Johns Hopkins pediatric urologist Chad Crigger discusses the latest findings regarding classic bladder exstrophy research, which were presented during the American Pediatric Surgical Association and American Urological Association 2024 annual meetings. Classic bladder exstrophy is a rare urologic disorder that develops between the sixth and eighth week of gestation in which the bladder and urethra are exposed. There are established guidelines for ultrasound, but this condition is diagnosed prenatally 46% to 47% of the time. This research investigates whether it is possible to develop guidelines aimed at increasing prenatal screening for classic bladder exstrophy.
Hi, I'm Chad Kriger, a pediatric urologist here at Johns Hopkins. I want to take a second of your time today to discuss exciting research out of the division of pediatric urology entitled Optimizing Prenatal Diagnosis of abdominal wall defects, classic bladder atrophy and its imitators. Classic bladder atrophy is a rare urologic disorder that develops between the 6th and 8th week of gestation in which the bladder and the urethra are entirely exposed. Now, despite established guidelines for ultrasound, this is still only diagnosed prenatally 46 to 47% of the time to put this in perspective. Autosomal recessive polycystic kidney disease still has a diagnosis rate, incidence rate that is similar, the prenatal diagnosis rate is much higher. And so what we're looking at is can we establish guidelines that will increase the prenatal screening of classic bladder atrophy to do this? We looked at our own institutional database goes back to 1975 and encompasses over 1500 patients. What we did is we cross referenced our existing patient records from 2000 to 2022 with prenatal imaging when available. And what we were able to find is that 280 patients fit this criteria. Now, this is a summary table which we will break down into steps over the next several slides. But the big point here I want to make is that the sooner this diagnosis was made prenatally, the more likely that these patients were closed at ABC ABC Centers of excellence for the Association of Bladder Troy. And these are centers that designate high volume closures where success rates are much higher. When we look at individual data, we found that the prenatal diagnosis was much higher in those mothers who used in vitro fertilization. And the prenatal diagnosis screening is is much more intensive than these. So that makes sense. But when we look at the abnormal ultrasounds and those that were diagnosed post natally, 17% of them still had abnormal ultrasounds. And this still did not prompt a diagnosis of classic paratroop. So that is really pushing the need to establish these guidelines on ultrasound so that we can increase that diagnosis rate again. When we look at osteotomy. What that shows is that the soon these patients are plugged in with a center of high volume care. The need for osteotomy goes down and this is where we have to fracture the pelvis because the pelvis is no longer malleable beyond the first few days of life. And so if we diagnose it sooner, we're able to do these closures without osteotomy. When we look at prenatal imaging, historically, the absence of the bladder or abdominal wall defect was used for a classic bladder atrophy, but this is easy to be confused with other things such as gastroschisis or Phalle. And in our review, what we found is that low umbilical insertion or the umbilical cord inserts lower on the abdominal wall than usual or pubic diastasis where the separation is wider for the pelvis. These were actually much more sensitive at rates of 100%. And then when we look at prenatal referral patterns, we found that those that saw a specialist prenatally were much more likely to be diagnosed. And so maternal fetal medicine and pediatric neurology had a much higher prenatal diagnosis rate than if they did not see these specialists. Now, we were fortunate to present this data recently at two major conferences, the American Neurological Association and the American Pediatric Surgical Associates, both in May of this year. And this is a really big goal for us in our division is to share what we find and give to other children's centers. That way we can share our findings and hopefully increase the awareness of classic but troy elsewhere. Now, I'm fortunate here at Johns Hopkins to work closely with our maternal fetal medicine colleagues and we have a close collaboration with them that way we can find these families and these patients and get them plugged into our system much sooner. Thank you for your time.
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