Bladder exstrophy: what it is, how it is treated and the outlook

The word exstrophy means "turned inside out". In bladder exstrophy, GOSH explains that the skin over the lower abdominal wall (the bottom part of the tummy) does not form properly during pregnancy. The bladder is therefore open and exposed on the outside of the abdomen instead of sitting protected inside the pelvis.

The condition sits alongside epispadias, in which the urethra (the tube that carries urine out of the body) does not form properly. GOSH says all boys with bladder exstrophy also have epispadias, but epispadias can also occur on its own.

It is rare, with about 1 in 40,000 births affected, and it needs specialist surgical care from the first days of life. Most families will be told about it either during pregnancy or immediately after birth, and the care team will take the lead in explaining the plan.

GOSH says that as well as the exposed bladder, babies may have related problems of the urinary system and the pelvic bones. These vary in severity and do not affect every baby. They are confirmed with ultrasound scans and X-rays and may be corrected during the series of operations.

In boys with epispadias, GOSH says the urethra may be very short and split so that it opens on the top surface of the penis; in bladder exstrophy the split can run the full length of the penis, making it short and broad. In girls, the opening of the urethra is higher and wider than usual, the labia are further apart than normal and the clitoris is split in two.

• Problems with the neck of the bladder and the sphincter (the ring of muscle that lets urine flow out)

• A bladder that holds less urine than usual

• Ureters (the tubes from the kidneys) that join the bladder in a different place from normal

• The middle part of the pelvic bones separated

• The anus further forward than usual and the belly button lower down than usual

• Hernias and undescended testes, which GOSH lists among the more common associated problems

GOSH says bladder exstrophy is sometimes diagnosed before birth with ultrasound scans, but it is often not picked up beforehand and is obvious once the baby is born. Epispadias in boys is usually identified at birth, while in girls the diagnosis is usually made later, when they develop bladder control problems or infections.

After birth, ultrasound scans and X-rays are used to confirm related problems of the urinary system and pelvic bones. The doctor also examines the child closely to see whether other problems are present.

GOSH says babies are admitted in the first few days after birth, by ambulance from where they were born. Until surgery, the abdomen is covered in cling film, which protects the bladder surface and lets staff watch the area closely.

Treatment is a series of operations over the first few years of life. The overall aim, GOSH explains, is to prevent kidney damage and correct the abnormalities so that the urinary system and genitals work properly and look as normal as possible. The surgeon explains the plan, which can vary from child to child, and visits before each operation to talk through worries and obtain consent.

GOSH says that after the first repair, urine drains through catheters and the child is given fluids and medicines through a drip until the bladder starts to recover. Pain relief is given regularly, at first through an epidural, which is usually removed three to five days after the operation. Ureteric stents, if used, are removed seven days after, on the ward, with pain relief beforehand. The child can go home once recovering and reviewed by the doctors.

There are risks with any surgery. GOSH lists a small risk of bleeding, infection and anaesthetic complications. After the first repair there is also a risk that the wound does not heal properly and opens, which can move the bladder out of position and mean another operation. This happens more often if the area to be repaired is large.

GOSH says there is a risk of kidney damage in children with bladder exstrophy because of the abnormal join between the ureters and the bladder, which lets urine flow backwards towards the kidneys. This is called vesicoureteric reflux (VUR), and it can sometimes lead to hydronephrosis, where the kidneys swell. If severe it can damage the kidney and eventually lead to kidney failure, so both conditions are monitored closely throughout treatment.

Re-positioning the ureters in the bladder (ureteric re-implantation) may be done during the Kelly procedure. The NHS describes hydronephrosis as swollen kidneys from a build-up of pee, and says symptoms such as pain in the lower back, side or tummy, cloudy pee, blood in the pee or a high temperature need to be checked as soon as possible.

GOSH says the outlook for babies born with bladder exstrophy is good. About 20 per cent of all children need some further treatment later in childhood if they have trouble staying dry. If the ring of muscle around the base of the bladder is too weak, or the bladder cannot hold enough urine, urine can dribble out all the time. Bladder augmentation can help, and these children then empty the bladder using a catheter, either through the urethra or through a specially made channel called a Mitrofanoff.

The external genitalia of someone born with bladder exstrophy or epispadias will always look different from others. GOSH says that in males the penis tends to be shorter and broader, which does not usually cause problems with sex lives. Men born with bladder exstrophy have fathered children, though they may need fertility treatment, as sperm production is often normal but ejaculating may be a problem. Women born with bladder exstrophy have also had children; pregnancy should be supervised by a specialist obstetrician and babies are usually delivered by caesarean section.

Children need regular check-ups to make sure everything is working properly. GOSH says psychology support is offered at life stages such as starting primary school, moving to secondary school and finishing school. At around 16, young people transfer to adult urology services; GOSH says it generally transfers them to the Adolescent Unit at University College London Hospital, where they stay under a urology surgeon with regular but often less frequent follow-up.

Adults born with bladder exstrophy may find more detail in our guide to bladder exstrophy in adults.

Families are looked after by a specialist team who will explain which signs to watch for, so follow their advice first. Based on the NHS description of hydronephrosis, a child with a high temperature, pain in the back, side or tummy, cloudy or bloody urine, or difficulty passing urine should be checked urgently: call NHS 111 or your specialist team, and call 999 if the child is very unwell, floppy or struggling to breathe.

GOSH also notes that a wound that opens after the first repair needs further surgery, so contact the surgical team promptly if the wound looks different.

Bladder exstrophy is rare and is treated by specialist children's surgical teams. On the NHS, a baby is usually transferred to the specialist team shortly after birth, and surgery and follow-up are provided there. Families can ask their care team about psychology support, fertility advice and genetic counselling.

If you are considering any private option, ask which team will manage emergencies and long-term follow-up, and how it will work with the specialist NHS team that knows your child.