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Nolan Alexander (Host): Hearing your child or grandchild is diagnosed with something you don't understand can cause anxiety and even concern. Today, we'll look to ease that with knowledge on a unique topic. This is Expert Insights with the Carle Foundation Hospital. I'm Nolan Alexander.

On this episode, we're diving into the complexities of anorectal malformation, focusing on its initial neonatal evaluation and management with Dr. Sandra Kabagambe from the Carle Foundation Hospital. Doctor, how are you today?

Dr. Sandra Kabagambe: I am doing well, Nolan. How are you?

Host: I'm doing well too. And I just want to make sure we're all on the same page. Help us understand a little bit more. How would you define this, Doctor?

Dr. Sandra Kabagambe: Anorectal malformation are a set of congenital anomalies, commonly referred to as Imperforate anus. It's better for parents to understand that this is suspected when on the initial evaluation of the baby after birth, there isn't a visible, normal anal opening. And the clinicians start to suspect that there is an anorectal malformation. And in that case, the suspicion is that the rectum, which is the very last part of the colon, is connected either to the skin or to other parts of the genitrourinary tract.

Host: Could you explain the spectrum of anorectal malformations from the simplest to the most complex, and how that classification drives your surgical decision-making?

Dr. Sandra Kabagambe: Yeah. First, let's start with the set of anorectal malformation in male versus female infant or newborn. Starting with male anorectal malformation, we can try to think of them as high or low anorectal malformation, and those can dictate approach to how we eventually treat the patient. Overall, when a male baby is born, we look to find if there is an anus. A normal anus is one that is located in the middle of the muscle sphincter complex. Those are the muscle in the anus that allow us either to let stool go out or retain it. And if the opening is not inside that muscle sphincter, then we know that there is a problem.

And the question becomes what is the rectum connected to? And usually, we wait for 24 hours to find out in a male baby. And after 24 hours, we try to see if there is any sign of meconium. That is the sticky black poop that usually newborns have. And if we don't see any sign of that on the skin, then we suspect that there is either no connection or the connection is to the genitrourinary tract. And that will raise the suspicion for potentially a high imperforate inus, but the way to know is later in life. But we start by creating what we call a colostomy, bringing the colon opening to the skin so that the baby may have a way to evacuate stool, be fed and grow until we can further investigate where the connection between the rectum and either nothing or the genitrourinary tract is located to eventually create an anus. But if there is an opening to the skin, then the baby may avoid a colostomy. That is that we can either dilate that opening to allow stool to be evacuated and eventually create an anus or, in some situations, the anus can be created upfront.

Now, let's talk about the female baby. Upon birth, what we looked for on exam is how many openings do we see in the bottom? If the reason, what appears to be an anus within this sphincter complex. To do that, we do a genitrourinary evaluation. And in that process, we want to see the vaginal opening. So, that is the opening of the vagina. Right above it, there is another opening, which is the urethra, and separate from that, with a skin bridge called the perineum, we have the anal opening. So if we see a urethra, a vagina, the question is where is the third opening? Most commonly, that opening will be right behind the vagina because the most common anorectal malformation in a female baby is called the rectal vestibular fistula, meaning that there is a connection between the rectum and the vestibule right behind the vagina. And in that case as well, that can be dilated to allow stool to be evacuated and for the baby to grow to eventually do the surgery without a colostomy. And in some cases, the surgeon could perform the repair upfront. A perineal fistula is also amenable to that.

The only situation that may require delaying a colostomy and more complex repair is typically a what we call a cloaca. A cloaca is a situation in which the urethra, the vagina, and the rectum open into a common channel. And in that case, during the initial exam after birth, there will be only one hole that we can see.

Host: Doctor, you went over so much there. And it seems like there's just different types of procedures available as you highlighted. Can you elaborate those a little bit more? In some cases, this a single procedure and then, in others, is this multiple procedures over time?

Dr. Sandra Kabagambe: Yes. So for female infants, usually, the cloaca will be the one that will dictate a multi-stage operation. In male infants, it depends. So if there is a perennial fistula, they may avoid a colostomy and just have a single-stage repair, which is the creation of the anus itself, either early after birth or later, a few months after birth, if the stool can be evacuated just through the fistula. And that is surgeon-dependent or baby-dependent. And that is like a risk that is balanced, with risk of anesthesia, other associated anomaly. But in cases where in male infant, the reason a perineal fistula, which means an opening on the skin between where the anus will be located and the genitrourinary tract, that will warrant a multi-stage repair.

The first stage is a creation of a colostomy. And the benefit of that is, first, to be able to evacuate stool and feed the infant and, second, down the road, to be able to establish the anatomy where that fistula is connected to the genitrourinary tract. And that will help inform the type of operation that the baby needs to create an anus. The third stage of the operation will be the closure of the colostomy. So first, colostomy creation; second creation of the anus; third, colostomy closure. So, that is the three-stage operation in case of what can also be referred to as high imperforate anus.

Host: You did a great job coming back to recap that, Doctor. I want to go on opposite sides of the timeline, before in the prenatal imaging stages, and then I want to come afterward for long term. So to begin with, what prenatal imaging findings might suggest an anorectal malformation? And how do you approach counseling parents who receive this news before birth?

Dr. Sandra Kabagambe: Prenatal imaging that will suggest or raise the suspicion for an anorectal malformation will be a dilation of the rectum. And that by itself will lead the maternal-fetal medicine specialist to refer the pregnant patient for counseling. And in the team of people who counsel the pregnant mother will be a pediatric surgeon.

And in terms of prenatal counseling, what we focus on is what to expect during pregnancy, whether they're available prenatal intervention or not. Also, associated anomalies and also what will happen immediately after birth, what will be the short-term expectation during the neonatal period? And also, what to expect long term.

So, let's say if a pregnant woman came to see me because a suspicion of anorectal malformation, I will also inquire about other findings that will suggest what we call a VACTERL association. Because in babies with anorectal malformation, we have to rule out those other potential association. Those include vertebral anomalies, the anorecal malformation itself for the A, renal anomaly or anomaly of the urinary tract, tracheo-esophageal atresia or tracheo-esophageal anomalies, cardiac anomalies and limb anomalies. So if there is no suspicion of any other associated problem, normally, the pregnancy should be carried to term if possible. Because currently, there is no prenatal intervention per se for anorectal malformation itself. And the diagnosis is confirmed only after birth.

So prenatally, I tell the parent, this is a suspicion that you're going to confirm only after birth through a physical examination. And once that is confirmed, then we will determine if a colostomy is needed or not, or if this is something that can be repaired in a single stage. I will also help the patient, the parent, anticipate that, long term after repair, there could be issue with constipation or incontinence and those can be managed through a bowel management program. So, that gives them like an overall understanding of what to expect, and I think that puts the parent at ease, so that they may go through the postpartum period, understanding what will be happening with the baby.

Host: And thank you for touching on the long-term outlook. Is there anything else besides what you've mentioned that you feel is notable for parents?

Dr. Sandra Kabagambe: Sometimes parent asks, "What are the chances of those long-term outcomes?" And what I tend to tell them is following birth, when we do the initial postnatal assessment, we also look at overall the development of the sacrum, the buttocks, and all the muscles in that area. And theoretically, that helps predict that the child maybe has better chances of having better function overall. I still believe that what places them even more at ease is that we have a way to correct anorectal malformation to allow the child to evacuate stool and to have a way to function in society even long term.

Host: Well, Dr. Kabagambe, thank you so much for your time and your insight today.

Dr. Sandra Kabagambe: Thank you.

Host: For more information and to get connected with one of our providers, please visit carle.org. And that wraps up this episode of Expert Insights with the Carle Foundation Hospital. I'm Nolan Alexander, and thanks for listening.