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Bladder exstrophy, a rare congenital condition, involves the development of the bladder outside the fetus’s body. The bladder, a balloon–shaped organ in the lower abdomen, normally stores urine until it’s time for elimination. However, in bladder exstrophy, the bladder is exposed and unable to function properly, leading to urine leakage, known as incontinence. The severity of bladder exstrophy varies depending on the individual, which can result in potential defects in the bladder, genitals, pelvic bones, intestines, and reproductive organs.
While routine prenatal ultrasounds can detect bladder exstrophy, there are situations where the defect remains hidden until the baby’s delivery. In cases where infants are born with this condition, bladder exstrophy is treated with reconstructive surgery after birth.
Symptoms
Bladder exstrophy is one of several birth abnormalities known as the bladder exstrophy–epispadias complex (BEEC). Some infants are born with only one form of BEEC. Others suffer from several BEEC disorders. They may have one of the following:
- Epispadias: This is the mildest type of BEEC, where the tube that releases urine (urethra) doesn’t completely form.
- Bladder exstrophy: This defect leads to the bladder developing outside the body and being inverted. Typically, it involves the urinary tract, as well as the digestive and reproductive systems. This can result in issues with the abdominal wall, bladder, genitals, pelvic bones, the last part of the large intestine (rectum), and the end opening of the rectum (anus). Additionally, children with bladder exstrophy experience vesicoureteral reflux, causing urine to flow in the wrong direction—from the bladder back up into the tubes connecting to the kidneys (ureters). Epispadias is also commonly present in children with this condition.
- Cloacal exstrophy: Cloacal exstrophy represents the most severe type of BEEC. In this condition, during fetal development, the rectum, bladder, and genitals do not fully separate. These organs might not form correctly, and it can also impact the pelvic bones. The kidneys, backbone, and spinal cord might also be affected. Many children with cloacal exstrophy experience spinal abnormalities, often including spina bifida. Babies born with organs protruding from the abdomen probably have cloacal exstrophy or bladder exstrophy.
Causes
The precise cause of bladder exstrophy isn’t known, but experts believe it’s likely due to a combination of factors such as genetics and the environment. What we do understand is that as a baby grows before birth, a part called the “cloaca” where the body’s urine, feces, and reproductive parts all converge, doesn’t develop correctly for those with bladder exstrophy. The issues with the cloaca can vary depending on the age of the baby when developmental problems occur.
Risk factors
There are several factors that contributes to an individual’s risk of developing bladder exstrophy, such as:
- Family history: There is a higher risk of bladder exstrophy being present at birth in firstborn children, children whose parent has bladder exstrophy, or siblings of a child affected by the condition. Adults who have bladder exstrophy as children have a 1 in 70 chance of having a kid with the disorder.
- Race: Bladder exstrophy is more common in the Caucasian population than in other racial groups.
- Sex: Men are up to three times more likely than women to suffer from bladder exstrophy.
Diagnosis
Bladder exstrophy, a condition that can be incidentally detected during routine pregnancy ultrasounds, can be more definitively diagnosed prenatally through ultrasound or magnetic resonance imaging (MRI) scans. The diagnostic signs include issues with bladder filling and emptying, a low placement of the umbilical cord on the abdomen, separation of the pubic bones forming the pelvis, and underdeveloped genitalia.
At times, the condition might not be noticeable until after the baby’s birth. In newborns, medical professionals examine for the following:
- The size of the exposed portion of the bladder
- Testicle positioning
- Bulging of the intestine through the abdominal wall (inguinal hernia)
- The structure around the navel
- The location of the rectal opening (anus)
- The degree of separation between pubic bones and the ease of pelvic movement.
Treatment
After delivery, a clear plastic dressing is applied to protect the exposed bladder. Newborns with bladder exstrophy undergo reconstructive surgery post–birth, with the goal of achieving several objectives: ensuring adequate urine storage space, developing external genitalia that are both aesthetically pleasing and functional, attaining bladder control (continence), and preserving kidney function.
The two types of surgical repair include:
- Complete Repair: This is a one–time surgery that fixes everything at once. The doctor closes the bladder, abdomen, and fixes the urethra and outer genitalia. They can do this right after the baby is born or when the baby is a few months old. Sometimes they also fix the bones in the pelvis, but if the baby is very young and the bones are flexible, they might wait.
- Staged Repair: This method involves three surgeries at different times. The first is done in the first few days after birth to close the bladder and abdomen. The second happens when the baby is 6 to 12 months old and fixes the urethra and private parts. The last surgery, when the child is around 4 to 5 years old, helps with bladder control.
