Bladder exstrophy

Diagnosis

Bladder exstrophy is found incidentally during a routine pregnancy ultrasound. It can be more definitively diagnosed before birth with ultrasound or MRI. Signs of bladder exstrophy seen during imaging tests include:

• Bladder that doesn't fill or empty correctly
• Umbilical cord that is placed low on the abdomen
• Pubic bones — part of the hipbones that form the pelvis — that are separated
• Smaller than normal genitals

Sometimes the condition can't be seen until after the baby is born. In a newborn, doctors 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 (inguinal hernia)
• Anatomy of the area around the navel
• Position of opening at the end of the rectum (anus)
• How much the pubic bones are separated, and how easily the pelvis moves

Mayo Clinic has a state-of-the-art fetal care center, which helps in the diagnosis and prenatal management of babies with urology abnormalities, including BEEC. Mayo Clinic's fetal care center has access to some of the most advanced fetal imaging, including high-resolution ultrasound and fetal MRI. Parents of babies with BEEC can meet the entire care team prior to birth.

Treatment

After delivery, the bladder is covered with a clear plastic dressing to protect it.

Children born with bladder exstrophy are treated with reconstructive surgery after birth. The overall goals of reconstruction are to:

• Provide enough space for urine storage
• Create outer sex organs (external genitalia) that look and function acceptably
• Establish bladder control (continence)
• Preserve kidney function

There are two main approaches to surgery, though it's not clear whether one approach is significantly better than the other. Research is ongoing to refine the surgeries and study their long-term outcomes. The two types of surgical repair include:

• Complete repair. This procedure is called complete primary repair of bladder exstrophy. Complete repair surgery is performed in a single procedure that closes the bladder and the abdomen and repairs the urethra and outer sex organs. This can be done soon after birth, or when the baby is around two to three months old.

  Most surgery for newborns will include repair to the pelvic bones. However, doctors 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 operations. One is done within 72 hours after birth, another at age 6 to 12 months, and the last at 4 to 5 years.

  The first procedure closes the bladder and the abdomen, and the second repairs the urethra and sex organs. Then, when the child is old enough to participate in toilet training, surgeons perform bladder neck reconstruction.

Surgical follow-up

Standard care after surgery includes:

• Immobilization. After surgery, infants need to stay in traction while they heal. The amount of time a child needs to be immobilized varies, but is typically around four to six weeks.
• Pain management. Doctors can place a thin tube into the spinal canal during surgery to deliver pain medications directly to the area it's needed. This allows for more consistent pain control and less use of opioid medications.

After surgery, most — but not all — children will be able to achieve continence. Children sometimes need to have a tube inserted into their bladders to drain urine (catheterization). Additional surgeries may be needed as your child grows.

Coping and support

Having a baby with a significant and rare birth defect such as bladder exstrophy can be extremely stressful. It's difficult for doctors to predict how successful surgery will be, so you're facing an unknown future for your child.

Depending on the surgery's outcome and the degree of continence after surgery, your child may experience emotional and social challenges. A social worker or other behavioral health professional can offer your child and your family support in facing these challenges.

Some doctors recommend that all children with BEEC receive early counseling and that they and their families continue to receive psychological support into adulthood.

You may also benefit from finding a support group of other parents who are dealing with the condition. Talking with others who've had similar experiences and understand what you're going through can be helpful.

It may also be helpful to keep in mind that children with bladder exstrophy have normal life expectancies, and a good chance of living full, productive lives with work, relationships and children of their own.

Preparing for your appointment

Your health care provider may have diagnosed your baby's condition during your pregnancy. If so, in addition to the health care provider you've selected to care for you during your pregnancy, you'll also likely consult with a multidisciplinary team of physicians, surgeons and other specialists.

Here's some information to help you get ready for your appointment, and what to expect from your health care providers if your unborn baby has been diagnosed with bladder exstrophy.

What you can do

• Be aware of any pre-appointment instructions. At the time you make the appointment, be sure to ask if there's any special preparation needed.
• Ask a family member or friend to come with you, if possible. Sometimes it can be difficult to remember all the information provided to you during an appointment. Someone who accompanies you may remember something that you missed or forgot.
• Write down questions to ask your doctor. Preparing questions ahead of time will help you make the most of your time with your health care providers.

For bladder exstrophy, some basic questions to ask include:

• What is the extent of the defect? Can you tell how severe it is?
• Can my baby be treated during pregnancy?
• What will be done for my baby immediately after birth?
• Will the treatment cure my child?
• How many and what types of surgeries will my child need?
• What are some of the potential complications of treatment or surgery?
• Will there be 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 in the future?
• What websites do you recommend visiting?

In addition to the questions that you've prepared to ask your doctor, don't hesitate to ask other questions during your appointment.

What to expect from your doctor

Your doctor is likely to ask you a number of questions, such as:

• Have you ever had a child with bladder exstrophy or other birth defects?
• Has anyone in your family been born with bladder exstrophy?
• If necessary, are you able to travel to a facility that offers specialized care?