Bladder Exstrophy

Babies born with bladder exstrophy have a problem where their bladder is outside their body. This condition affects how the bladder and other organs develop.

In girls with bladder exstrophy, the bladder is on the outside, and the vagina isn't fully formed. Doctors will surgically repair the bladder, and then close the opening in the abdomen and the skin around the area.

In boys, the bladder is also outside the body, and the penis and the tube that carries urine (urethra) are not completely formed. Surgeons will close the penis and bladder, then close the abdominal wall and the skin.

These surgeries are needed to bring the bladder and other organs inside the body, where they belong. Bladder exstrophy can cause issues with different parts of the body, not just the bladder. This might include problems with the genitals, pelvic bones, intestines, and reproductive organs. The severity of these problems can vary.

Doctors sometimes find bladder exstrophy during a routine ultrasound test while the baby is still in the mother's womb. However, it's sometimes not discovered until after the baby is born. Regardless of when it's found, surgery is needed to fix the problems associated with bladder exstrophy.

Bladder Exstrophy and Related Birth Defects

Bladder exstrophy-epispadias complex (BEEC) is a group of birth defects that affect the urinary system and often other parts of the body. It's one of the most common types of birth defects affecting the bladder. There are three main types within this complex:

• Epispadias: This is the mildest form. In epispadias, the tube that carries urine out of the body (the urethra) doesn't develop completely. This can cause the opening of the urethra to be higher up than normal on the penis or clitoris.

• Bladder Exstrophy: In bladder exstrophy, the bladder forms abnormally, growing on the outside of the body and being turned inside out. This often affects other organs connected to the urinary system, such as the kidneys and ureters. It frequently involves problems with the abdominal wall, genitals, pelvic bones, the rectum (the last part of the large intestine), and the anus. The urine can flow backward into the kidneys (vesicoureteral reflux), which can cause infections and kidney damage. Babies with bladder exstrophy also often have epispadias.

• Cloacal Exstrophy: This is the most serious type of BEEC. In cloacal exstrophy, the rectum, bladder, and genitals don't separate properly during fetal development. This can lead to incomplete development of these organs. The pelvic bones, kidneys, spine, and spinal cord may also be affected. Cloacal exstrophy often includes spina bifida, a condition where the spine doesn't close completely during development. Babies with noticeable protruding abdominal organs often have cloacal or bladder exstrophy.

Key features of these conditions:

• Vesicoureteral reflux (VUR): This is a common problem in bladder exstrophy, where urine flows backward from the bladder into the tubes connecting to the kidneys (ureters). This can cause infections and damage to the kidneys.
• Abdominal wall defects: In all three types of BEEC, problems with the abdominal wall are often present.
• Spinal abnormalities: Cloacal exstrophy is strongly linked to spinal abnormalities, including spina bifida, and can affect the kidneys, spine, and spinal cord as well.

Understanding these different types of BEEC is important for both diagnosis and treatment planning. Early identification and appropriate medical care are crucial for these conditions, as the effects can vary significantly.

Scientists don't know exactly why bladder exstrophy happens. They believe it's probably due to a mix of things, both in a person's genes and their environment.

During pregnancy, a part of the baby's body called the cloaca (pronounced klo-A-kuh) forms. The cloaca is where the openings for the reproductive system, the urinary system (bladder), and the digestive system all meet. In babies with bladder exstrophy, this cloaca doesn't develop correctly. The problems with the cloaca can differ depending on when the mistake occurs during the pregnancy, as the cloaca's development happens over time. The earlier the error, the greater the impact on development.

Bladder exstrophy is a birth defect where the bladder is not fully formed and is often visible outside the body. Several factors can increase a child's risk of having this condition.

Family History: If a parent or sibling has bladder exstrophy, a child has a higher chance of developing it. This suggests a possible genetic link. Even a firstborn child might be slightly more prone to the condition, although this is not as well understood.

Ethnicity/Race: Bladder exstrophy is more frequently observed in white children compared to other racial groups. Researchers are still studying the exact reasons for this difference.

Gender: More boys than girls are born with bladder exstrophy. The reasons for this difference aren't fully clear.

Assisted Reproduction: Children conceived through assisted reproductive techniques, like in vitro fertilization (IVF), might have a slightly higher risk of bladder exstrophy. More research is needed to understand if there's a direct connection.

Children born with bladder exstrophy have a condition where their bladder is outside their body. This often leads to problems holding urine (incontinence), making it difficult to control bathroom trips. They also face a higher chance of sexual problems later in life, and a slightly increased risk of bladder cancer.

Fortunately, surgery can help. The success of the surgery depends on how serious the bladder defect is. Many children who have the surgery are able to control their bladder function better. The condition can also cause the child's legs to turn outward slightly because of a separation in the pelvic bones, especially in younger children.

Despite the challenges, people with bladder exstrophy can still have normal sexual function, and even have children. However, getting pregnant is risky for both the mother and the baby. A planned C-section (cesarean delivery) is often recommended to minimize the risks during pregnancy.

A routine pregnancy ultrasound sometimes reveals a condition called bladder exstrophy. This is a birth defect where the bladder is partly or completely outside the baby's body. Doctors can often confirm the diagnosis before the baby is born using an ultrasound or MRI scan.

During these scans, signs of bladder exstrophy might include:

• Problems with bladder function: The bladder might not be filling or emptying normally.
• Umbilical cord position: The umbilical cord, which connects the baby to the placenta, may be lower on the baby's tummy than usual.
• Separated pubic bones: The bones in the baby's pelvic area, which help form the hips, might be more spread apart than usual.
• Small genitals: The baby's genitals may be smaller than expected.

Sometimes, bladder exstrophy isn't noticed until after the baby is born. In these cases, doctors will examine the newborn to look for:

• Exposed bladder: The amount of the bladder that's open and exposed to the air is checked.
• Testicle position: The location of the testicles is carefully assessed.
• Bulging intestines (inguinal hernia): Sometimes, a part of the intestines may bulge out through the abdominal wall near the groin.
• Navel area: The structure and features of the area around the belly button are examined.
• Rectal opening (anus): The position of the opening at the end of the rectum is evaluated.
• Pelvic separation: The degree of separation of the pubic bones and how easily the pelvis moves is also considered.

These findings help doctors determine the severity of the condition and plan the best course of treatment.