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Interviewer: Dr. Stephen Jay Fenton is a pediatric surgeon and also an expert in congenital diaphragmatic hernia. So, most of the time, it's diagnosed before the woman has given birth. So, this diagnosis comes in, what are some considerations that the woman, the mother, the family are going to have to do at this point?

Dr. Fenton: Once this woman has diagnosis they need to be referred to a maternal fetal medicine physician, so someone who deals with high risk pregnancies. And one of the things associated with that is that they need to be followed closely during their pregnancy. One is to ensure the safe delivery of the child and then also in preparation as far as what will happen once the child is born.

I think it's important for the mother to know that this is something that will require treatment for a long time after the child is born. So I typically would say three, four, to six months afterwards, that child will need to be in hospital that takes care of these types of kids. And so sometimes it might require relocation or making sure they have a support system away from their house. For example, if they live quite a bit away from the children's hospital that deals with this specialty, they may need to start thinking about the Ronald McDonald House or finding some other place that they can live.

Interviewer: Wow, so this diagnosis is a serious thing.

Dr. Fenton: Yeah, I mean over the past 10 to 20 years the survival rate has improved, but it still is one of those diseases that takes a lot as far as to treat the child once they're born and then afterwards to help the child continue to grow.

Interviewer: What's the conversation that you have with these families? Take me through that conversation, some of their concerns, their questions, the things that you tell them that are important to consider.

Dr. Fenton: So, after getting past the basic questions of what is a diaphragmatic hernia and how is it treated, the things that I really focus on are we need to find out a little bit more about the child. So, one of the things that we'll get when they come to our office is what we call predictive or prognostic predictors.

So, a lot of times they will have already undergone ultrasounds, several ultrasounds, to look further at the child. One of which is of the heart, so a fetal echocardiogram. We want to know whether the child has a congenital heart disease as well because that does complicate things when the child has not only a diaphragmatic hernia, but has congenital heart disease as well. They are at a much higher risk of not surviving.

And it also limits some of the things we can do, especially as far as the ECMO or the heart lung bypass, if the child has a structural heart defect we can't put them on ECMO. So, the families need to know that.

Additionally we want to know what their chances of going on ECMO are and what their survival ability is. So, we look at these different things. One is the lung to head ratio, which is obtained by the ultrasound. Then the other is the total lung volume which can be obtained by the MRI. And those, depending on what the lungs look like, so the ratio of the lungs to the heads and/or the observe to expect of total lung volumes.

We can give parents the percentage of whether their child is going to require ECMO support and/or what their survivability is. And so the parents, when I talk to them, I almost talk to them much more about the support that the child will receive before and after repair, than the repair itself. Because the repair is really a step and only one of many steps in the care of the kid once he's born.

Interviewer: Wow. So, how do you help parents take all this information that you just talked about, head-lung ratios, and how do you make them make sense of what they should do at that point?

Dr. Fenton: Well, I think it's hard, especially for the initial visit, because a lot of information is given and so we will talk to them upfront and then we'll see them once they come into the hospital again to give birth. And talk to them once the child is born as well, and we can gauge. Obviously all of these are predictive.

They're not definitive and so it's after the child is born that we see how they're doing, that we kind of give them a little bit more of a definitive plan as to whether we feel like the child's going to need ECMO or whether we feel like when the child can be repaired. And some of the consequences as far as neurologic cardiac long-term pulmonary support. A lot of times we can't necessarily give them that until we are in the midst of taking care of the child.

Interviewer: What options do parents have at this point?

Dr. Fenton: I honestly refer my patients out to websites as well. "I feel like I've given you a lot of information. We want you to know more." There are support groups, CHERUBS is one, as far as the parents can Google. I also had them look at WebMD. I've actually found most parents to be very well informed when they come in even to the prenatal interview. So the very first kind of clinic visit that we have, I found that most parents who come in have already read up quite a bit about it.

Interviewer: Yeah, because they were told about the diagnosis and they're very curious and want to know.

Dr. Fenton: Exactly. And I think that helps. I mean having the parents be informed already about what it is and having specific questions as far as okay, so, tell me about ECMO. Tell me about reflux, and tell me about when you're going to do the repair and what the repair options are. It helps with the conversation already.

Interviewer Do some parents at this point after they get this information choose not to continue the pregnancy if they think... if you think I should say, it's going to be really bad?

Dr. Fenton: Some do. Yeah. I mean some will discuss options of whether to be able to continue the pregnancy or not. Obviously depending on the gestational age of the child, that might not be an option anymore. More often what is talked about is palliative care. So, meaning how aggressive to treat the child afterwards and how much should be pursued.

I would tell you that most parents say, "I want everything done. We'll go forward and certainly want to help the child, after they're born in whatever way is possible." But there are some times where we can't do that. And so I think it's important to have that discussion before, of what are the limits and the possibility of needing to do either palliation immediately after the child is born. And/or when have we exhausted all medical means to help this child.

Interviewer: So, after a diagnosis of CDH, can a child live a normal life after you've done what you needed to do to rehabilitate?

Dr. Fenton: Yes, I think that's the key. We've done what we needed to do rehabilitate or to treat the child, and obviously there is a pretty high mortality associated with CDH now. It has improved greatly over the past two decades. But it's still a serious disorder. There are some kids that have lungs that are so small and so underdeveloped that we're not able to treat those.

Now, the children that we are able to treat, they can go on and live a very productive lives. Some of them may have some challenges secondary to the treatment themselves. They might need oxygen support. They might not be able to exert themselves as much as a consequence of treating their underdeveloped lungs. But most of them can go on and live great lives even if they require some support.

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Interviewer: Congenital diaphragmatic hernia, what is it? What causes it and what can you do about it? We'll cover the basics of this terrible birth defect next on The Scope.

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Interviewer: Congenital diaphragmatic hernia, also known as CDH. You might not have ever heard of it but it's likely more common than you thought. It's estimated about 1 in 3,000 children are born with it, which puts it with diseases you've heard about like spina bifida, which is one in 1,000 or even cystic fibrosis, which is about the same, one in every 3,000. Dr. Stephen Jay Fenton, the pediatric surgeon is also an expert in congenital diaphragmatic hernia. Thanks for taking time to talk about this somewhat unknown disease. Is that a fair assessment?

Dr. Fenton: It's obviously well known to us. We take care of it often but I think maybe some of it is secondary to the survivability. I mean it isn't something where kids will live as long as some of the kids with cystic fibrosis. So there are not as many families out there that are dealing with these types of kids. There is about 40 percent to 50 percent mortality rate associated right off the bat with congenital diaphragmatic hernia.

So now the children that survive, most of them will go on and live normal lives as a kid but it's something that's dealt with in the neonatal period primarily and not later on in life and so that might bring a little less notoriety to it.

As far as cystic fibrosis there's a lot more kids although it's one in 3,000. There are a lot more kids with cystic fibrosis kind of walking around out there. Some of it may be who is the champion for it, whether there's celebrities that are champions for cystic fibrosis or whatnot. I mean I think that might play a part as well.

Interviewer: Yeah. So a pregnant woman is told her baby as CDH. What does that mean for the child?

Dr. Fenton: First of all, we should just kind of talk about what it is which is basically a hole in the diaphragm. And the diaphragm is the muscle between the abdomen and the chest. And what happens is this hole develops early in the development of the child and causes bowel or solid organs to herniate up into the chest.

When it does this it arrests the lung in an earlier stage of development. And so what ultimately happens is not a matter of the intestines or liver, let's say, being up into the chest but it's actually result of very hypoplastic or underdeveloped lungs as well as thickened pulmonary arteries. And that's really the big consequence of a CDH.

Interviewer: I see. It's not a physical hole you see though in the stomach. It's all internal, right?

Dr. Fenton: It's all internal. Yeah, you would never see it on the child. The only thing you really see on the child is that their belly looks really, really flat and it looks much flatter than normal because some of their abdominal contents were up in the chest.

Interviewer: So if I'm understanding correctly what happens is because of this membrane is not there, the organs move up and is that what stunts the growth of the lungs?

Dr. Fenton: Exactly.

Interviewer: There's just no space for them to grow.

Dr. Fenton: That's exactly right.

Interviewer: Is this something that can be detected before the woman gives birth?

Dr. Fenton: Oh, yes. Yeah. The great majority of these are detected prenatally, during the screening ultrasound let's say. So ultrasound is very good at detecting the herniation.

Interviewer: So give me an idea of the degrees then. How many children are born and it's not super serious. It's something that can be... or is it always super serious?

Dr. Fenton: Yeah. Very, very rarely. Every now and then I would say we get a child maybe one or two, every couple of years that come in and are great. Most kids though come in with a pretty big defect and because of the size of the defect they have very underdeveloped lungs and have something called pulmonary hypertension which is also a consequence of the underdevelopment of the lungs and they're sick.

They require ventilatory support so they need to be on a ventilator. They require medications sometimes to help with their blood pressure and how well their heart is working. And they also require medications to try and help open up the pulmonary arteries in order to reduce what we call pulmonary hypertension which is really something that we did as challenge immediately after birth.

Interviewer: As a surgeon then, what do you do to try to solve this problem?

Dr. Fenton: Well, the surgery is a major step but it's not the first step as far as these are concerned. Once the kids are born, the key is really to stabilize them from a medical standpoint. So we want to try and help them breath, but we want to do it in a way that won't cause long term damage to the lungs. So we want to kind of do this gentle ventilation if possible and sometimes that can be very difficult because they require quite a bit of support.

We also want to make sure that we're supporting them from a cardiac standpoint. So we need to make sure that their heart is working well, that their blood pressure is normal. And then we need to work them up for any further anomalies. And then once they've stabilized their pulmonary hypertension is under control, we feel like they've been stable for at least 24 hours then we repair them. And this does require surgery, so we do make an incision in the abdomen and we go in and we go find the hole and there's really kind of three options that we can do to fix it.

So one is the hole really isn't that big and we're able to bring the two edges together without tension. When we can do that, then we just close it what we say primarily. But most of the time the holes are bigger than that and we can't close it without tension. So in that case we can either put a synthetic patch in, something that has called it a dual mesh. It has cortex on it so it protects the lung on one side and kind of allows tissue to grow into it on the other side. And that will allow us to close the hole without tension.

One of the things that we do here at Primary's is what we call a muscle flap. The abdominal is made of three muscles to the side and we actually take the internal-most muscle and rotate it inward and sew it in. So it's what we call a biologic fix, meaning that it's actually part of the baby that is helping repair the hole. And we like that because we found that it reduces the risk of it coming back. So reduces the risk of recurrence and then it also grows with the child.

Interviewer: Okay. So after the repair is done, the organs are back where they belong. What's the recovery process at that point?

Dr. Fenton: So it's still quite a bit. Now I usually tell parents they should plan on their child being in the hospital for three to four months.

Interviewer: Will the lungs ever fully develop properly?

Dr. Fenton: Yeah. Well the lungs actually continue to grow until the child is around eight years of age. So with support, and if we've been able to use gentle techniques to the point where the lungs aren't damaged, then they should be able to grow to the point where the child can live a pretty normal life. Now some of them are so severe that they will have some pulmonary consequences later on in life. They might still require some oxygen. They might not be able to exert themselves as much without being tired.

Now I think something that is important is that these kids are kids that should be followed for a long period of time. So they will still have some consequences of pulmonary hypertension. So it's not a child that after their repair and after they leave the hospital, we don't see. They're actually children that are still followed by specialists.

Interviewer: Do you have any thoughts for parents or families that found out that this is a birth defect that's in their family?

Dr. Fenton: I guess the biggest thing to say is that they can be well supported. Even though it's not known commonly throughout the community, it is something that we treat very often at Primary Children's Hospital. There are a lot of specialists that deal with this not just from the surgical standpoint but from the lung standpoint, from the neonatal standpoint, etcetera. And they can come and see these specialists and get the support, that information that they need that will help them not only through the difficult time prenatally but also through the time immediately after birth and then throughout the child.

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Dr. Jones: Gastroschisis, that's a big long word that's scary and maybe you've never heard of it, but it's a condition that is a birth defect that's becoming increasingly common. One in 400 women under the age of 20 will have a baby with gastroschisis. So what is it? When do you find out about it? What can you expect in the first days of your baby's life and where do you go for help?
This is Kirtly Jones from the Department of Obstetrics and Gynecology at University of Utah Health Care and this is The Scope.

Announcer: Medical news and research from University of Utah physicians and specialists you can use for a happier and healthier life. You're listening to The Scope.

Dr. Jones: We're talking in The Scope studio today with Marcia Feldkamp. Dr. Feldkamp is a PhD researcher in the area of birth defects with a very special interest in gastroschisis. So Marcia, gastroschisis is a term that most people aren't very aware of. They think it's very rare. So let's talk about, again, what gastroschisis is and then we're going to talk about what the numbers used to be, what they are now, and what they are in young women, which is brand new information to me.

Dr. Feldkamp: Gastroschisis is an abnormality of the abdominal wall, so the belly. What happens, and we don't know exactly when it happens in the embryo, but it happens sometime during the first trimester, where the intestines are actually on the outside of the abdominal wall. Sometimes other organs are involved. The babies are born and it's a pretty . . .

Dr. Jones: Dramatic.

Dr. Feldkamp: . . . dramatic looking defect when the baby is born.

Dr. Jones: It's dramatic.

Dr. Feldkamp: If the mother is not prenatally diagnosed with this condition, it can be shocking to them because that bowel is sitting on the abdomen when it should be on the inside.
So in terms of the prevalence, we know that gastroschisis has increased over the last several decades. It used to be around 1 in 10,000 births. What we see nationally, it's around 1 in 2,200, 1 in 2,400 depending on the area of the United States. Some countries are not seeing an increase. Other countries are seeing the increase. The increase is primarily among young women.
So the largest number or greatest prevalence is in women who are under 20 years of age. The next age group is 20 to 24. Women who are over 25 years of age, the risk drops to a very low, low risk.

Dr. Jones: So in the under 20 year old, how common is it?

Dr. Feldkamp: In Utah, it's about 1 in 480 births.

Dr. Jones: Now, that makes it very common.

Dr. Feldkamp: Very common. Yes.

Dr. Jones: There are pictures on the web of babies with gastroschisis if you can Google that. When you first see it, is pretty shocking. Although, we usually have these babies transferred with this diagnosed to a center where we can get them delivered into the right hands. Can you talk a little bit about where people should be delivered in delivering these children who could get quite sick into the right hands?

Dr. Feldkamp: Yeah. So what you want if you're prenatally diagnosed is to be delivered in a center where you can quickly be transferred to a neonatal intensive care unit so that they can either do a procedure called the silo, which is where they allow the intestines to actually drop back into the abdominal cavity as necessary. What you don't want to do is close that abdominal wall defect quickly because they run into problems with breathing. It compresses the lungs.
So you want to get them into a NICU very quickly. That's where we've seen a very great improvement in terms of mortality. Mortality used to be 90 percent in the 1960s and 1970s. It's now under 10%. That's because of NICUs and the ability to do parenteral feedings.

Dr. Jones: Parenteral feeding, not parental. Parenteral.

Dr. Feldkamp: Parenteral feeding. So the two . . .

Dr. Jones: Let's talk about parenteral feeding, which is feeding through a tube, not through the breast.

Dr. Feldkamp: Thank you. So that has really improved the mortality. So babies don't die from this condition or the actual secondary effects of this condition.

Dr. Jones: Right. So the first thing is if it's diagnosed early and in fact, most women do get a 20-weeks scan, be prepared if you're the mom or somebody who knows the mom to be transported at a time so that the baby can be at or near a pediatric intensive care unit. The second thing is the baby is going to have to stay in the hospital for a while, sometimes a long while.

Dr. Feldkamp: Sometimes a long while. It depends on the complications related to the gastroschisis. So if they're born with intestinal atresias . . .

Dr. Jones: Meaning in the process of maybe closing a little bit, the bowel that gets cut off its blood supply, so it just doesn't develop.

Dr. Feldkamp: Right. And so you can't pass the meconium. You can't pass stool when the baby is born. So that actually has issues and can have long-term issues if surgeons have to actually remove part of the bowel that has become dead. So that becomes an issue with feedings.

Dr. Jones: Feeding is first. Nutrition, how are gut actually handles our nutrition and passes things through our body, and then eventually don't they try to close the abdominal wall? These kids aren't born with open tummy for the rest of their life.

Dr. Feldkamp: Right. They do try and close the abdominal wall. They have to do that very slowly.

Dr. Jones: In stages.

Dr. Feldkamp: Yes.

Dr. Jones: So now we've done a lot of good work. We've gone from mortalities at 90% to 10%. We have got great surgical techniques and great feeding techniques. Now we understand what little tiny babies need. But the next step is trying to understand a little bit about the causes if we're seeing 1 in 400 young women have babies with this birth defect. That seems to be my idea of this because I see all the numbers of the sick babies that come to our university and there are quite a few.
So now our issue is how to find out about it. What do you think? What are you thinking these days? Is it we don't know yet, we need more information, we need to be able to count it?

Dr. Feldkamp: We definitely need to be able to count it. We don't know a lot yet. Certainly young maternal age is the strongest and most consistent risk factor. Smoking, so tobacco use has been associated with gastroschisis. But I think if you look at some of the epidemiologic characteristics, the interesting thing to be is that infection in these young women is increasing in general, in the general population.
So if you look at sexually transmitted infections and urinary tract infections in women who are making their sexual debut, they're more likely to have a urinary tract infection. So that's one area of research that I've actually been working on because the characteristics of sexually transmitted infections are similar to the characteristics of gastroschisis. Young maternal age, they're both increasing. So is there a correlation there?

Dr. Jones: I just saw a paper because I was looking as I'm interested in air pollution, that suggests that bad air quality, high PM 2.5s is associated with the doubling of the risk of gastroschisis. Have you read anything more about that? Is that an issue or is it still very preliminary?

Dr. Feldkamp: Yeah. It's very preliminary. It's very difficult to actually get very good estimates on air pollution. It certainly can make biological sense because of the inflammatory response from air particles or pollution particles in the air. So that is one area. I'm not working on that per se, but I know folks from California and elsewhere around the country have been looking at that.

Dr. Jones: There are resources out there to reach out to other parents. Avery's Angels is one site that parents and people who know someone who's going to have a child with this birth defect. Remember, we often find out about it at the 20-week scan. So we have some time to sort of be prepared. So we can reach out to other organizations that can help cushion a very devastating blow, knowing that your child is going to be sick and in the NICU, neonatal ICU. Any other suggestions for parents who are facing a birth?

Dr. Feldkamp: Avery's Angels is definitely specialized in gastroschisis. I don't know of any other parent support group in the United States other than Avery's Angels. Certainly there's the Parent to Parent organizations and Family Voices, which are both national organizations. They're not specific to gastroschisis, but they certainly provide support for parents who are going through difficult challenges after the baby is born.

Dr. Jones: Right. And some day maybe you guys will be able to have a kids group, to have a young kids group.

Dr. Feldkamp: That is an awesome idea.

Dr. Jones: Because kids are totally connected. They can be kid-to-kid. Only know what they've been going through.

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