An Overview of Persistent Cloaca

A birth defect when the rectum, vagina, and urinary tract are connected

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Persistent cloaca is a rare congenital defect that only occurs in females. The malformation occurs during fetal development when the rectum, vagina, and urinary tract fail to separate. As a result, a baby is born with all three grouped together, forming a single channel.

Symptoms

In some cases, persistent cloaca can be diagnosed before a baby is born (prenatally). Signs of abnormal development of the urinary tract, sexual organs, and rectum may be seen on a prenatal ultrasound, including a visible collection of fluid in the vagina (hydrocolpos).

Even if signs suggesting persistent cloaca are present, it can be difficult to make a definitive diagnosis in utero. The cause of the signs may at first be incorrectly attributed to another birth defect or congenital abnormality.

Persistent cloaca is most often diagnosed at birth when it becomes apparent that rather than having three distinct, normally developed urogenital openings, the vagina, rectum, and urinary system of the newborn all convene at a single opening. This opening is usually found where the urethra would be located.

Infants with persistent cloaca are often found to have other conditions as well, including an imperforate anus or underdeveloped/absent genitalia.

During a newborn exam, babies with persistent cloaca may be found to have:

  • Failure to pass urine or stool
  • Visibly malformed, missing, or indistinct external genitalia
  • An abdominal mass (usually indicates the presence of fluid in the vagina)
  • Complications such as meconium peritonitis, bladder or kidney cysts, or duplication of the Mullerian system

Newborns with persistent cloaca may also have one of several conditions that seem to be frequently associated with the defect, including:

  • Hernias
  • Spina bifida
  • Congenital heart disease
  • Atresia of the esophagus and duodenum
  • Spinal abnormalities, including "tethered spine"

Causes

While it is one of the most severe anorectal malformations, the cause of persistent cloaca is not known. Like other birth defects, persistent cloaca is likely due to many different factors.

Diagnosis

Diagnosis of persistent cloaca may be made prenatally if the condition is severe and causes signs that can be identified on a prenatal ultrasound, such as fluid collection in the vagina. However, in most cases, the condition is diagnosed at birth when it's physically apparent that the newborn's urogenital system did not form properly.

Persistent cloaca is rare, occurring in one in every 20,000 to 50,000 live births. The congenital defect only occurs in infants with female reproductive systems.

Once the defect is identified, the next step is to determine which systems are involved and the severity of the malformation. In most cases, surgical intervention will be needed. In order to mitigate risk and maximize the potential for normal urogenital and bowel function in the long term, babies with persistent cloaca need the expertise of specialized pediatric surgeons.

The needs of infants with persistent cloaca must be evaluated promptly after birth and on a case-by-case basis. The extent of the defect, as well as the surgical intervention that is needed and possible, will be different for each infant with the condition.

A thorough evaluation by a specialist, or even a team of specialists, will be necessary before a baby can have corrective surgery. A surgeon will examine an infant's internal and external anatomy to determine:

  • The severity of the malformation
  • Whether the cervix, vagina, and rectum are present
  • If there are any associated conditions such as an imperforate anus or anal fistula

Some parts of the exam can be done under sedation or anesthesia.

Tests

The tests an infant may need to aid in diagnosis and to help plan for surgery include:

  • Ultrasounds
  • MRI or X-ray
  • A 3D cloacagram
  • Cystoscopy, vaginoscopy, and endoscopy
  • Blood tests to see how well the kidneys are functioning

Treatment

The main goal of treatment for persistent cloaca is to prevent immediate and potentially serious complications caused by the malformation, such as sepsis, and to correct the defect so a child can grow up with as close to normal urinary, bowel, and sexual function as possible.

In many cases it will take several surgeries to correct the defect and address any other abnormalities or conditions a baby with persistent cloaca may have. In some cases, additional surgeries will be needed later in childhood.

The primary surgery used to fix a cloaca is called a posterior sagittal anorectal vaginal urethral plasty (PSARVUP). Before a baby can have the procedure, it's important that they are medically stabilized. This may mean they need procedures to help them pass stool (colostomy or stoma) or urine (catheterization). If the baby has a collection of fluid in the vagina this may need to be drained prior to surgery.

During a PSARVUP procedure, a surgeon assesses and corrects the deformed anatomy. This may include creating an opening for stool or urine to pass (anus or urethra) and performing any reconstruction of the bowel that is needed.

Depending on the severity of the condition and the success of the initial reconstruction, another surgery may be needed. This is usually the case if the baby required a colostomy or stoma prior to surgery. Once the bowel has been given time to heal, the colostomy can be closed and the infant should be able to have normal bowel movements.

Additional surgery or reconstruction may be needed later in childhood. Some children with persistent cloaca struggle with potty training even with reconstructive surgery and may need to be on a bowel management program. Children who have difficulty controlling urine may need to have catheterization from time to time to help empty their bladder and avoid incontinence.

Once a child who was born with persistent cloaca reaches puberty, they may need the expertise of a gynecologist to assess any concerns related to reproductive health, such as delayed or absent menstruation (amenorrhea). In adulthood, a healthy sex life and normal pregnancy are often achievable for people who were born with persistent cloaca, though they may need to deliver via Cesarean section rather than vaginal birth.

A Word From Verywell

While persistent cloaca can sometimes be diagnosed prenatally, it is most often discovered at birth and can be associated with other conditions, such as spinal deformities and congenital heart disease. Reconstruction is needed and multiple surgeries may be required during infancy and childhood. With timely diagnose and proper treatment, most people born with persistent cloaca go on to have close to normal bowel, bladder, and sexual function.

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