Our Health Topics

Bladder Exstrophy and Epispadias

  • Bladder exstrophy is a rare, complex birth defect involving the urinary, reproductive and intestinal tracts, as well as the musculoskeletal system. During a baby’s development in the womb, the abdominal wall and underlying organs sometimes do not fuse properly, and the infant is born with the bladder inside out and exposed on the outside of the body.

    In some cases, bladder exstrophy can result in weakened abdominal muscles and a shorter than average urethra and vagina or penis. It can cause a variety of complications and problems, including incontinence, catheterization, reflux, infertility and the need for repeated reconstructive surgery.

    The condition:

    • affects about one in every 40,000 babies
    • has no known cause
    • is more common in boys
    • varies in its severity
    • occurs early in fetal development
    • may be associated with urinary incontinence and back-up of urine from the bladder to the kidneys, called vesicoureteral reflux
    • is treated with surgery
    • requires lifelong follow-up care

    Bladder Exstrophy Program

    Boston Children's Hospital
    300 Longwood Avenue
    Boston MA 02115

    P: 617-355-7796
    F: 617-730-0474

  • What is bladder exstrophy?
    Bladder exstrophy is a complex combination of disorders that occur while a baby is still developing (in utero). If the abdominal wall and underlying structures don't properly join together, a baby can be born with the bladder and other structures exposed on the outer surface of the body.

    Bladder exstrophy usually involves several systems within the body, including the urinary tract, reproductive tract (external genitalia) and pelvic skeletal muscles and bones. In rare cases, intestinal tracts are involved.

    The most commonly associated defect is epispadias, a malformation in which the inner lining of the urethra is exposed and visible on the top surface of the penis (in boys) or between the labia (in girls).

    Other associated defects include:

    • displacement of the belly button, usually immediately above the defect and lower than normal on the abdominal wall
    • narrow vaginal opening, wide-spread labia and short urethra in girls
    • outwardly rotated legs and feet

    What causes exstrophy of the bladder?

    The cause of bladder exstrophy is not known. Some studies show a clustering of the condition in families, suggesting that there’s an inherited factor. However, the chance for parents to have another child with exstrophy of the bladder is less than 1 percent.

    How is it diagnosed?

    Because the bladder and other structures are exposed on the outer surface of the body, bladder exstrophy can be diagnosed immediately at birth. In some cases, however, the condition is discovered before the baby is born through images produced by a fetal ultrasound or other imaging techniques such as magnetic resonance imaging (MRI).

    How is it treated?

    There are several options for initial repair of bladder exstrophy, including complete primary repair of exstrophy (CPRE). With this technique, the bladder is closed and the epispadias is repaired (entire urethra is closed into a tube) at the same time. This “primary closure technique” is the preferred approach at Boston Children’s.

    Treatment for exstrophy of the bladder begins at birth. The most important goals in the care of a boy or girl with bladder exstrophy are to:

    • preserve normal kidney function
    • develop adequate bladder function and promote urinary continence
    • provide acceptable appearance and function of the external genitalia
    • ensure that your child has a typical and normal childhood

    What is the long-term outlook for bladder exstrophy patients?

    After initial treatment for bladder exstrophy, care is ongoing and can involve a range of surgical procedures and tests. In many cases, additional surgeries are required during childhood, adolescence and young adulthood. Moreover, bladder exstrophy patients may require emotional and psychological support to manage their conditions.

    For information on support services at Boston Children’s, visit the Bladder Exstrophy Program.

  • Bladder exstrophy may be diagnosed either immediately at birth based on typical physical findings, during a fetal ultrasound or other imaging techniques such as magnetic resonance imaging (MRI).

    In most cases, exstrophy of the bladder is associated with the following:

    • shortened penis with the inner lining of the urethra exposed (epispadias) and open along the top surface of the penis in boys or in the surface of the body between the abnormally divided clitoris in girls
    • abnormally separated (spread to the side) lower abdominal wall muscles
    • displacement of the umbilical cord usually immediately above the bladder
    • umbilical hernia may be present (section of intestine protrudes through a weakness in the abdominal muscles)absence of a normal appearing belly button
    • anterior displacement of the anus such that the anus opens on the skin closer to the scrotum in the boys or vagina in girls
    • widened and shortened pubic and other pelvic bones
    • outwardly rotated legs and feet in some boys and girls
  • Treatment for exstrophy of the bladder begins at birth, and care encompasses a range of surgical procedures and tests. Major goals of treatment are to:

    • preserve normal kidney function
    • develop adequate bladder function and promote urinary continence
    • provide acceptable appearance and function of the external genitalia
    • ensure that the child has a typical and normal childhood

    There are two main approaches to the repair of bladder exstrophy:

    1. Complete primary repair of exstrophy (CPRE), in which both the bladder is closed and the epispadias is repaired (entire urethra is closed into a tube) at the same time. Children who undergo CPRE will likely require additional surgery during later years to manage urinary incontinence and vesicoureteral reflux (VUR). This procedure is usually performed at approximately 6 to 8 weeks of life. Delaying CPRE beyond the first 2 to 3 days of life may have several advantages for the child and the family unit, including:

    • The delay presents an opportunity for normal bonding between the baby and parents before the initial reconstructive surgery and lengthy recovery period that follows.

    • The time between birth and initial repair allows for growth, development and additional maturation of some organs and systems prior to the complex surgery and makes the anesthesia and surgery safer.

    CRPE, also known as the “primary closure technique,” is the preferred approach at Boston Children’s.

    1. Modern staged repair of exstrophy (MSRE) involves three surgeries for reconstruction of the bladder:

    • The initial repair: The bladder and abdominal wall are closed, the belly button is reconstructed and an osteotomy is sometimes performed (the pelvic bones are reformed to aid in the repair). The initial repair is usually performed in the first 2 or 3 days of life.

    • The second stage: In boys, the proximal part of the urethra close to the bladder is closed along with the bladder. In girls, the urethra is usually closed along its entire length, extending all the way from the bladder to the surface of the skin between the labia as it normally should be. The second stage repair occurs around 6 to 12 months of age.

    • The third stage. This stage involves bladder neck reconstruction with bilateral ureteral reimplantation. This stage is performed when the bladder has grown sufficiently to hold an appropriate volume of urine. This procedure is usually performed between the ages of 6 to 10 years of age.

  • At Boston Children’s Hospital, our care is informed by our research. Our discoveries in the laboratory strengthen the care we provide at each child's bedside. 

    Tissue-engineering
    Researchers are looking into ways to use tissue-engineering techniques to treat children with bladder exstrophy.

    At Boston Children's, researchers participated in the successful rebuilding of the first complex organ, the bladder, from living tissue cultivated in the lab. They first took a few healthy cells from the patient’s bladder then grew new bladders to transplant into their young patients. Since the bladders were built from the patients’ own cells, there was no danger of an immune-system reaction.

    Some of our other research projects include:

    • early outcome of patients with bladder exstrophy following complete primary repair exstrophy (CPRE)
    • growth and development of the bladder following the repair
    • imaging of the pelvis in patients with bladder exstrophy using magnetic resonance imaging (MRI)
    • need for bladder neck reconstruction in kids that undergo CPRE
    • urodynamics (bladder function testing) and metabolic characteristics of patients with stomach-intestinal augments
    • measuring the quality of life in kids and parents dealing with bladder exstrophy

    Fetal intervention
    Our researchers are studying antenatal (before birth) intervention, such as covering the exstrophy tissue or repairing the exstrophy itself in utero (while the baby is still in the womb). Investigational efforts in an animal model have proven the capability of taking a biopsy of the fetal bladder tissue, expanding this tissue in the laboratory and having it available for postnatal return to the newborn if deemed necessary.

    Innovative surgical techniques
    Newer, more effective surgical techniques and approaches are being developed to treat children with bladder exstrophy, including robotic surgery. This allows specially trained surgeons to use a high-tech robot to perform a number of complex and delicate operations through very small surgical openings, which reduces a child’s pain, recovery time, hospital stay and scars

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A family's journey from Greece - Bladder Exstrophy

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