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Gastroschisis: A Bizarre-Sounding, Frightening and Increasingly Common Birth Defect

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Gastroschisis: A Bizarre-Sounding, Frightening and Increasingly Common Birth Defect

Mar 05, 2015
What if your baby was born with some of its internal organs outside the body? You may not have heard of gastroschisis before, and therefore think it鈥檚 a rare condition. But rates of this birth defect have skyrocketed in recent decades, especially for young mothers. Dr. Kirtly Parker Jones talks with gastroschisis researcher Dr. Marcia Feldkamp about this shocking and scary birth defect, its recent treatment advancements and resources for parents.

Episode Transcript

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 亚洲自慰视频 of Utah 亚洲自慰视频 Care and this is The Scope.

Announcer: Medical news and research from 亚洲自慰视频 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 亚洲自慰视频ren 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 亚洲自慰视频 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 亚洲自慰视频 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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