Bladder exstrophy is often diagnosed before birth using ultrasound or magnetic resonance imaging (MRI). Signs the doctor will look for in the images include:
- Bladder doesn't fill or empty correctly
- Umbilical cord is placed low on the abdomen
- Pubic bones — part of the hipbones that form the pelvis — 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 (bladder template)
- 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. The Fetal Care Center has access to some of the most advanced fetal imaging, including high-resolution ultrasound and fetal MRI. Management by the Fetal Care Center also ensures that parents of babies with BEEC meet the entire care team prior to birth.
Children born with bladder exstrophy are treated with reconstructive surgery following 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), and preserve kidney function.
Doctors will choose one of two basic approaches:
Complete primary repair of bladder exstrophy (CPRE). CPRE surgery is performed in one procedure, usually after the baby is three months old.(15) Surgeons close the bladder and the abdomen and repair the urethra and outer sex organs.
Most surgery for newborns will include repair to the pelvic bones (pelvic osteotomy). However, doctors may choose not to perform an osteotomy if the baby is less than 72 hours old, the pelvic separation (pubic diastasis) is small, and the infant's bones are flexible.
- Modern staged repair of bladder exstrophy (MSRBE). MSRBE involves three operations, usually within 72 hours after birth, at age 6 to 12 months and again at 4 to 5 years. The first closes the bladder and the abdomen, and the second repairs the urethra and sex organs. Then, when the child is old enough for toilet training and can participate in a "voiding program," surgeons will perform bladder neck reconstruction. Most, but not all, children will be able to achieve continence, but they sometimes may need to have a tube inserted into their bladder to drain urine (catheterization).
After surgery, doctors will need to keep your child immobilized and will manage his or her pain.
- Immobilization. Following surgery, infants will need to be held still in traction while healing. The amount of time a child needs to be immobilized varies. Infants undergoing initial surgery to close their bladder may be immobilized for three to six weeks. Children who are older or having a second bladder closure may need to be immobilized up to eight weeks, but may be able to recover at home.
- Pain management. New, regional anesthesia techniques allow doctors to place a thin tube (catheter) into the spinal canal (epidural space) during surgery and leave it in place for up to 30 days. This approach provides more consistent pain control and requires less use of opioid medications than previously.
Potential future treatments
Doctors continue to develop innovative approaches to surgery, including using new equipment such as robotic surgical devices and new materials such as 3-D printing to create models for surgical planning. Doctors also continue to evaluate the success of approaches in achieving continence. Achieving bladder continence can be a long-term process. Future studies are needed to better define what people with bladder exstrophy find to be an acceptable level of continence.
Coping and support
Having a baby diagnosed with a significant and rare birth defect such as bladder exstrophy can be extremely stressful. Learning that your newborn faces major reconstructive surgery, as well as potential additional surgeries and a chronic health condition, can understandably cause a range of emotions.
Doctors also may not know how successful surgery will be, so you're facing an unknown future for your child. Depending on the surgery's outcome and his or her degree of continence, your child may experience emotional and social challenges. Your child and your family may need the support of a social worker and other behavioral health professionals.
Researchers have studied the cosmetic appearance, body image and psychological well-being of children with bladder exstrophy. But given the complexity and variability of the condition, more investigation is needed. 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 have had similar experiences and understand the challenges can be helpful.
However, you can feel hopeful that your child has a good chance of living a full, productive life, with work, relationships, and children of his or her 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 anything you need to do in advance, such as drink extra water before an ultrasound.
- Make a list of all medications, vitamins and supplements that you took before and during your pregnancy.
- 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 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?
Jan. 23, 2018