Cloacal Exstrophy Repair

Cloacal exstrophy is congenital malformation marked by an abdominal wall defect with open and exposed hindgut and bladder. It is the most severe birth defect within the exstrophy-epispadias complex, and when spinal defects are also present, it is called the OEIS (omphalocele, exstrophy, imperforate anus, and spinal defect) complex. Cloacal exstrophy is rare, occurring in 1/200,000–400,000 births, but it can be diagnosed on prenatal ultrasound. The defect results in two exstrophied hemibladders separated by an exposed cecal plate, with the distal hindgut being foreshortened and blind-ending, resulting in an imperforate anus. There is diastasis of the pubic symphysis, and the genitalia are separated. In males, the phallus is usually split in half, flattened and shortened, with the inner surface of the urethra exposed. In females, the clitoris is split, the labia are widely separated, and there may be two vaginal openings. Cloacal exstrophy is also highly associated with other birth defects, especially spina bifida, which coexist in up to 75% of cases. Multidisciplinary care followed by surgical management should begin immediately following the baby’s delivery. Surgical goals in the neonatal period include closure of the meningocele and repair of the exstrophy and omphalocele, resulting in approximation of the bladder halves and repair of the hindgut defect with colostomy creation. Closure of the bladder, with positioning within the pelvis, can either occur at the initial operation or be staged to occur after a period of monitored growth, and is best performed with pelvic osteotomies to protect the closure from tension. Subsequent surgeries over several years will address genital reconstruction and colonic pull-through for fecal continence, if the patient is a candidate. Here, we present a patient diagnosed with OEIS complex by prenatal ultrasound, with a postnatal exam confirming the diagnosis and demonstrating a closed (covered) myelomeningocele. The cloacal exstrophy and omphalocele were repaired in one stage, with primary closure of the involved bowel and the bladder, facilitated by pelvic osteotomies.

Abdominal wall; abnormalities; omphalocele; bladder; urogenital; cloaca.

Cloacal exstrophy occurs in about 1/200,000–400,000 live births.¹ Cloacal exstrophy is the most severe variant of a spectrum of disorders known as the exstrophy-epispadias complex (EEC), and it results from abnormal development of the cloacal membrane and urogenital septum. In addition to cloacal exstrophy, the other two disorders of the EEC are bladder exstrophy and epispadias, listed in order of decreasing severity. Cloacal exstrophy can occur as part of the omphalocele, exstrophy, imperforate anus, and spinal defect (OEIS) complex, which is present in this case.²

Diagnosis of OEIS is often made on prenatal ultrasound, which allows appropriate prenatal counseling. The major ultrasound criteria are: nonvisualization of the bladder, a large midline infraumbilical anterior wall defect or cystic anterior wall structure (persistent cloacal membrane), omphalocele, and lumbosacral anomalies. Minor criteria that may also be present include: lower extremity defects (e.g. club feet), renal anomalies, ascites, widened pubic arches, a narrow thorax, hydrocephalus, and single umbilical artery.³ When prenatal ultrasound is nondiagnostic, fetal MRI may clarify the diagnosis of cloacal exstrophy and aid in prenatal planning.⁴

The exact cause of cloacal exstrophy is unknown, but the result is exposed hindgut and bladder, with a central intestinal exstrophic plate and two lateral bladder exstrophic plates, and varying extents of omphalocele. Repair is an urgent, but not emergent procedure, and is best managed with a team approach, including neonatology, pediatric surgery, pediatric urology and pediatric orthopedic surgery. In the case of OEIS complex, involvement of a pediatric neurosurgeon is also important for managing the associated myelomeningocele.

Cloacal exstrophy results from rupture of the cloacal membrane prior to complete separation of the urogenital and anorectal components of the cloaca by the descent of the urorectal septum. However, the specific error of embryologic development that results in cloacal exstrophy is not known. The presentation is variable and depends on the development stage in which the failure occurs. One theory postulates that the lateral mesodermal folds do not migrate medially within the cloacal membrane, preventing proper development of the cloacal membrane into the infraumbilical abdominal wall. This results in an ill-supported membrane that can rupture prematurely. If the rupture occurs before complete descent of the urorectal septum, then further separation of these structures is prevented and results in cloacal exstrophy.⁵ This migration failure most likely occurs within the first 8 weeks of gestation.

Immediately after birth, the lower torso is enclosed in a bowel bag or covered with moistened dressings and plastic wrap to prevent evaporative losses, as would be done for gastroschisis or omphalocele. A thorough physical exam is performed to identify all congenital anomalies, and a nasogastric tube is placed for intestinal decompression. If an umbilical cord clamp was placed, it should be replaced with ligatures, to prevent injury of the exposed cloacal mucosa. 

IV access is required for fluid resuscitation and administration of prophylactic antibiotics. Post-natal evaluations include standard serology (for electrolytes, renal function and complete blood count), X-rays of the chest, abdomen and spine, and ultrasound of the head, abdomen (particularly for renal assessment) and spine (if a spinal defect has not already been identified). Timing and order of the surgical repair is determined collaboratively among the involved neonatal and surgical specialists.

Due to advances in neonatal and surgical care, the treatment of cloacal exstrophy has progressed from simply saving the child’s life to optimizing his/her quality of life.⁶

The initial surgical goals are to address the spinal defect, to create safe bowel and bladder outlets to prevent infection, and to preserve tissue for subsequent reconstruction. Preservation of colonic length by creating a colostomy, rather than an ileostomy, is important initially for optimizing nutritional absorption. In the long-term, preservation of the colon allows for colonic growth and lengthening, which makes a colonic pull-through possible in appropriate patients.⁷ Management of the bladder reconstruction, whether with primary closure or staged repair, is guided by the principle of achieving a closed bladder that is properly positioned in the pelvis to allow for urinary storage and voiding.⁸

Standard treatment for cloacal exstrophy is an urgent surgical repair of the omphalocele within the first few days after birth. Early surgery prevents the inevitable onset of sepsis and nutritional deficits that would occur in an infant who went without surgical intervention. However, management of cloacal exstrophy may be delayed if the spinal defect requires immediate attention.

Surgical repair of the cloacal exstrophy involves excision of the exstrophy and omphalocele from the abdominal wall. The hemibladder segments are then carefully separated from the central cecal segment. The cecum is tubularized, with preservation of all bowel tissue, including whatever distal colonic length is present. The distal end of the colon is exteriorized as an end colostomy. The medial aspects of the isolated hemibladder plates are sutured together, then a decision is made to either close the bladder fully or leave it open as a bladder exstrophy, for later closure. As part of the bladder closure, whether primary or staged, pelvic osteotomies are performed by the pediatric orthopedic surgeon. The osteotomies allow sutured approximation of the pubic symphysis to minimize tension on the bladder repair, and they have been shown to improve the success of bladder closure.⁹ Following pelvic osteotomies, postoperative immobilization, as with a spica cast, is needed.

The two surgical options for managing cloacal exstrophy are the single-stage and multi-staged approaches. With a single-stage approach, the hindgut and urogenital repairs are performed at the initial surgery, with the bladder closed and positioned within the pelvis, the abdominal wall defect repaired and phallic halves approximated. In a multi-staged surgical repair, the first surgery is performed neonatally and consists of excising the omphalocele, separating the hindgut from the bladder plates, approximating the bladder halves, tubularizing the cecum and creating an end colostomy.¹⁰ The unified bladder plate is sewn circumferentially to the abdominal wall margins, creating a bladder exstrophy. Subsequent surgery for definitive bladder closure and abdominal wall reconstruction is then undertaken at 1–2 years of age.

Subsequently, staged genital reconstruction is planned based on the adequacy of the genital tissue, which can occur as early as 6 months of age.⁸ Anorectal reconstruction is considered if the patient can demonstrate a reasonable expectation for continence.⁷

Single stage repair can be successful in well-chosen cases.^1,11 However, Jayman et al. demonstrated the odds of having a successful closure are 3.7 times greater for the multi-staged approach compared with the one-staged approach.⁹

The patient is one of dichorionic, diamnionic twins. Cloacal exstrophy was identified during a prenatal ultrasound, with this infant demonstrating all four major criteria used for identifying cloacal exstrophy. The mother was admitted at 34 weeks PCA for close fetal monitoring due to minimal growth of the affected twin. His evaluations remained reassuring, and an elective C-section at 37 weeks was performed, due to vertex-breech presentation of the twins. He was electively intubated at birth, then taken to the NICU for evaluation and resuscitation.

The patient is a male neonate presenting with OEIS complex. The omphalocele component was small, with minimal extension above the level of the umbilicus. Attached to the inferior aspect of the omphalocele membrane are the exstrophic plates. The terminal ileum was prolapsed, giving the appearance of an “elephant trunk.” Genitalia consist of a split hemiscrotum and a rudimentary phallus covered by a urethral plate. The anus is imperforate, and the feet are clubbed bilaterally. A skin-covered lower back myelomeningocele is identified.

The newborn underwent single-stage repair of his cloacal exstrophy, including pelvic osteotomies. He was placed in a spica cast for 4 weeks to allow for appropriate healing. By 2.5 weeks postoperatively, he was extubated, tolerating full enteral feeds (both orally and by gavage) and having good colostomy output. An operatively placed suprapubic catheter controlled the majority of his urine output, but urine was also noted from his urethra. He was kept in-hospital for placement of a ventriculoperitoneal shunt prior and then for repair of his myelomingocele. He had good ostomy function, and there were no complications related to his bladder or abdominal wall reconstruction.

Prior to the 1980s, cloacal exstrophy and OEIS were fatal conditions, but with development of neonatal and surgical techniques to treat these children, current survival rates range from 83–100%.^11-13 With infant survival being the expected outcome, management of OEIS now emphasizes quality of life by focusing on long-term bowel and bladder management. An important decision to be made at the initial surgery is whether the bladder can be safely closed or if a staged approach to the bladder is needed. Single-stage closure has demonstrated success, with or without bladder augmentation, as reported in multiple retrospective reports.^1,7,11,14,15 This approach provides the benefit of potentially decreasing the overall number of surgeries the patient undergoes, but also carries the risk of the bladder dehiscence, a significant complication that can lead to sepsis and death. A multi-staged pathway has exhibited excellent success rates with respect to bladder repair by delaying bladder closure of the bladder until 15–18 months of age, which allows the infant to optimize their nutritional status, to grow more bladder tissue before reconstruction and to develop more robust pelvic bone for pubic symphysis approximation after osteotomies.¹⁰

The benefits of pelvic osteotomies have been well-described, and an early study reported a decrease in complication rates from 89% to 17% by their use.¹⁶ Subsequently, modifications in osteotomy and fixation techniques have been realized, which further improve the ability to reduce the pelvic diastasis and protect the bladder and abdominal wall closures.^10,17 For the best results, a pediatric orthopedic surgeon should be involved in planning and performing the pelvic osteotomies.¹⁸

Allowing proper healing after performance of osteotomies is important in treating patients with cloacal exstrophy, so postoperative pelvic fixation is necessary for success. Techniques for immobilization include spica cast or modified Buck’s traction. Even if an osteotomy is not performed with bladder closure, postoperative immobilization with modified Bryant’s traction for 4–6 weeks was most effective.¹⁹ 

A significant factor for gaining urinary continence is the success of the initial surgical formation of the bladder.²⁰ In 2018, Maruf et al. demonstrated that urinary continence could be gained in 71% of patients with cloacal exstrophy who underwent additional procedures to gain continence.²¹ The median number of additional procedures for urinary continence following the initial bladder closing procedure was 4 (range 1–4), and the median age of attainment was 11 years.²¹ A 1989 series by Mitchell et al. demonstrated that all 10 patients who underwent bladder reconstruction to gain continence were able to stay dry for periods of 3 or more hours through the use of a continent stoma and clean intermittent catheterization, and 50% were totally dry during both day and night.²² Clean intermittent catheterization was required of all patients in the study except one.²²

In addition to bladder continence, intestinal continence without a permanent colostomy can be achieved in select patients. Although it was once thought that all patients with cloacal exstrophy would require a permanent ostomy, studies have demonstrated that intestinal continence can be achieved.^7,11,23 While a colonic pull-through can be considered at the time of initial surgery, initial end colostomy allows for better assessment of which children will have the best chance for continence, either primarily or with a bowel management program.^7,23,24 

The recommendation regarding gender assignment for males born with cloacal exstrophy has changed over time. In a review of patients from 1974 to 1992, 12 of 13 genetic males treated for cloacal exstrophy were assigned the female gender, with their testes removed at the first surgery.¹¹ The authors of this review asserted that all males should be assigned female due to the insufficient phallic tissue for creating an adequate penis. In a 2011 study on gender assignment for newborns with 46XY cloacal exstrophy completed by fellows in the Urology Section of the American Academy of Pediatrics, 79% of fellows favored male gender assignment, with the most important factor in male assignment being androgen brain imprinting.²⁵ Of the fellows who selected female assignment as most appropriate, the factors cited as important in their decision making were the high likelihood of creating functional female genitalia and the uncertain results of male phalloplasty.²⁵ In a review of the history of gender reassignment in cloacal exstrophy, the authors cite findings that the testes are functionally normal in males with cloacal exstrophy, and therefore prenatal androgenization occurs.²⁶ As a result of this imprinting, children reassigned female as neonates may later realize a male sexual identity. It is therefore recommended that 46XY children not undergo any reassignment surgery as newborns, but rather allow them to participate in these decisions as they grow older. Further, all patients with cloacal exstrophy should participate in long-term psychological counseling to cope with issues such as dating, sexuality, marriage, and depression.²⁵

No special equipment was needed for this procedure.

Nothing to disclose.

The parents of the patient in this video article have provided informed consent for filming and are aware that the information and images will be published online.