What is bladder exstrophy?

Bladder exstrophy is a complex, rare disorder that occurs early on while a fetus is developing in the womb. As the bladder is developing the abdominal wall does not fully form, leaving the pubic bones separated and the bladder exposed to the outside skin surface through an opening in the lower abdominal wall. Because the bladder and urethra are not closed, the bladder cannot store urine. Urine produced by the kidneys drains into this open area.

Bladder exstrophy occurs in approximately 1 in every 50,000 live births and is slightly more common in males. The disorder may occur in varying degrees and may involve other organs including the bowel, external genitalia and pelvic bones.

Treatment for bladder exstrophy includes surgical repair. The goal of treatment is to optimize urinary control, to preserve normal renal function, and to optimize the appearance and function of the external genitalia. If left untreated, normal urine continence does not occur and normal sexual function is compromised.

At Children’s Hospital of Philadelphia (CHOP), your child will receive coordinated, specialized care from a multidisciplinary team with extensive experience treating children with bladder exstrophy.

Signs and symptoms of bladder exstrophy

The signs and symptoms of bladder exstrophy can vary from child to child, but may include:

• Abnormal development of the bladder: The bladder is open in the front and exposed on the abdominal wall (bladder is outside the body). The bladder neck has not developed properly and the bladder itself is usually small. These factors make it difficult for the bladder to hold urine initially after correction surgery until the bladder has time to grow and develop.
• Epispadias: The urethra, which is the hollow tube that drains urine from the bladder to the outside of the body, is not formed completely. In males, the urethra is open on the top of the penis and not the tip. In girls, the urethral opening may be positioned further up between the divided clitoris and labia minora.
• Widening of the pubic bones: The pubic bones usually join to protect and support the bladder, urethra and abdominal muscles. In children with exstrophy, the pubic bones do not join, leaving a wide opening. This causes the hips to be outwardly rotated.
• Vesicoureteral reflux (VUR): Normally the kidneys make urine and drain down the ureters (drainage tubes) into the bladder. VUR is a condition where urine travels back up into the kidneys. This may develop after the bladder is closed.
• Abnormal development of genitalia:
  • Boys: The penis may appear shorter and curved in an upward direction. The testicles may not be in a normal position in the scrotum and a hernia may be seen.
  • Girls: The clitoris and labia minora are separated and spread apart; the vagina and urethra are shorter. The uterus, fallopian tubes and ovaries are generally normal.
• Displacement of the umbilicus (belly button) and/or an umbilical hernia

Bladder exstrophy diagnosis and evaluation

Exstrophy of the bladder can usually be diagnosed by fetal ultrasound before an infant is born. Bladder exstrophy is suspected when ultrasound shows that the baby’s bladder is not filling and emptying normally.

Fetal imaging experts will look for several other indicators to confirm the diagnosis, including a low umbilical cord with an abdominal bulge below the cord insertion (representing the opened bladder halves, or bladder plate) and unclear male or female genitalia. Bladder exstrophy is not usually associated with other ultrasound findings or chromosomal or genetic syndromes. However, for gender identification, an amniocentesis may be recommended.

If bladder exstrophy is not prenatally diagnosed, the bladder defect is easily visible after birth.

Bladder exstrophy can be an overwhelming diagnosis for parents, but our team is here to support you from before birth through delivery and beyond.

Prenatal evaluation at CHOP

If doctors believe your unborn baby has bladder exstrophy, we will schedule you for a comprehensive prenatal evaluation at the Center for Fetal Diagnosis and Treatment. Before your baby is born, you’ll also meet with the exstrophy team in the Division of Urology.

During your prenatal evaluation, you will undergo a variety of diagnostic tests which may include:

• Targeted, high-resolution fetal ultrasound 
• Fetal echocardiogram (specialized ultrasound that evaluates the structure and function of the fetal heart)
• Ultrafast fetal MRI
• Consultation with an obstetric specialist and a pediatric urologist  

The team will meet with you to review all studies and make a plan tailored to your unique needs. We will provide extensive information about your baby’s condition and answer your questions about the diagnosis, prenatal care and delivery, what to expect before and after surgery, and plans for long-term follow-up care.

Prenatal care and delivery of babies with bladder exstrophy

A prenatal diagnosis of bladder exstrophy does not typically change prenatal care, routine delivery planning, timing or mode of delivery. Our experienced prenatal care team will provide you with guidance throughout your pregnancy and as you plan for delivery.

During your prenatal visit, delivery options will be discussed. Depending on a variety of factors, your baby may be delivered at a community hospital close to home, or we may recommend delivery at CHOP. The Garbose Family Special Delivery Unit (SDU) at CHOP is the world’s first birth facility designed exclusively for pregnancies complicated by birth defects.

Our multidisciplinary approach to caring for children with bladder exstrophy allows for a seamless transition from prenatal diagnosis to delivery and postnatal surgery, which will optimize the chances for the best possible surgical and social outcomes for your child.

Treatment for bladder exstrophy

The goals of bladder exstrophy treatment are to improve quality of life, continence and body image for children born with bladder exstrophy. Children who come to Children's Hospital of Philadelphia for bladder exstrophy repair will have access to the Multi-Institutional Bladder Exstrophy Consortium (MIBEC). Comprised of expert pediatric urologists from CHOP, Boston Children's Hospital and Children's Hospital of Wisconsin, the goal of this multicenter team is to provide expert surgical care of babies born with bladder exstrophy and epispadias.

Complete primary repair of bladder exstrophy

Bladder exstrophy can be repaired with reconstructive surgery. If your child is treated at Children’s Hospital of Philadelphia, their surgery will be done using an approach called the complete primary repair of exstrophy (CPRE).

CPRE allows us to achieve the goals of surgical correction all in one operation:

• Bladder closure (moving it inside the body)
• Epispadias repair with reconstruction of the genitalia
• Bladder neck reconstruction (reconstruction of the urinary sphincter muscles)
• Pelvic osteotomy (closing the pelvic bones)

Closing the bladder early allows the bladder to cycle (fill and empty urine) which helps with bladder growth and development. Surgery is typically performed within 6-12 weeks after delivery. This gives parents an opportunity to bond with their newborn and allow the baby to grow healthy and strong.

We prefer this approach because we believe that having the complete primary repair as soon as possible after birth allows for more normal bladder function to begin earlier, and gives your child the best chance for long-term continence that will last through adulthood.

Your child’s surgical team will include pediatric urologists from MIBEC's three-hospital team and an orthopedic surgeon who work together to do the bladder exstrophy repair, collaborating on surgical techniques to optimize your child's outcome. The exstrophy team at CHOP has performed the CPRE since 1996. Since that time, children who have undergone this repair have shown excellent results.

After surgery, your child will be admitted to the hospital for approximately three weeks to allow him to heal. During this time your child will be in a hip spica cast that is split in half to allow access to the surgical incisions, skin and groin. Most children will be in the cast for about four weeks.

Long-term outlook for children with bladder exstrophy

Our long-term goals for children with exstrophy are to optimize daytime and nighttime urinary control, to preserve normal kidney function, and to optimize the appearance and function of the external genitalia. Your child may need additional surgery as she grows older to improve continence or to complete the genital reconstruction.

Follow-up care for bladder exstrophy

After surgical repair of bladder exstrophy, your child will require lifelong follow-up care. After the initial surgery, our team will follow your family closely. Your child will be scheduled for regular follow-up visits and ultrasounds to ensure her bladder and kidneys continue to develop in a healthy and safe way.

In addition to the physical aspects of bladder exstrophy, there are emotional issues that arise for many children and their families throughout the course of the child’s development. For example, some children wonder how to explain their surgical scars to peers. Others struggle to manage issues related to their continence. Many parents experience very complicated feelings about having a child with a chronic medical condition. Our dedicated psychologist can help your family and child deal with these challenges, and will remain available to you and your child throughout your care at CHOP.

We expect children will have periods of time when things seem to be going well, and other times when the challenges of their medical condition seem to be a greater burden. We believe helping you manage these issues is as important as any surgical work we do. Our entire team is available to your family as you manage these complex conditions over time.

Our team has years of experience working together to ensure the best surgical and social outcomes for children with bladder exstrophy. We believe our expert team approach and high volume surgical experience will improve the future for families and children with bladder exstrophy and epispadias.