Bladder Exstrophy is due to failure of the caudal aspect of the abdominal wall to form. These babies have defects involving the bladder, abdominal wall, perineum (the area between the anus and the scrotum or vulva), genitals and pelvis. In this condition, the bladder is exposed through the defect in the abdominal wall and is seen protruding from the body, which can affect muscular, neurological and urinary function if not treated.

In addition to malformations of the abdominal wall, babies with bladder exstrophy have abnormal muscle and pelvic hip bones. The genitals can also be deformed and the muscles surrounding the bladder and urethra fail to function properly. Without normal muscle and neurological function, future incontinence – the inability to control urination – is at risk without surgery.

What causes it?

This condition occurs in as few as 1 in 50,000 live births. However, a family history makes it more likely. Children born to a parent with bladder exstrophy have about a 1-in-70 chance of having it, and if parents have one child with this condition, they have a 1-in-100 chance of having another child with it.
Recent studies also suggest that children born as the result of fertility treatments are 7 times more likely to have bladder exstrophy than those conceived without fertility assistance. Males are five times more likely than females to be diagnosed with bladder exstrophy.

Diagnosis

In some cases, bladder exstrophy is detected from a routine prenatal ultrasound. In other cases, it isn’t diagnosed until birth, when physicians can clearly see the exposed bladder.

Prenatally, ultrasound and MRI together often assist in making this diagnosis.

At birth, the diagnosis of bladder exstrophy is made when:

• Part of the bladder extends out beneath the umbilical cord
• In male babies, the penis is short and wide with the tip of the penis split in the middle
• In females, the mons pubis (the rounded mass of fatty tissue lying over the pubic bones), clitoris and labia are separated, and the opening of the vagina or anus may be pushed more towards the abdomen

Treatment Options

The treatment for fetal bladder exstrophy is different with each child.

Babies born with this condition generally receive at least one bladder exstrophy surgery, but most children require multiple operations. The first priority is to close the bladder, the back of the urethra and the pelvic bones, while ensuring that the internal organs are enclosed within the abdomen. Surgeons also rebuild the external sex organs and fix the bladder so it can provide urinary continence.

The number of surgeries depends on the details of each case, but physicians often follow a phased approach to bladder exstrophy surgery. This means they start at birth by closing the bladder and pelvis and repair the urethra and genitals later in infancy. Then, when a child is ready for potty training and his or her bladder is large enough, physicians perform the bladder exstrophy surgery necessary for continence (usually around age 4).

Reconstructive surgery to correct the defects associated with bladder exstrophy have positive results, with most patients achieving functional use of their bladder, urethra, pelvic bones and genitals by potty-training-age. Even in more complex cases that require longer-term management, reconstructive surgery can allow patients to reach puberty with successful results.

*diagnostic information provided courtesy of our partners at Colorado Fetal Care Center

The Fetal Health Foundation is a parent-founded non profit helping families experiencing a fetal syndrome diagnosis.