Children with the bladder exstrophy-epispadias complex (BEEC) have rare abdominal wall defects that occur from 1:30-50,000 to 1:200,000 live births. ¹ These are some of the most complex genitourinary congenital anomalies. They exist on a spectrum from most severe (cloacal exstrophy) to least severe (epispadias).

Bladder exstrophy (BE) is notable for an everted, open bladder plate and an epispadiac urethra. The entire pelvic anatomy is altered with externally and anteriorly rotated pelvic bones with a flatter and wider puborectal sling than normal and divergence of the levator ani muscles. The anus is usually anteriorly displaced. ² Cloacal exstrophy (CE), otherwise known as the omphalocele-exstrophy-imperforate anus-spinal anomaly (OEIS) complex, includes an omphalocele as well as the persistence of an exstrophic rudimentary hindgut and prolapsing of the ileum between 2 separate bladder plate halves. CE is also associated with spinal defects as well as frequent renal abnormalities.

Accurate prenatal diagnosis of these congenital anomalies has a significant impact on parents for counseling and setting expectations. Despite advances in prenatal imaging only 10% to 32% of babies with BE or CE have a prenatal diagnosis. ³ Providing an accurate prenatal diagnosis for expectant parents is crucial because the various diagnoses on this disease spectrum hold vastly different prognoses with respect to morbidity during an entire lifetime. Moreover, prenatal diagnosis helps to guide postnatal care and prevent urgent transfer of a baby and separation from the mother.

Fetal imaging includes an initial fetal ultrasound (fUS), with progression to fetal magnetic resonance imaging (fMRI) to further evaluate abnormal findings. However, the suspicion of the diagnosis has to be made based on an initial fUS. The diagnosis of classic BE with a small bladder, one that is not protruding on fUS, is predicated on identifying the absence of a urine filled bladder. It is much harder to see something that is not present than to identify something that is present and looks abnormal. If an abnormality is suspected, evaluation for a widened pubic diastasis or low lying umbilical cord may be helpful. Technologic improvements in fUS now offer high levels of detail and high diagnostic accuracy when performed by experienced technicians and radiologists. In a recent study we determined that the sensitivity of prenatal imaging in differentiating BE from CE was 69% for fUS and 83% for fMRI. ⁴ The primary prenatal imaging feature that led to a discrepancy in the differentiation of BE from CE in both fUS and fMRI was a protuberant anterior abdominal mass that was misinterpreted as an omphalocele, thereby misclassifying the fetus on the OEIS spectrum rather than as a classic BE. Re-review of the prenatal images by 2 radiologists experienced in fetal imaging correctly established the final diagnosis in all cases. The location of the insertion of the umbilical cord on the abdominal wall in relation to the abdominal wall defect distinguishes a protuberant bladder plate in BE from an omphalocele in CE. ⁵ In addition, because a large bladder plate may protrude due to increased abdominal pressure from movement or straining, a bulging abdominal wall lesion, even if it appears to have loops of bowel posterior to it, may be a bladder rather than an omphalocele (fig. 1)

Figure 1. T2 sagittal images of fetal MRI ( A and B) and fetal US ( C and D) in a patient with BE demonstrating insertion of umbilical (long arrows) cord superior to a defect (short arrows; A and C), protuberant bladder plate with bowel posterior to the plate (short arrows; B and D) and postnatal appearance of female with BE and large protruding bladder ( E). (Republished with permission from The Journal of Pediatric Urology. ⁴)

The care of children born with BEEC begins with the fetal diagnosis or during the initial care in the neonatal intensive care unit, but the management requires a lifetime of active surveillance and careful adjustments in treatment. The last 50 to 60 years have witnessed a continued evolution of the surgical approach, and no single technique has provided consistent results. The surgical objective for all approaches is to close the exposed bladder and urethral plate by placing them into an anatomically normal location, to reconstruct functional and cosmetically acceptable genitalia and to achieve dryness. The Holy Grail–to provide volitional voiding per urethra with continence and preservation of the upper tracts–has been elusive. As a result, until now dryness with clean intermittent catheterization (CIC) with or without a bladder neck closure has been a realistic outcome for many.

In 2012, 3 institutions who were each independently using the complete primary repair of exstrophy (CPRE) were anxious to harness the power of collaboration to enhance experience with this rare disease. The Multi-Institutional Bladder Exstrophy Consortium (MIBEC) surgeons (Joseph Borer and Richard Lee from Boston, Doug Canning, Aseem Shukla and Dana Weiss from Philadelphia and John Kryger, Travis Groth and Elizabeth Roth from Milwaukee) founded the MIBEC and recruited Dr. Michael Mitchell as coach. ⁶ The goal of this collaboration is to reduce variability not only in the surgical procedure but also in the preoperative and postoperative management to improve outcomes. In year 1 alone the experience of each surgeon increased threefold ⁷ and has continued to grow over time (fig. 2).

At first MIBEC focused on the safety of the CPRE. Safety in BE surgery includes a durable bladder closure without dehiscence, minimization of fistulae and most of all prevention of corporal ischemia, which can lead to glans and corpora loss, the most significant and unrepairable complication of the surgery. To prevent this complication MIBEC surgeons closely observe the perfusion of the glans during pelvic bone approximation and carefully adjust the degree of pelvic closure to prevent excessive pelvic pressures, which we believe may result in corporal and glanular ischemia. Once a hallmark of the repair, we no longer disassemble the glans to augment collateral distal perfusion following epispadias repair. In order to provide consistent and durable continence with voiding, we have refined the bladder neck and proximal urethral tailoring in hopes of achieving a gentle and yet funneled anatomic bladder neck to aid in the gradual development of voiding continence without obstruction. In many cases we externally rotate the corpora, which we believe helps reduce dorsal chordee.

Figure 2.

Each MIBEC surgery is recorded with high-definition cameras. This has allowed us to develop and store a video library of “game films” edited to focus on the key steps of each closure and subfilms that focus on a particular aspect such as bladder neck measurement and tapering, penile dissection or even the monsplasty. ⁸ Before each surgery we collectively review these movies as a “warm up” for the attending surgeons, fellows and residents who will participate. We focus on specific steps used in previous reconstructions that were successful or may need improvement.

Even after over 20 years of experience with exstrophy surgery, review of the game films suggest that today's closures are better than those recorded as recently as 5 years ago. In surgery–just as in sports or music–coaching, dedication, self-critique and game film review refine and improve technique. In a presentation at the AUA in May 2019 we reported outcomes of 28 patients who underwent CPRE (12 girls and 16 boys) with at least 3 years of followup. There were no complete dehiscences and no glans or corporal injuries. In all, 5 children developed fistulae, 5 had temporary urinary retention and 2 require ongoing CIC. Six of the 28 had dry intervals of greater than 2 hours, and an additional 5 already had intervals of 1 to 2 hours. Therefore, 9 of 28 (32%) are already on the way to voiding with continence. This preliminary number is already well ahead of the 20% observed in our preMIBEC series. ^9,10

We hope that after gentle anatomic modeling of the bladder neck and aggressive physical therapy the child who is wet at age 5 will achieve voiding with continence by age 10 or 15 as the bladder grows and pelvic muscles mature. With bladder growth we believe we are seeing the child develop the sensation of a full bladder and a desire to void. We work with parents to encourage them to be patient with the child in the hope that this hard won continence forged on an anatomic repair will be durable and the alternative–augmentation and intermittent catheterization–will not be required in this next generation of children born with this challenging defect.