Gynecologic Concerns: Cloaca and Complex ARMs

Here with everyone, um, I was just including some of the gynecologic sort of concerns that would be more acute and then with time with pubertal development we had talked a little bit about hydrocopos already so we moved those slides to another section. I would recommend that gynecologic involvement would be a great idea from very early on if possible in your institution to even then igniting or turning them on. I think at the time of puberty is an important component. In patients with cloaca, we know that they are at higher risk for things that we refer to as menstrual obstruction. So this is a citation that you see from the past when Doctor uh Pena and his group looked at their patients with a cloacal anomaly, and what they had found that what about 41% of those patients ended up, um, developing a pelvic collection of menstrual blood, it required re-operation. Why have I been emphasizing all this to you? Because it's really important to make a very good assessment at either the time of the definitive surgery if an abdominal procedure is indicated, or perhaps the time of colostomy closure to assess the Mullerian structures, or potentially even if that wasn't an opportunity, let's say everything was accomplished posterior sagitally and perhaps the colostomy closure occurred at home and there wasn't a gynecologist to run in and sort of check the reproductive structures. Then there would be other opportunities. Let's say if the patient gets them alone or has another surgery, there are times to assess the reproductive structures, and this is actually an intraoperative image showing a way that that can be accomplished. This is a demonstration of us showing this um during an open procedure. So this is demonstrating the distal fallopian tube that is very gently, that's super gentle, like those finger and thumb right there are my finger and thumb. And are the most gentle finger and thumb you've ever seen holding gently onto a fallopian tube. And then just gently compressing as they're chuckling, but they know that that's the most gentle finger and thumb that there is right there, um, and that you see a pediatric feeding tube, we typically would use like a 3 or 3.5 feeding tube and we would take all of the additional holes off the end off, so there's only one hole at the end. And gently place that within the fallopian tube, compress, and then install, install integrade fashion saline through so that we do what I say to parents is a test menstruation to test the patency of the Mullerian system. This has helped not only for us during reconstruction and to reassure patients and families about safety at the time of menstruation. But in some cases has actually helped to demonstrate for us sort of an unidentified vagina or helped us to delineate the reproductive tract at the time of the definitive surgery. Someone's making popcorn while we are having the conversation, so I don't know if anyone who has their microphone on would mute it because, um, now it's so much better. Thank you so much, um, the, um, sorry, the recommended management from reproductive standpoint, um, from our center would be to first start by delineating the reproductive anatomy as much as possible. So as I showed you, that's a way to assess that at an open procedure. We'll show a couple of slides later that can even be done laparoscopically as well with a gentle insertion of a feeding tube into the fallopian tube and assessing the patency of the reproductive tract. And then to again assess later um after the time of puberty, we would say beginning about 6 to 9 months after the onset of puberty, um, data would suggest that girls will not start menstruation until about 1.5 to 3 years after the onset of breast development. So there's definitely a period of time that is sort of safe, and then we can reassess the estrogen effects on the Mullerian system. And that will allow us to show the stimulation of the uterus and both of the uteri, and then we can assess that stimulation and then follow that through even after the onset of menarche. We've mentioned several times that we'll unify the vaginas so you can have two uteri that are menstruating through a common pathway, so it's important to assess that both are draining adequately and completely. It's important to continue that assessment and if one would detect that one of the uteri or the uterus itself is not draining well, then that's when that strong relationship with your gynecology colleague can be very helpful because we can use medical management to suppress continued menstruation and then that will allow an assessment of really what will be the best approach to allow either that menstrual fluid to drain through that common pathway. Or if that structure is too underdeveloped to retain to plan for when is a time that that can be removed that is less inconvenient for patients and family as this sort of thing always seems to happen right in the middle of the academic school year when kids are not really amenable to having time off for surgery. Um, intraoperative examination under anesthesia can sometimes be helpful if you need to assess sort of how far away from the perineum that obstruction may occur because as I mentioned on this slide, there are several approaches to how it might be best to relieve menstrual obstruction. So, um, I'm jumping a bit out of order so my talk seems probably the most chaotic of all the talks that are included because we've separated out some of the sections to where it was relevant. So we jumped into the middle of when I talked about different ways to approach the vagina reaching the perineum. So when you manage a patient with cloaca, one of the important things is the length of the common channel, and with that, that indicates where and at what level the vaginas communicate with the common channel. And so if it is a challenge to get the native vaginas to reach the perineum, there really needs to be some alternatives about how to manage that situation. Whether that is a procedure that I will demonstrate here for you which is called vaginal switch, which is something that Doctor Pena was the innovator for in the past. And um that particular get the video for procedure can be demonstrated in this excellent video that we're queuing up for you, but it's a way to retain native vagina for vagina and perhaps eliminate the need for a neovaginal graft. Um, this has some great components to it, which we'll talk about. And then there are maybe some, um, areas that may not be as desirable. Doctor Penny, would you like to moderate this? See, we separate the rectum posterior sartally, then we find that the common channel is very long. The patient has a hydrocorpus, bilateral hydrocorpus, two hemivaginas, and therefore we have to go into the abdomen. And embark ourselves in the most difficult part of the procedure, which is the separation of the vagina from the urinary tract. And then we find sometimes that the patients have two hemi uterus but very widely separated. And, and they, and yet even when we have plenty of vaginal tissue they, it doesn't reach the perineum and that's why I came up with the idea of of uh resecting one of the hemi uterus. If you are going to do that, you have to be with a special emphasis in preserving the blood supply of the ovary that you see there. So we amputate one of the hemi uterus, preserving the blood supply of the ovary, remove the vaginal septum, and then tubularize both hemivaginas into a single one and bring down what used to be the dome of the one hemivagina all the way down to the perineum. We have a series of those cases and we found that about 30% of them, the distal part of the vagina did not have good blood supply and required a re-operation. So now we are more aggressive. If it looks dusky, the, the part that we are pulling down, we jump into a vaginal partial vaginal replacement. To avoid that problem. Thank you Dr. Pena. So this was the drawing that would have been the pre-video demonstration of the uh vaginal switch. And so I just demonstrate that Dr. Pena emphasized the retention of the ovary on the side where the uterus may have been compromised and the vagina was then switched down to reach the perineum. I must say that maneuver is only useful uh if you have a specific anatomic set up like this. So what is interesting and fascinating about the cloacas is that every patient has a different anatomic uh a different anatomy, and you have to be prepared to deal with each one of the anatomic variants to improvise a surgical maneuver for each type, and this is one of those maneuvers. And um I think it was an innovative way to solve a very challenging problem. Dr. Pena um described that the anatomy can be different. The hemi uteri can be very close to each other or can be very widely spaced, and this is really relevant when those uteri are very widely spaced apart and thus the vaginas are widely spaced as well, and that can allow then for the switching of the native vagina down. As Doctor Pena mentioned, there, um, our team reviewed these patients some time ago, and I think what, um, is described on this slide is that these were patients which were fairly complex, right? The length of the common channel, the mean common channel length was 5.2 centimeters, so we're not talking about in patients who have a very straightforward approach, those patients who may be more challenging. In our patients it was performed in 60 patients, total 58 of them being Cloacas and demonstrating that even in a tertiary care center when we had at that time 568 Cloaca patients, this procedure was only relevant and applied in only 10% of the patients that were cared for. So as Dr. Pena has suggested, a select population. 51 of the patients had this associated with their initial surgery, and of those patients, 27 patients, or about 45%, acquired some degree of vaginal stenosis. If you look and you see in the listing of the patients, you can see that 11 of the patients required then vaginal replacement and 6 then required enteroidoplasty. I just point that in this population as well, there are about 4 patients who required incidental oophorectomy as there was a significant attempt to retain the blood supply to the ovary, but however, in some cases it was unable to be accomplished. So I think that the vaginal switch is obviously a procedure that um we do have some concerns about as a team about the need for subsequent surgery and repeat surgeries and I think that some of the concerns from the gynecology side of things would be about the need for incidental oophorrectomy and obviously wanting to preserve reproductive capacity for the future and of course the need to potentially remove one hemi uterus on the side of the rotated vagina. So I think you know if we're doing our best to preserve fertility, then we would probably want to think about other mechanisms and Doctor Pena mentioned that this is really useful in a unique situation. I would say it is always important to retain native vagina as much as possible. It's always superior to the use of a graft than to use, um, to use native vagina is superior to graft tissue, but there may be some very unique anatomic situations, and I say that there are some when there's a very well developed vagina on one side. And on the opposite side it's a rudimentary structure. Thus you will not be compromising fertility because the structure is very rudimentary on that side. So I think that there are some unique situations, but it has led us as a team to consider a little bit more strongly maybe some of the vaginal replacement at the time of the initial procedure. So I thought it would be useful to include some of the data. It was a number of years ago that our team undertook a review of the neovaginal replacements within our population. At that time we had about 134 neovaginal replacements, and you can see the stratification of the different tissue that was utilized. Doctor Pena mentioned earlier that we have used a number of different segments of the bowel. The rectum at that time was the most significant number. However, I think over time, as you heard the panel discuss earlier, we have moved away from using rectum in certain circumstances, and that is as we suggested, preserving bowel control potentially for patients by using another segment of the colon. As the gynecologist on the team, some of the emphasis has been is how much would patients need other procedures and what might be complications or concerns that might be associated with using a neovaginal replacement, and the literature is not as strong in this area. The long term follow up for patients is not as strong as we would like it to be, so as we reviewed our own patient population. In those patients who had small bowel, rectum, sigmoid, and the remainder of the colon patients, there was about anywhere from an 8 to 18% association of enteroidal stenosis. That was demonstrated on a retrospective review. So I think we often tell patients and families that they need a reassessment at the time of puberty, that the size of the introitus that we create as a baby is likely not going to be adequate for sexual intimacy for the future. So it's often a sort of semantics about what you call an inadequate introitus as a young woman. Enteroidal stenosis, or would you say that that's what was thought to be needed as a secondary procedure after the replacement? Neovaginal prolapse ranged from as small as 8% to as high as 20% of patients and then I think really um a very interesting thing that we found with this review was that really it was only patients with a rectal neovagina that complained of mucus secretion. I think that's something that is within the literature which doesn't have a strong body of evidence to support the um descriptions of mucus secretion. We have seen a number of patients who have had a colonic neovagina, and there have not seemed to be significant concerns with mucus secretion. So there may be some inherent disadvantages about neovagina, and I think that I've included those on this slide about what is the potential growth of a neovagina. We have seen that to grow substantially, especially when anastomos to a native vagina. Neovaginal prolapse I mentioned briefly as well. Diversion or ulcerative colitis that have developed in the colonic segment of the neovagina. There's again a small amount of data about that in populations, primarily case reports, and we have in our team experienced only anecdotal reports of subsequent colitis. And then I include about the potential for mucus production, as I mentioned, and malignancy potential. I just included some data about neovaginal malignancy risks because I think this is something that people talk about and there is very little data about. So at the time of this potential review that I've included, there were 23 reported cases of neovaginal malignancies. Of those, the majority of those are squamous cell carcinomas, and you can see that most of those are in patients who have experienced a neovaginal replacement for vaginal agenesis and not in an aggressive, more complex neovaginal replacement. The patients who had adenocarcinoma were only 6 of the 23 cases, and of those, there were only 4 of the 6 that the segment of colon was actually segment of bowel was actually identified. 2 were sigmoid, 1 was colon, and 1 was ileum. Interestingly enough, the time frame to develop any malignancy is a significant period of time. The meantime to development of malignancy was 19.2 years. And then the meantime in the patients who had a bowel segment was 24 years. So if a patient gets a neovaginal replacement, I think there's some um challenges about what should be the recommended follow up for that patient, what should be their surveillance exams or vaginoscopy. Obviously neovaginal replacement would occur at the time of the definitive surgery. Thus the patient will be very small. So if we wait even 10 to 15 years, they may be too young for what we would consider a routine standard pelvic exam. So Leslie, there's a question in the poll. What do you think about vaginal replacement with oral mucosa? Oh, that's such a great question from the pan from the poll. Um, we have begun to use, uh, buccal mucosa in some circumstances. We have primarily used that for what we call, um, augmentation vaginoplasty. So in patients who may have had some previous procedure and then later at the time of puberty have needed an augmentation procedure. That has at this time required um the use of a stent for many days after surgery and we have not really done this in prepubertal patients as yet so I think it's a great option for patients, but we're learning more and more and more about its use because it's just mucosa so you so it's not right, doesn't have a foundation to it exactly. So that's where in those patients where it's an augmentation. So a great example would be a patient who may have had um a bowel graft and then perhaps at the place where the native vagina and the bowel graft there is some stricture, then you could make an incision there and you could lay in the buccal mucosa graft. Having said that, there is a body of literature about using buccal mucosa as an inlay graft in vaginal agenesis patients. Again, you just make an incision, you create the space, and you then inlay the buccal mucosa. But again, there's a structured area when you have a wide open space and there is nothing to bridge between. Um, the vagina and the skin buccal mucosa may not be an option for you in that circumstance. I think where we've used it is more where there's strictured trooplast introituses where we need to enlarge rous, and we usually do it when they're older because they actually have to wear. The mold for a week we call the mold the rocket ship. They have to wear the rocket ship um in the vagina for about a week um for the graft to take and so they're pretty much at bed rest for that week and so it's um something that may not be appropriate at the time of initial reconstruction for the reasons you mentioned and then the postoperative care but then also I mean some of those patients will need dilations afterwards and. Um, you, you know, it depends on your philosophy and when appropriate vaginal dilations are OK or not and what will a child tolerate, um, but we usually reserve that portion if they're gonna need their touch up or, um, after we examine them once they've reached puberty, once, you know, um, that they are able to mentally as well as physically tolerate that. And they are motivated enough that that as well, um, so I think that's a great point. Um, our goals for adolescents and young adulthood include an adequate enteritis. I think that our team, um, here at Cincinnati Children's does not include vaginal dilation at the time of neovaginal reconstruction. So even if we were to do a bowel replacement, we would not include any means of dilation initially postoperatively. We would make an assessment later. So, um, our recommended management is for patients to be assessed after puberty. This allows us to assess for an adequate enteritis, an adequate perineal body, and then we can make some recommendations about the patient's ability to engage in sexual intimacy, as well as the possibility about becoming pregnant. The examination should be performed after the onset of puberty and menstruation, but definitely before they have their sexual debut. Um, that's where you need really again to engage your lovely gynecologist on your team to be able to have a really extensive conversation with a young adolescent, actually a young woman, about, um, her intimacy, her, um, exposures and her relationships because we certainly don't want patients to undergo anything that's a traumatic experience and could, um, traumatize an excellent repair that we know the pediatric surgeons on the panel have created. Um, it's true that when an enterroidoplasty is performed, if needed, we would recommend at that time to include dilation. So that's why part of the assessment is performed after puberty. In addition, all of the perineal structures that are native vagina or native tissue from the perineum will respond to estrogen stimulation. Will be more pliable, will be, um, often healed better, and so that's the best time we feel to entertain performing that enteroidoplasty. But let, but just to clarify, after the repair, so usually 6 to 8 weeks when we do our colostomy closure, we will make an assessment if they had a vaginal replacement or um vaginal reconstruction at that time. to note the adequacy of the vagina or the vaginal replacement as well as the um size of the inroitis exactly so um we have begun um and I'll allude to it in a few minutes some long term studies about the outcomes for patients. The problem is it takes 15 to 20 years to learn that information so we have started to um create some data and collect some data. At the time of colostomy closure or the time of assessing the definitive repair so that we can see are there any indications now of what the patient's needs might be in the future. Certainly the most important aspect is having a patent reproductive tract so that when menstruation occurs there will not be a risk of obstruction. So the minimum should be patency, but that we are collecting data to find if we could find some indicators to give us a clue for the future. Leslie, a quick question. You said that you do this exam, uh, at the time of puberty, but after menstruation. But if, if there is lack of patency, if there's a stricture at the top of your vaginoplasty, then, uh, you may not have menstruation. You may not know when menstruation actually started. So how do you monitor for that? So, um, actually we would have made an assessment of patency much earlier, right at the definitive repair. So our goal is to say a definitive repair, colostomy closure, creation of the loan, there are all these steps along the way. Then we would have followed the patient with serial ultrasound as you saw on the earlier slide following the endometrial stimulation followed then by after the onset of periods, another ultrasound. So by the time that exam occurred, we would have hopefully already delineated that patency of that system. But yes, I agree with you. The issue is to make sure that the system is patent before menstruation occurs, but I hopefully am advocating for all of the collective teams participating today that assessment should occur. There are many opportunities to make that assessment along the way and that availing ourselves of that opportunity is probably the strongest move. Let me say, let me say something, uh, lady, uh, I don't know if you were just about to mention that. Uh, when we examine the patients when they become adolescent, we may find a ring-like, uh, stricture in the introitus which is relatively easy to, to, to repair with a small operation, a little plasty or any other technique, but sometimes we find that the patient has a vagina that we, we pull down with or without bowel, but it's a, it's a. It's patent, but it's uh is is very fibrotic. It's it's not elastic. It's kind of narrow in its entire length and uh and then for that particular group of patients we have been doing rectal patch patches. In other words, if we see that the patient gets a redundant rectum, then we go posterior cycl and study the blood supply of the rectum, select a piece of the rectum, open it, and patch that vagina from behind. And that uh uh allows the patient to become sexually active. That's only indicated if the patient has one of because the alternative for those patients will be to remove that vagina and bring another one would be a major procedure. So we find that a useful alternative. And Doctor Pena brings up a great point that you have to sort of assess the situation for each patient, right? We talked about the use of oral mucosa or buccal mucosa, which can be a great option for some patients, but we, I think on the panel already discussed there are some patients that we learn over time maybe do not rely on the actual rectum or the musculature in that area for bowel control. They may actually be doing an enema every day. So perhaps using a small segment of the rectum as Dr. Pena described to patch the vagina may be actually a great procedure for a patient who's doing an enema every day, may be a great answer for them to have an adequate vagina. So I think it is including those other aspects of their care and deciding what might be best for them. But just referring to Dr. Langer's question, you do survey these, these girls going into adolescence at near time of puberty with ultrasounds, pelvic ultrasounds, as well as you get blood work and their hormone levels to determine when they might begin menstruation. Sure, so I, I hope, Doctor Langer, because It's a very important point that you're pointing out that making sure that all things can drain before they start draining. I totally 100% agree. I'm hoping, however, that when people finish the global cast today, they'll say, gosh, I have lots of opportunities to make that assessment long before, like I see breast buds. So hopefully we would know already. If you don't, then yes, when you see the breast buds emergency, we need to figure it out. It is a problem, I, I have to say for, uh, for people who are working in areas where the patients come from a long way away. I would say particularly in developing countries, and there, I think there are a lot of people on the, on the webcast today who come from places where that's the case, and Trying to do that long term follow up and have people uh with the expertise to do that follow-up properly, uh where these patients live is a is a serious challenge. Yeah, yeah, I agree, and I think that's why I included these few slides we have coming up. About long term follow up because I think we're learning more and more and that's where some of these indices that we find early on immediately after the definitive procedure may help to guide us on what do we need to do. This is the most exciting for me. That's why I'm rushing to include it. We started to look at our population long term. So, um, we have a long term outcome survey which was initiated for patients who are 18 years and older looking at gynecologic, reproductive, sexual, and obstetric data. Uh, primarily use a female sexual function index, um, also comparing their anorectal malformation, diagnosis and treatment. This is a, a SurveyMonkey survey. I just, uh, included the picture with the first question of the female sexual function index. At the time that we sent the survey out, there were 192 eligible patients who would have been over 18 years of age. Um, therefore, those patients were deceased at the time. We've received 82 responses, 5 patients declined, and of those patients remaining to sift through their data, so there was interestingly enough that women diagnosed with colia were more likely to have an additional gynecologic condition such as PID, infertility, endometriosis, or PCOS than women with other anorectal malformation diagnoses. We primarily use the female sexual function index that's actually relevant for patients if they're sexually active, but there will be other surveys that people could do if they're not sexually active that talk more about their desirability and their interest in intimacy. Obviously I'm sitting on this panel with other experts including urologists and colorectal surgeons because desirability and intimacy can be related not only to your anatomy. That can be related to the fact that if you're urinary incontinent or fecally continent, and would you be interested in engaging in intimacy if you're nervous about losing your continence during that intimate time frame. So the preliminary data that we have I can share with you about pregnancy data is that we had 40 pregnancies from the patients who returned their information in 25 patients. It had 35 live births, 1 neonatal death, um, 22 patients underwent C-section, and 7 patients had vaginal deliveries. One of the deliveries, because it's included in a note written by another provider, we're unsure about the type of delivery. Um, 5 patients underwent miscarriages and then we stratified the patients, um, for their anorectal malformation, so you can see it doesn't include only Cloaca patients and of the patients 9 of them were Cloaca, so I included this slide that when I submitted it looked like it would be easy to read but looks like it might be a little bit more challenging to read but um includes the 9 Cloaca patients and the interesting part of this is that all of the 9 Cloake patients were all delivered by C-section. Um, we had as a team, really had made recommendations that patients who have had a cloacus should likely undergo C-section, um, but there's really not a significant body of data regarding their outcomes. I mentioned that if patients have an extensive surgical repair and they have a good functional outcome, I'm not sure that it's reasonable to consider any damage to that with a vaginal delivery. Especially in patients who have a neovaginal graft, it's not an opportunity for them to have a vaginal delivery, so those patients should be considered for delivery by C-section. However, I think it is important to think about patients who may be potentially catheterizing either by metrofenoff, patients who may be using them alone potentially to deliver an enema every day. That perhaps those patients, even those who may have had a bladder augmentation, may have more risk to an actual C-section than a vaginal delivery. So continuing to acquire long-term data is essential for us to really learn what is the right recommendations for patients. Um, the last part was about the role of laparoscopy. I'm, I'm looking at our course director to find out if I can continue, um, based on the amount of time in our other collaborators. I would just mention that, um, it allows assessment and mobilization of Mullerian structures, so laparoscopy could have a role in patients where potentially you can't access the Mullerian structures from the perineum, and laparoscopy may allow you to make that assessment. Um, we mentioned about the patient who had the laparoscopic drainage of hydrocopos that also allowed us to make an assessment of the reproductive anatomy and decide if there needed to be additional drainage, so we were allowed to see the entire reproductive tract. It also allowed us to do dissection of the vagina away from the posterior aspect of the bladder and the rectum so that it may minimize the amount of incision that the patient needs during the actual definitive procedure. So laparoscopy has had some advantage in some of our patients, and I think it's especially been in patients where they have had some complexity to their Mullerian system. So do you want to show some of the pictures quickly and then we'll move to Shamal, Doctor Allam, um, just in the interest of time. So while you're doing that, let's, uh, Doctor Alam, if you can hear us, now is the time to go ahead and connect your microphone and your camera, and we'll be coming to you in a minute. You sound like you might be ready, Doctor. Oh, good. OK, perfect. Um, I think the pictures that we just wanted to show, you wanna show the laparoscopic. Yeah, why don't you show some of the laparoscopic views on, um, because I think, you know, with the advent of laparoscopy, we've been able to see, um, and assess the Mullerian structures potentially earlier than, uh, we may have previously. Um, you don't require a laparotomy. I think when we do laparoscopic, um, colostomy and mucous fistulas now, um, we're able to look at some of those structures, and it will help eventually as well counseling the families and predicting, um, our, our repair. So this is a, a patient who's undergoing a redo procedure in our institution and of course I'm fast forwarding and wanting to show you the reproductive structures is the juiciest, most exciting part of the whole case, but. Um, so this is the left Mullerian structure, and this is the body of the uterus. You can see the fallopian tube and the ovary on that side. Actually, this patient had a hemi vagina connected here that was um able to be mobilized during this procedure. Um, this is, you can see, remember when I showed you the very gentle, very delicate finger and thumb that I have when I hold those? This is us holding very gently onto the distal aspect of the fallopian tube and cannulating. Um, laparoscopically to assess the patency of this reproductive tract. So this allowed us to do a laparoscopic assessment and then we were able to mobilize the left Mullerian system by laparoscopy so that that could be brought down to the perineum. So the left side was fully mobilized using laparoscopy. This is the atritic appearing right Mullerian system, so I showed this to you on purpose so that you can see the difference in the way that looked. This is the atritic side on the right. This is the um ovary on that side as well. And the question that I would pull if I could pull is if we think that there's any risk to leaving this structure in place for this patient. I just wonder if most of the surgeons would leave that structure, remove that structure.