Bladder exstrophy

Bladder exstrophy (EK-stroh-fee) is a rare condition present at birth. During pregnancy, the bladder of an unborn baby, also called a fetus, forms outside of the stomach area. This area also is called the abdomen. The exposed bladder can’t store urine or work as it should. This causes the baby to leak urine after being born.

Bladder exstrophy also can affect the genitals, stomach muscles, pelvic bones, intestines and reproductive organs. The cause of the condition isn’t clear, but genes may play a role.

Bladder exstrophy may be spotted on a routine ultrasound during pregnancy. But sometimes, the condition can’t be seen until the baby is born. A baby born with bladder exstrophy needs surgery to close the bladder and repair other affected body parts as needed.

Bladder exstrophy can involve a spectrum of symptoms. The symptoms depend on which body parts are affected along with the bladder and stomach area, and how serious the effects are. Bladder exstrophy is the most common in a larger group of conditions present at birth called the bladder exstrophy-epispadias complex (BEEC). Children with BEEC have one of the following:

• Epispadias. This is the least serious form of BEEC. With an epispadias (ep-ih-SPAY-dee-us), the tube through which urine leaves the body doesn’t fully develop. This tube is called the urethra.

• Bladder exstrophy. This condition causes the bladder to form on the outside of the body. The bladder also is turned inside out. Usually, bladder exstrophy involves organs of the urinary tract, as well as the digestive and reproductive systems. Changes in the abdominal wall, bladder, genitals and pelvic bones can happen. So can changes in the end part of the large intestine called the rectum and the opening at the end of the rectum called the anus.

  Children with bladder exstrophy also have a condition that causes urine to flow the wrong way. This is called vesicoureteral reflux. Urine flows backward from the bladder into tubes called ureters that connect to the kidneys. Children with bladder exstrophy have epispadias as well.

• Cloacal exstrophy. Cloacal exstrophy (kloe-AY-kul EK-stroh-fee) is the most serious form of BEEC. In this condition, the bladder and intestine are exposed. The anus may not open and the intestine may be short. The penis or the vagina may be split. The pelvic bones are affected as well.

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

The cause of bladder exstrophy isn’t known. But researchers think that genetic factors likely play a role.

What’s known is that during pregnancy, a tissue called the cloaca (klo-AY-kuh) typically covers the wall of the unborn baby’s lower stomach. Later, it’s replaced by stomach muscles. But if the cloaca bursts before the stomach muscles form, bladder exstrophy may develop.

Factors that raise the risk of bladder exstrophy include:

• Family history. Firstborn children, children of a parent with bladder exstrophy or siblings of a child with bladder exstrophy have a higher chance of being born with the condition.
• Race. Bladder exstrophy is more common in white babies than in Black or Hispanic babies.
• Male sex. More boys than girls are born with bladder exstrophy.
• Use of assisted reproduction to become pregnant. Children born through fertility treatments known as assisted reproductive technologies have a higher risk of bladder exstrophy. These treatments include in vitro fertilization.

Bladder exstrophy can lead to other health conditions called complications.

Without surgery

Without treatment, children with bladder exstrophy won’t be able to hold urine. This is called urinary incontinence. These children also are at risk of having trouble with sexual function later in life. They have a higher risk of bladder cancer as well.

After surgery

Surgery can lower the chances of some complications. The success of surgery depends on how serious the condition is. Many children who have surgical repair are able to hold urine. Young children with bladder exstrophy may walk with their legs turned somewhat outward. This is due to the separation of their pelvic bones. Walking gets better with age.

Long-term complications

People born with bladder exstrophy can go on to have regular sexual function. That includes being able to have children. But pregnancy often is high risk for a pregnant person who’s had bladder exstrophy and for the unborn baby. A planned cesarean birth, also known as a C-section, may be needed.

Diagnosis involves the steps a healthcare professional takes to find bladder exstrophy. But the condition often is found by chance during a routine pregnancy ultrasound. Other imaging tests such as MRI can help confirm the finding. Signs of bladder exstrophy seen during imaging tests include:

• A bladder that doesn’t fill or empty correctly.
• An umbilical cord that is placed low on the stomach area.
• Pubic bones — part of the hipbones that form the pelvis — that are separated.
• Genitals that are smaller than is typical.

Sometimes the condition can’t be seen until after the baby is born. In a newborn, healthcare professionals look for:

• Size of the portion of the bladder that is open and exposed to air.
• Position of the testicles.
• Intestine bulging through the abdominal wall, also called an inguinal hernia.
• Anatomy of the area around the navel.
• Position of the anus.
• How much the pubic bones are separated, and how easily the pelvis moves.

The treatment for bladder exstrophy is surgery after birth. You may hear it called reconstructive surgery. The goals of surgery are to:

• Provide enough space for urine storage.
• Create outer sex organs that look and work acceptably.
• Establish bladder control, also called continence.
• Help the kidneys work as well as possible.

If healthcare professionals spot bladder exstrophy during pregnancy, plans often are made for surgery right after birth. If the condition is found after a baby is born, the baby receives care in a special hospital unit. The baby may need to be transferred to a center that has experience treating bladder exstrophy. In either situation, healthcare professionals cover the newborn’s bladder with a clear plastic dressing to protect it.

There are two main ways to do bladder exstrophy surgery. It’s not clear whether one way is much better than the other. Research is ongoing to refine the surgeries and study their long-term results. The two types of surgery are:

• Complete repair. This surgery is called complete primary repair of bladder exstrophy. A surgeon closes the bladder and the stomach area and repairs the urethra and outer sex organs. This single surgery can be done soon after birth. Or it can be done when the baby is around 2 to 3 months old.

  Most surgery for newborns includes repair to the pelvic bones. But surgeons may choose not to do this repair if the baby is less than 72 hours old, the pelvic separation is small and the infant’s bones are flexible.

• Staged repair. The full name of this approach is modern staged repair of bladder exstrophy. Staged repair involves three surgeries. Often, the first surgery is done within 72 hours after birth. The second is done at age 6 to 12 months. And the last is done at 4 to 5 years.

  The first surgery closes the bladder and the stomach area. The second surgery repairs the urethra and sex organs. Then, when the child is old enough to start toilet training, surgeons repair a group of muscles involved in bladder control. This muscle group is called the bladder neck.

Surgical follow-up

Standard care after surgery includes:

• Help staying still, also called immobilization. After surgery, infants need to wear devices that keep their lower legs still during healing. The amount of time a child needs to stay still varies. But usually it’s around 4 to 6 weeks.
• Pain management. Healthcare professionals can place a thin tube into the spinal canal during surgery to deliver pain medicine directly to the area where it’s needed. This gives babies consistent pain control and lessens the need for more-powerful pain relievers called opioids.

After surgery, many children gain some bladder control. If your child had complete primary repair surgery, your child likely will need bladder neck surgery to improve bladder control. Sometimes, children need to have a tube inserted into their bladders to drain urine. This is called catheterization. More surgeries may be needed to improve urination or repair the genitals as your child grows.

Having a baby with a rare, serious condition present at birth such as bladder exstrophy can be extremely stressful. It’s hard for healthcare professionals to predict how successful surgery will be. So you’re facing an unclear future for your child.

Depending on the surgery’s outcome and the degree of bladder control after surgery, your child may face social challenges. For instance, your child may have trouble with body image. Your child also may be at risk of mental health conditions such as anxiety and depression. A social worker or a mental healthcare professional such as a therapist can offer your child and your family support in facing these challenges.

Some healthcare professionals recommend that all children with BEEC receive early counseling. They also recommend that these children and their families keep getting mental health support into adulthood.

You also may benefit from finding a support group of parents who are dealing with this condition. It can help to talk with others who have had experiences like yours and understand what you’re going through.

It also may be helpful to keep in mind that children with bladder exstrophy have typical life expectancies. They also have a good chance of living full, productive lives with work, relationships and children of their own. If needed, fertility treatments such as assisted reproductive technology can help them achieve pregnancy.

The healthcare professional you chose to care for you during your pregnancy may have found your baby’s condition. If so, you’ll likely keep seeing this healthcare professional during your pregnancy. You’ll also likely meet with a team of doctors, surgeons and other specialists.

Here’s some information to help you get ready for your appointment, and what to expect from your healthcare team.

What you can do

• Be aware of any instructions before your appointment. At the time you make the appointment, ask if there’s anything specific that you need to do to get ready.
• Ask a family member or friend to go with you, if possible. Sometimes it can be hard to remember all the information that your healthcare team gives you. Someone who joins you may remember something that you missed or forgot.
• Write down questions to ask your healthcare team. This can help you make the most of your time with your healthcare professionals.

For bladder exstrophy, some basic questions to ask include:

• What is the extent of the condition? Can you tell how serious it is?
• What will be done for my baby right after birth?
• How many and what types of surgeries will my child need? What are some of the complications that can happen due to treatment or surgery?
• Will the condition cause any lasting effects?
• Are there any support groups that can help my child and me?
• What are the odds of this happening again in future pregnancies? Is there any way to keep this from happening again?
• Are there brochures or other printed material I can have? What websites do you recommend?

Feel free to ask other questions during your appointment.

What to expect from your doctor

Your healthcare professional is likely to ask you questions such as:

• Have you ever had a child with bladder exstrophy or other conditions present at birth?
• Has anyone in your family been born with bladder exstrophy?
• If needed, are you able to travel to a medical center that offers specialized care?