capacity, and the child is ready (psychologically) to be dry – usually around four or five years old
  4. Sometimes further operations are needed to improve continence, and almost always to improve the appearance of the external genitalia

Outcomes

These surgeries should only be done by very experienced surgeons, as they can be technically quite complex. The outcomes of surgery are well-documented and when the bladder has sufficient capacity, continence is achievable in between 73 and 78 per cent of cases. The initial surgeries help determine this, but also the quality of the bladder in the first place. If the bladder is not in good condition at birth, other treatment options are used.

So far, it is deemed ‘exceptionally rare’ for patients to reach their late teens without being fully continent and having good-looking genitals. There is no limits on lifestyle, life expectancy, or further troubles as an adult, so long as it is dealt with properly as a child.

Children born with bladder exstrophy often have other problems, which could include epispadias, vesicoureteral reflux, pubic diastasis, small bladder capacity, or a missing bladder neck and sphincter. These will all be dealt with on a case-by-case basis.

 

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