An Overview of Bladder Exstrophy

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Bladder exstrophy (BE) is a rare birth defect where the bladder of the fetus develops outside the body. BE is often identified by ultrasound during pregnancy and treated with surgery within a few months after the baby’s birth. Surgery helps many children achieve bladder control and corrects any additional deformities.

Bladder exstrophy is more common in males than it is in females. Research from the American Journal of Medical Genetics finds that the total prevalence of BE is 2.07 in every 100,000 births. 

BE causes the bladder and the urethra (the tube that ejects urine) to form outside of the body. The bladder may also be flat rather than round, and the exposed bladder and urethra are unable to store urine. Moreover, the skin, muscles, and hip joints at the lower part of the belly may not be joined correctly and there may be deformities in the genitals.  

Symptoms

Doctors often identify BE during a routine pregnancy ultrasound. In other cases, the defect is not seen until after a baby is born. The main symptom of BE is leaking urine from the open bladder. A child with BE will have bladder control problems and will struggle with controlling the muscles of the abdomen and digestive tract.

Other symptoms will vary from child to child, but may include:

  • The urethra not forming completely: In boys, the urethra may be open on top of the penis rather than the tip. In girls, the opening is positioned higher than it normally would be.
  • Wider than normal pubic bones: The pubic bones usually join to protect the bladder, urethra, and abdominal muscles. In children with BE, these bones are not joined, leaving the hips outward.
  • Abnormal genitalia development: Boys with BE may have a penis that is shorter and curved, while testicles are not where they usually are. Some boys with this condition may have hernias. Hernias are bulges seen in the groin that may cause pain and discomfort, especially with coughing and lifting. In girls, the clitoris and labia minora may be separated and the vagina and urethra may be shorter. The uterus, fallopian tubes, and ovaries are generally unaffected.
  • Belly button displacement or umbilical hernia: Umbilical hernias usually don’t cause pain, but they appear as a bulge near the belly button. They are generally present at birth and can be seen when the child is straining for a bowel movement or coughing.
  • Vesicoureteral reflux or VUR: VUR causes urine to travel back up the kidneys. This condition may develop after surgery to repair and close the bladder.

Causes

BE usually occurs early in a fetus’ development around 4–5 weeks after conception, but researchers don’t know exactly why this happens. 

It has been suggested genetics may play a role. Some researchers believe a child whose parent has BE would have an increased risk for developing the condition. Further, having a sibling with the condition increases risk, but the risk is relatively small. Unfortunately, theories on genetic and family history risk factors are mostly speculative and/or have limited research and evidence to back them up.

Research reported in the medical journal Pediatric Urology suggests maternal age, race (BE is more common in whites than in other races), and birth order (most cases of BE appear to be in firstborns) are risk factors for BE. However, that report did not provide any evidence of inherited mutations that could play a role in the development of the condition.

How Genetic Disorders Are Inherited

Diagnosis

A diagnosis of BE is often made before to the baby’s birth with an ultrasound or MRI. Signs of this condition that may be seen on ultrasound or MRI include:

  • A bladder that isn’t filling or emptying correctly or completely
  • An umbilical cord that is lower than normal on the abdomen of the fetus
  • Separated pubic bones. The pubic bones are part of the hipbones, which form the pelvis.
  • Smaller genitals than normal

In some cases, the condition is not diagnosed until the baby is born, and diagnosis is made by looking for specific characteristics, including an open bladder and physical abnormalities in the genitals, pelvis, and abdomen.

Treatment

Surgery is the main treatment for bladder exstrophy. Some children will need many surgeries, done over several years as they are growing and developing. Most children will eventually have full functioning bladders and normal looking genitals.

The first surgery for this condition occurs when the newborn is only a few days old. This initial surgery is a reconstructive one that positions the bladder back inside the body so that it functions correctly and appears normal. Additional surgeries may be performed when a child is older and has bladder control, which is usually around 4 or 5 years of age. This may include surgery to reconstruct genitals and repair pelvic bones, as needed. 

Prognosis

If not treated, children with BE will be unable to hold urine and have an increased risk for bladder cancer. Further, lack of treatment or delayed treatment could lead to sexual dysfunction. Surgical treatment will reduce the possibility of such complications.

A child who has had surgical repair of BE will require some lifelong care, including regular follow-ups and ultrasounds to ensure their kidneys and bladders are healthy and functioning. Emotional issues that arise may need to be addressed as well.

For the most part, however, successful treatment means children with BE can grow up with healthy bladder function. Moreover, adult sexual function should be normal and past BE issues will not affect the ability to have children. There is an increased risk for a mother who has had surgery to repair BE as her cervical tissue might be unstable, but monitoring during pregnancy and a planned C-section can reduce complications.

A Word From Verywell

Because the causes of bladder exstrophy are unknown, there is no way to prevent this condition. However, the long-term prognosis for children born with bladder exstrophy is good.

The majority of children surgically treated for BE will have normal and healthy bladder and sexual function. Moreover, most will have no lifestyle restrictions and the condition does not affect life expectancy.

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