Managing the Complexities of Congenital Diaphragmatic Hernia

Congenital diaphragmatic hernia (CDH) is a complex and challenging anomaly in which attention to every tiny detail is crucial to achieving the best outcomes. In this video series, experts from The Children's Hospital of Philadelphia present a full overview of CDH, the comprehensive care required to manage the condition, and the ongoing research that holds promise for affected babies. You'll also hear from a patient family about their experiences being diagnosed with CDH.

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Antoinette Spence, parent: We were going for our 20-week ultrasound, which was the last ultrasound of the pregnancy.

Anthony Spence, parent: We had decided to find out whether it was a boy or a girl.

Antoinette Spence: We were so excited that we found out that she was girl that we didn't notice that the ultrasound technician kept going over the same spot.

Anthony Spence: The doctor told us that there was a problem.

Antoinette Spence: A hole in Simone's diaphragm

Anthony Spence: A very serious condition

Antoinette Spence: My husband often describes that he felt his heart drop at that moment when we found out that she had to have surgery and had this complicated illness that we had never even heard out of.

Holly L. Hedrick, MD: Congenital diaphragmatic hernia is a birth defect. It's a birth defect that happens very early in gestation.

Mark P. Johnson, MD: The diaphragm doesn't form properly between nine and 10 weeks of gestational age.

N. Scott Adzick, MD: There's a hole in the diaphragm muscle, usually on the left side, that has catastrophic effects before birth.

Holly L Hedrick, MD: An event happens where abdominal contents move into the chest.

N. Scott Adzick, MD: The intestine and other organs in the abdomen can go up through this defect, into the chest, and compress the developing lungs.

Mark P. Johnson, MD: Because there's so much other tissue in the chest, the lungs can't expand and grow and develop normal.

N. Scott Adzick, MD: It's of little consequence before birth for the baby getting oxygen and that sort of thing, but the real road test begins at the time of birth when the umbilical cord is clamped, and those small lungs have to work.

Natalie E. Rintoul, MD: The problem starts with the hole in the diaphragm, but that's not the whole story. Really, a lot of times what we struggle with are the pulmonary vessels. The pulmonary vasculature is very small.

N. Scott Adzick, MD: You can imagine a tree with a trunk and branches and twigs all the way out to the periphery of the tree. In babies with diaphragmatic hernia, not only is the room for the tree small, but the tree is very pruned so there are many, many fewer vessels per cross-sectional area of lung. And those blood vessels that are present are abnormal in that they are — they have enhanced or increased muscularization that tend to make them pinch down, clamp down.

Marcus Davey, PhD: When this muscle constricts, it actually decreases the lumen of the vessel and reduces blood flow to the lung.

N. Scott Adzick, MD: As the heart after birth tries to pump blood through the lungs, it has a difficult time and there's pulmonary hypertension, high blood pressure in the pulmonary circulation.

Holly L. Hedrick, MD: And that ends up being, in most cases, the single most important factor in determining whether or not they can survive.


Lori J. Howell RN: Having a high volume of diaphragmatic hernias has enabled us to predict better for families where their baby — their unborn baby — will fall in the spectrum of severity.

Antoinette Spence, parent: All the information that we found on the internet made it seem like it was really hopeless.

Anthony Spence, parent: The situation looked bleak to us.

Antoinette Spence, parent: It was extremely agonizing. I mean, I just kept on researching and finding out all of this information that was making me feel worse and worse about the situation.

Holly L. Hedrick, MD: Most moms who are diagnosed with a congenital diaphragmatic hernia come to us after their 18- to 20-week ultrasound. So we meet them very early on.

The evaluation that they receive here includes, usually, a high-resolution ultrasound, which can take two-, two-and-a-half hours. The ultrasonographers are very careful to look at every single detail. The evaluation also includes a fetal MRI. We found that to be very helpful in determining liver position and in determining how much liver is herniated. They also all receive an echocardiogram. There is an association with congenital diaphragmatic hernia and congenital heart disease. And so it's very important to know if that those two are coexistent because it changes how things are managed.

Antoinette Spence, parent: At that time they were just diagnosing all of the specifics of how severe her condition was. So that was really comforting too that they were really being thorough and finding out exactly how severe things were.

Lori J. Howell RN: In the prenatal world there still is no lung-function test so that we have spent a tremendous amount of time looking at other criteria to tell us how well this fetus is going to breathe once it's born.

Mark P. Johnson, MD: There's a measurement that we use called the "lung-to-head circumference ratio," or LHR. And we've been able to take that ratio of the cross-sectional area of the lung, divided by the circumference of the head, and break that down into different categories to be able to correlate that with long-term survivals and risk of other complications.

N. Scott Adzick, MD: Clearly, babies that have a severe diaphragmatic hernia, have severe congenital heart disease, is a very poor prognosis group. Those babies that have a severe chromosomal disorder and diaphragmatic hernia, that's, you know, virtually uniformly fatal. For those babies with an isolated diaphragmatic hernia, we usually talk in terms of fetal liver position and the LHR. For those babies with the liver down in the abdomen with an LHR greater than 1.4 — those babies do extremely well, can be quite sick though, of course, after birth. And the survival rate is probably 95 percent plus. Those babies with a very small LHR, say, less than 1, with massive fetal liver herniation, those babies may be in the 50/50 survival rate group.

The crucial factor in whether or not a baby with diaphragmatic hernia survives is basically dependent on the size of the lungs, how well they function, and how well the blood flow is going through them.

Marcus Davey, PhD: We know well before the baby's born that the lungs aren't growing normally and, rather than going in and fixing the hole in the diaphragm, what we really need to focus our research on is trying to make the lungs grow. So that when the baby is born there's sufficient lung size in order to exchange respiratory gases. And one of the ways you can actually stimulate or accelerate growth in the fetus is a surgical procedure called "tracheal occlusion."

N. Scott Adzick, MD: The rationale behind tracheal occlusion or tracheal obstruction is that is fetal lung before birth is full of fluid and that fluid is under positive pressure and that positive pressure is important to distend the developing fetal lung to make it grow. And there's strong experimental evidence that, if you increase that pressure in the developing lungs, with the fluid that's produced by occluding the airway before birth, pressure goes up, lung distends more, lung gets bigger, then that may have a beneficial effect.

Lori J. Howell RN: Tracheal occlusion was first developed by members of our team and where a clip was placed using open fetal surgery.

Holly L. Hedrick, MD: But some of the early cases that were done open were frustrating and the outcomes were not as good as we had hoped.

Lori J. Howell RN: When these babies were resuscitated at the time of the delivery, these were extremely sick, sick babies.

Holly L. Hedrick, MD: We know the lungs grow. They are bigger. But in our first group of patients, they didn't work better. So this was taken back to the lab to try the figure out the mechanisms behind that growth and the reasons that sometimes these lungs, that even though they were bigger, didn't function well.

Lori J. Howell RN: So we essentially abandoned that approach for a number of years.

Holly L. Hedrick, MD: Since that time a technique has been developed to do this in a minimally invasive manner.

Marcus Davey, PhD: They're doing endoscopic tracheal occlusion. So minimally invasive tracheal occlusion, inserting these small balloons inside the trachea to block the lungs and stimulate their growth.

N. Scott Adzick, MD: And then to deflate that balloon with a second fetal surgical procedure either by fetoscopy or with percutaneous puncturing of the balloon, like with an amniocentesis needle to reverse the obstruction, and then the baby would be born shortly thereafter.

Holly L. Hedrick, MD: The great attraction to this is that we've taken the risk to mom way down, and we've taken the risk for preterm labor way down.

Marcus Davey, PhD: So the baby can stay inside the mom for longer. The trachea can be occluded for longer, which also allows greater lung growth.

Lori J. Howell RN: During that time period, there has appeared to be adequate lung growth to warrant further exploring that technique by our center.

Holly L. Hedrick, MD: Now the question is, "Is it better?" And it's a question that we don't know yet, and so we really think it's important to study this very carefully. To choose the right patients.

N. Scott Adzick, MD: Because we don't want to intervene if the baby doesn't need it. And then we need to test the biology that this will really work clinically to make a difference.

Holly L. Hedrick, MD: Just getting a survivor isn't the goal here. We need to be sure that we're having fully functional good outcomes.

Stefanie Kasperski: I'm Stefanie Kasperski, I'm the genetic counselor.

Holly L. Hedrick, MD: The families will meet with a genetic counselor who goes through their family histories. They meet with an obstetrician who looks back through all of their OB records. And then we have a team meeting where the family sits down with the obstetrician, the pediatric surgeon and our nurse coordinator to go through all the studies that were performed that day and put them in the context of what it means for us and what options we may have to go forward.

Antoinette Spence, parent: They explained the test results to us, and they told us that Simone's case was not as severe as some of the other cases that they've seen because her liver was down and that meant that her lungs weren't as compressed as they could be.

Holly L. Hedrick, MD: It's important that we look carefully and that we figure it out. And that we give them accurate information so that they can make decisions from there.

Antoinette Spence, parent: We found out that she actually had an 80 percent chance here. So that was the first time we really felt some hope that our baby was going to survive.

Fetal Monitoring

Lori J. Howell, RN: The surveillance doesn't end after the evaluation with us at the center. It's important that it continues throughout the pregnancy and actually increased in the third trimester.

Anthony Spence, parent: We had to get into a routine of monitoring the pregnancy on a regular basis to make sure everything was progressing.

Antoinette Spence, parent: So we were coming in about once a month for that and then toward the end of the pregnancy, we came in every week.

N. Scott Adzick, MD: One of the things we've learned is that it's important to follow them for amniotic fluid volume, for instance, because they can develop polyhydramnios, or excessive amniotic fluid.

Mark P. Johnson, MD: If the stomach becomes kinked or partially obstructed, then the baby can't swallow and can't recycle its fluid. And so the fluid will accumulate and sometimes between 28 and 32 weeks you can develop severe polyhydramnios that places the pregnancies at risk for preterm delivery.

Holly L. Hedrick, MD: It's very important to know if there are other anomalies because that can change things for the baby with congenital diaphragmatic hernia.

N. Scott Adzick, MD: It's also important to follow the mothers and the fetuses closely if they're in the third trimester, because there is a rate as high as 5 percent of inexplicable third-trimester fetal demise. So we, on a regular basis beginning at about 32 weeks' gestation, do a comprehensive weekly or biweekly evaluations by non-stress testing and so on and so forth. We think that's important.

Delivery and After

Mark P. Johnson, MD: A lot of families ask us, "Am I going to have to have a c-section because my baby's going to be so ill?" And I think that, overall, vaginal delivery is preferable.

Natalie E. Rintoul, MD: Most infants with CDH will undergo a fairly routine labor. They'll be monitored typically, and most of them undergo a vaginal delivery.

Antoinette Spence, parent: We were surprised because we thought that it would be better for them just to get her out real fast and be able to do what they needed to do with her. But they actually told us that it would be better for her to be delivered naturally. So we did that, and she was born naturally.

Mark P. Johnson, MD: Many times what we will do is schedule an induction of labor, as long as the cervix is favorable. Such that everybody has a heads-up and is ready and waiting for the baby when it's born.

Holly L. Hedrick, MD: It's a big deal to coordinate everything. So it's important that obstetricians and the surgeons and the neonatologists and the ECMO team and the nursing staff know when that baby's coming, because we all want to be there, and we want to be ready.

N. Scott Adzick, MD: The fetus and the newborn with the severe diaphragmatic hernia problem is as fragile as any baby we take care of at The Children's Hospital of Philadelphia.

Julie S. Moldenhauer, MD: And one of the things that's important is to monitor labor progress and the status of the fetus in utero just prior to labor and be able to hand the neonatologist a baby who is an optimal condition for resuscitation.

N. Scott Adzick, MD: The issue is to minimize incremental risk factors that could lead to the baby dying. And one such resource, which is amazing, is the Special Delivery Unit, where all of the baby's care, all of the mother's care can occur in one place.

Holly L. Hedrick, MD: The Special Delivery Unit, or SDU, is a unit that was designed especially for a baby born with an anomaly, who's going to need an intervention shortly after birth.

N. Scott Adzick, MD: All of the baby's care, all of the mother's care can occur in one place with state-of-the-art resources, before birth, during birth and after birth.

Holly L. Hedrick, MD: So the baby with congenital diaphragmatic hernia, who needs expert multidisciplinary care from the first moment, is the perfect example of the type of pregnancy that we feel should be delivered in the SDU.

Antoinette Spence, parent: We weren't expecting her to cry. So she cried out and she looked — she opened her eyes and looked at us.

Anthony Spence: They let us say "hello" and whisked her into the next room to start taking care of her.

N. Scott Adzick, MD: The baby requires prompt intubation with an endotracheal tube, requires placement of a nasogastric tube, which decompresses what is often a dilated stomach.

Mark P. Johnson, MD: Remember, the stomach is in the chest. So, if the baby gulps air, the stomach expands, takes up even more space in the chest.

N. Scott Adzick, MD: Requires placement of intravenous lines, monitoring lines, usually an umbilical arterial line, for arterial blood pressure monitoring and for blood gases, all that needs to be done quickly and expertly.

Mark P. Johnson, MD: And then, once the baby is stabilized, they transport the baby over to the Neonatal Intensive Care Unit, where additional personnel from the team are ready and waiting for the baby to further evaluate the baby and decide what the best medical management is.

The First Days

Julie S. Moldenhauer, MD: Clearly, one of the benefits of the Special Delivery Unit is the proximity of the place of the actual birth to the neonatology teams.

Holly L. Hedrick, MD: Prior to the Special Delivery Unit, a baby would be born across the city, could be across the street, could be in a different town. And there were a lot of steps that had to happen to get the baby here.

Julie S. Moldenhauer, MD: And this would, of course, be very hectic for families. For dads and other family members, they would visit mom in one hospital and the baby in the other hospital. And, of course, very difficult for mom, who would physically be separated and unable to visit with her baby during this very trying time.

Lori J. Howell RN: The SDU was designed with the knowledge that NICU and cardiac ICU needed to be very close so that mothers could visit as frequently as they wanted or other family members and still receive the care that they needed from an obstetric point of view.

N. Scott Adzick, MD: So everything is really brought to the family, the mother in the Special Delivery Unit, the baby at the time of delivery, and then after birth, care in the NICU.

Holly L. Hedrick, MD: It really allows the family to be a family from the very beginning. And it allows us to take care of the baby from the very beginning to minimize transitions, to minimize changes, to minimize risks. And so I think it's been a great thing for both family and baby.

Natalie E. Rintoul, MD: We've created mechanical ventilation guidelines to gently ventilate these infants with small delicate lungs.

Holly L. Hedrick, MD: Gentle ventilation is a mode of ventilation, which just means that you don't use more than you need.

N. Scott Adzick, MD: One does not want to induce injury from the ventilation in these tiny diminutive lungs by breathing for them with too high pressures. That can cause damage and subsequent complications and even death.

Natalie E. Rintoul, MD: These infants, babies with CDH, are very unique. They are very delicate and their physiology is quite brittle. They can change from minute to minute, hour to hour.

Holly L. Hedrick, MD: In the acute period, or initially after the baby's born, they often can seem really, really stable. We call that the "honeymoon period," and it looks like things are great. And then they can start to have a spiral where just changing their diaper or having a loud noise in the room can actually make them desaturate or do something we call "shunt."

Natalie E. Rintoul, MD: They're not getting blood effectively from their heart into the pulmonary vascular system. It's bypassing the lungs entirely.

Holly L. Hedrick, MD: So, if we have to use high pressures, or worst still, have to be on high oxygen after a time period, then that's a baby that we need to give the lungs rest.

Natalie E. Rintoul, MD: If we have that situation, we have ECMO as an option.

Holly L. Hedrick, MD: Extracorporeal membrane oxygenation is really a bypass for the lungs. It does the work of the lungs when the lungs are very fragile and not able to do the work.

N. Scott Adzick, MD: That basically involves a surgical procedure in the intensive care nursery putting a cannula in the common carotid artery, a cannula in the internal jugular vein, the venous blood drains out into the ECMO machine, which has an oxygenator to oxygenate the blood and a pump that will pump the blood back to the baby through the arterial cannula.

Holly L. Hedrick, MD: So a baby on ECMO has a lot of equipment in the room. I think families are often a little taken aback, especially in the first day or two of life.

Antoinette Spence, parent: The first time I walked into the room when she was on ECMO, it was so hard. Because I looked, and she was, like, all the way down the hall and you just see this big machine and a little, tiny bed. And she was so small in comparison to all the machinery that was around her.

Holly L. Hedrick, MD: For a baby with a CDH on ECMO, that amount of time is on average a couple of weeks. It's longer than most of the neonatal problems that need ECMO. And it's very important that families realize that, you know, once we go on, we're usually there for a while.

It Takes a Team

Marcus Davey, PhD: The teamwork that goes into caring for diaphragmatic hernia babies involves a multitude of people.

Holly L. Hedrick, MD: In order to optimize how the baby does and what these parents are able to go home with, it requires a team like this.

Lori J. Howell, RN: To enable you to focus and concentrate on the needs of a baby with a diaphragmatic hernia.

Mark P. Johnson, MD: That takes a lot of communication.

Natalie E. Rintoul, MD: There's a lot of us on the team and communication is very important. We have an excellent set of core surgical nurses in the NIC.

N. Scott Adzick, MD: They have fantastic relationships with the families. They are there all the time to explain things. They are there to implement care. They are a crucial, crucial part of our neonatal surgical team.

Tracy M. Widmer, MS: I think of our role as being the key person to help facilitate that communication among the specialties.

Natalie E. Rintoul, MD: The care of these infants is incredibly complex, and they're often with us for weeks to months. There's a lot of stress on the family.

Lori J. Howell, RN: Our social worker knows exactly what goes on during that time period and can help lead a family through the ups and downs that might occur in the newborn ICU.

N. Scott Adzick, MD: Before, during and after birth, attention to detail for these critically ill diaphragmatic hernia babies is crucial.

Holly L. Hedrick, MD: Every detail does matter, and we know this because if one little things has a little bump, sometimes that's enough, with a very fragile CDH baby, to change the outcome.

Natalie E. Rintoul, MD: The rounds in the chop NIC are — they're notable. There's a lot of us at each infant's bedside.

Tracy M. Widmer, MS: Initially, parents get nervous that, "Oh, something's wrong here's all these people coming to my bedside." But it's just the group of us that are deciding what's in the baby's best interest and making the plan for the day.

Natalie E. Rintoul, MD: We have an open NIC, the families are welcome to be at the bedside 24 hours a day, seven days a week.

Holly L. Hedrick, MD: We involve them from the very beginning. We meet most of them very early on, and we develop a relationship. And that's very helpful because sometimes there are really tough decisions to make.

Anthony Spence, parent: They constantly educated us and checked in with us.

Antoinette Spence, parent: Talked to us and explained to us the procedure and then we made a decision together as far as what would be the best for Simone.

Mark P. Johnson, MD: We will make recommendations, but really it's the family who's in control. It's the family who calls the shots.

Natalie E. Rintoul, MD: So they're really a very big part of the team and they are involved in every decision, every step of the way.

Surgical Repair

Lori J. Howell, RN: Historically, when a baby was born with a diaphragmatic hernia, the important thing was to get them to the OR and get them repaired.

N. Scott Adzick, MD: Since that time we've learned that that's no longer required. You stabilize the baby first. You decompress the gastrointestinal tract with nasogastric tube. You bili light the baby. You take care of the various circulatory problems and try and get a stable baby that you can operate, almost in an elective circumstance.

The decision on when to do the operation to fix the diaphragmatic hernia depends, in large part, to how the baby responds to therapy.

Holly L. Hedrick, MD: In the best care scenario things are pretty settled down, and the baby actually doesn't have much trouble. We're able to wean the ventilator. We're able to wean drugs, and the baby is very stable. In that situation then we could undertake the repair of the diaphragmatic hernia as early as three days of life.

N. Scott Adzick, MD: Sometimes babies with diaphragmatic hernia who are severely affected are actually already on the ECMO machine, and then we have to decide, based on how the baby's doing, on the timing of when the operation is done, either during the ECMO run, which may be two weeks or more, or after the baby has been weaned off the ECMO circuit.

Holly L. Hedrick, MD: When the surgery is performed, we actually bring the whole team down to the neonatal intensive care unit. We actually turn it into an operating room.

N. Scott Adzick, MD: The anesthesiologists, the surgeons, the nurses, all the staff basically, it's like a — almost like a MASH unit that comes to the baby.

Holly L. Hedrick, MD: We do that because we think it's very important not to change things. The baby's stable and just a transport could make things different.

Anthony Spence, parent: It just shows that they're very, very careful, and they eliminate as much risk as they can.

Antoinette Spence, parent: They closed off the entire NICU to even other doctors and nurses that weren't taking care of other babies because they do it right there. They sterilize the whole environment, and the doctors do their surgery right on the same bed that she's laying on all the time.

Holly L. Hedrick, MD: The surgery involves an incision, usually just below the rib cage. The goals of the surgery are to take all the stuff that's up in the chest and bring it down into the belly and then to close that hole that's in the diaphragm.

N. Scott Adzick, MD: If there's a small hole with a rim of muscle all the way around, one can just simply close the hole by sewing the rim of muscle together. Those are usually much more favorable cases. For those babies with large defects, or who have complete lack of a diaphragm on that side, those are even more tricky, surgically, because one needs to place a patch, usually a Gore-Tex patch. A Gore-Tex patch used for repair of a large diaphragmatic defect is sewn to whatever tissue is there. There may be a rim of muscle, partially. It may need to be sewn to the rib. One thing we need to watch long term is, of course, the baby's going to grow. The patch is not going to grow so it's very important that these babies be followed long term so that we can see whether or not the patch will tear away from the body wall on the inside and lead to a recurrent hernia problem.

Holly L. Hedrick, MD: The one thing that we found is most important, though, is to be sure they're really stable enough to undergo the surgery because there's really no rush to get in there if they're not perfectly stable, because you can actually put them into one of those crises that we talked about.

What Lies Ahead

N. Scott Adzick, MD: Until about the late 1940s through the history of mankind, all babies with diaphragmatic hernia, or almost all, died. They died because it wasn't recognized fast enough and there was no means to repair it. Over the years, with better intensive care, better means of ventilation, the advent of extracorporeal membrane oxygenation, or ECMO, and prenatal diagnosis, the baby's chances, those with diaphragmatic hernia, have improved.

Holly L. Hedrick, MD: Once the baby's born, there's a wide range of possibilities in how they'll behave.

Natalie E. Rintoul, MD: Some don't even need mechanical ventilation for very long. And they have their repair. And they start to eat, and they go home, and they're fine. We have some infants who struggle, need mechanical ventilation for prolonged periods, may have pulmonary hypertensive crises and be on medications and ECMO. Those infants, sometimes, are with us for many months.

Antoinette Spence, parent: Simone was in the NICU for eight weeks from the time she was born.

Anthony Spence, parent: I was very thankful to Ronald McDonald house that we were able to stay there and within walking distance be able to get to Simone at any time.

N. Scott Adzick, MD: Every set of parents who are dealing with this want to know what the baby's chances are.

Holly L. Hedrick, MD: It's, overall, a 70 percent survival. A huge part of our program is aimed at making that number higher. A huge part of our program is aimed at making those that do survive great kids.

Long-term Follow-up

N. Scott Adzick, MD: The Pulmonary Hypoplasia Program, or PHP for short, is a multidisciplinary group that provides long-term follow-up and care for babies with conditions that cause small lungs. The best example are babies with diaphragmatic hernia.

Holly L. Hedrick, MD: The team includes neurodevelopmental assessments, pulmonary, cardiology, gastroenterology, surgical, and then the family functionings.

N. Scott Adzick, MD: All brought to the baby and the family in one location. So that's very important because many of these babies, we've learned, can have long-term issues that require that sort of comprehensive, systematic care.

Unknown Speaker: This area right here, you'll see it moves. That's where we're going to look and see if it leaks a little bit, because it's the one thing that allows us to check the pressure in the right heart.

Holly L. Hedrick, MD: I think it's very important to have the cardiologist involved from the get go. They assess the babies on a longitudinal basis, so from the time when they first come, and then, you know, again during their acute care, and then before they leave as a baseline and then also in follow-up. In days gone by we used to say, "If they survived, then they were pretty good." But now more and more babies are surviving because technology has increased and so there is a wider range of possibilities. And so we think it's very, very important to track that.

Unknown Speaker: Hi, sweet Emily. Has it really been a year?

Natalie E. Rintoul, MD: The specialists are the same as the acute care setting and so they know the infants really well. And what they can do is put everything together and summarize it and help the pediatrician or help the physicians that aren't CHOP based continue on with their care.

N. Scott Adzick, MD: There is a chance for a recurrence with a Gore-Tex patch in place so that needs to be followed. One needs to also follow chest wall development because that could be restricted by a patch. One needs to follow for the possible development of curvature of the spine, scoliosis — for pectus deformities, depression of the breastbone, things of that sort have been seen from time to time in children that have a Gore-Tex patch. It's clear that babies that have barely enough lung to survive and barely enough adequate pulmonary circulation to survive can have remarkable compensatory lung growth thereafter.

Mark P. Johnson, MD: Once the hernia is reduced, the space that's created in the chest allows the lungs to grow and develop. And our lungs can grow in childhood up to 8 or 9 years of age.

Holly L. Hedrick, MD: All those things go into what we can educate families about when they have this prenatal diagnosis. So we consider it a huge responsibility to figure it out.

Advancing the Field

Holly L. Hedrick, MD: The cause of CDH isn't really known. Few cases are actually genetic related and we know a few mutations that can cause — be associated with congenital diaphragmatic hernia. But the majority of the cases we see are actually what we call "sporadic."

N. Scott Adzick, MD: We don't know the cause. This is no one's fault. That hole in the diaphragm just forgot to close, and we have to deal with the consequences.

Holly L. Hedrick, MD: Most cases don't tend to run in families. Most people won't be able to say that, you know, cousin Jimmy or uncle Joe had this. It's usually, in most of the families we meet, it's the first time they've ever heard of it.

N. Scott Adzick, MD: It's an extremely frustrating clinical diagnosis. We have made progress. It's the sort of thing that you sort of slog away at. Little incremental changes can have an impact.

Mark P. Johnson, MD: And over time, little steps create big steps that create giant steps.

Holly L. Hedrick, MD: The commitment to delving deeper happens at every level.

Lori J. Howell, RN: The answers to how we care for diaphragmatic hernias are going to come from our laboratory and our clinical experience.

N. Scott Adzick, MD: There's this ping-pong game between the clinic and the research laboratory, between the laboratory bench and the bedside.

Holly L. Hedrick, MD: One depends on the other to actually advance what we do.

Marcus Davey, PhD: Rather than going and fixing the hole in the diaphragm, what we really need to focus our research on is trying to make the lungs grow so that when the baby is born, there's sufficient lung size in order to exchange respiratory gases.

Holly L. Hedrick, MD: The collaboration between surgery and research is part of that responsibility to push things forward.

N. Scott Adzick, MD: We have an obligation to do research. We have an obligation to educate.

Holly L. Hedrick, MD: There's an ongoing commitment to take what we've learned.

Natalie E. Rintoul, MD: And speak to our colleagues in the field, at other centers, in other countries.

Lori J. Howell, RN: So that you're able to further the work that's being done on birth defects and getting answers.

N. Scott Adzick, MD: We're totally devoted to caring for these children.

Lori J. Howell, RN: When you're able to focus all your energy, all your effort, all your team on dealing with birth defects and you have the significant volume of babies with birth defects, you are able to change the world. You're able to change the face of birth defects.

Anthony Spence, parent: Simone is 10 months now.

Antoinette Spence, parent: She's doing really well. She's extremely active, and she's moving all around and grabbing things and pulling up and trying to crawl.

Anthony Spence: It seems like there's something new every day, something that she wasn't doing the day before, and I'm just amazed. People say to us, "I can't believe that she went through all of this. Look at her. She's like 100 percent healthy."

Fetal Surgery for Congenital Diaphragmatic Hernia

Julie Moldenhauer, MD: Congenital diaphragmatic hernia is a very severe birth defect in which there is a hole in the forming diaphragm. And that then allows the contents of the abdomen, like the bowel and the stomach, and even the liver sometimes, to come up into the chest.

Susan Spinner, MSN, RN: This causes lack of space above the diaphragm and the lungs and the heart actually get pushed to the side. So there’s no room for the lungs to grow.

Holly Hedrick, MD: FETO stands for Fetoscopic Endoluminal Tracheal Occlusion, F-E-T-O. This is a study that we’re currently performing at The Children’s Hospital of Philadelphia. It’s a feasibility study, which means that we want to see if we can perform it successfully and safely in mothers who are carrying fetuses with congenital diaphragmatic hernia.

The idea behind it is that a balloon is inserted into the airway to occlude the airway.

Susan Spinner, MSN, RN: That prevents lung fluid from escaping the lungs.

Holly Hedrick, MD: Which will cause a buildup of pressure.

N. Scott Adzick, MD, MMM: And that pressure that’s established is like a stinting force that distends the lung.

Susan Spinner, MSN, RN: That increases the number of air sacks, or alveoli, and also increases the surface area or makes the alveoli bigger.

Holly Hedrick, MD: Once they’re large, we actually remove that balloon so that they can go through the normal course of maturation. The FETO study will start off with an evaluation that is standard of care for any baby with a congenital diaphragmatic hernia.

Susan Spinner, MSN, RN: There would be a detailed telephone call in which we would gain their history information and the baby’s anatomical defect information. We would bring them into our center and they would have a comprehensive, one-day evaluation.

Lori J. Howell RN: The high resolution ultrasound. They would have the ultra-fast fetal MRI. Then they would have a fetal echocardiogram. And then they would meet with the high-risk obstetricians as well as the pediatric surgeons, neonatologist, social worker, genetic counselor, and essentially all the key members of our team.

Susan Spinner, MSN, RN: During the initial evaluation, it will be determined whether the mother and the fetus are eligible for the study, depending on certain anatomic criteria in the fetus and certain maternal factors in mom’s health history. That along with the associated potential risks for mom and for the baby will be detailed and discussed at the counseling session.

Holly Hedrick, MD: If all criteria are met, then there’s a chance that the mom would be offered this procedure.

N. Scott Adzick, MD, MMM: Those who are candidates and choose to go forward with this, it is a commitment. It’s an operation under a local anesthesia, or sedation at 20-30 weeks’ gestation.

Holly Hedrick, MD: It’s preformed in much the same way as other fetoscopic procedures. A small incision is made in the uterus, under ultrasound guidance. And then a trocar is placed so that it can line up with the fetal mouth.

A fetal bronchoscope is passed through this trocar and then into the baby’s airway. And then under direct vision, we actually blow up the balloon, and then detach it and leave it in place.

Julie Moldenhauer, MD: Moms stay in the Philadelphia area for a good three to four weeks afterwards so that we can prepare her for the balloon retrieval.

Holly Hedrick, MD: We need to follow really closely to watch how the lungs grow. To watch for any potential complications to make sure that the balloon remains in place. And then towards the end of gestation, around 34 weeks, we would like to remove the balloon.

Now there’s a couple of ways to do this. The first and the easiest way would be if we could puncture with a needle and then because the pressure behind it is stronger, have it just come out of the fetal mouth. And that would be attempted.

If that’s not successful, if we can’t just puncture it, the next step would actually to be to repeat the procedure that was performed before. Again another small incision after lining it up where the fetal mouth will be. And then passing a fetal bronchoscope into the airway. And this time it’s loaded with a grasper in order to pull that balloon out.

Susan Spinner, MSN, RN: Families would be required to deliver at the Special Delivery Unit at CHOP so that there would be the multi-disciplinary resources there to take care of mom and the baby when the baby is born.

Holly Hedrick, MD: The baby’s immediately intubated. The baby is immediately on a ventilator, and then we go through the course of things as usual. We’re trying to wean the ventilator. We’re trying to wean support and get the baby ready for surgery. All the babies will still need to have their diaphragmatic hernias repaired at some point when they’re stable.

Julie Moldenhauer, MD: Parents should anticipate that they will have a stay in the NICU that should be, you know, in the order of weeks if not months. We hope the tracheal occlusion will help to minimize some of these concerns that these neonates have right off the bat, but we are fully prepared that they are going to follow a course very similar to what a typical newborn with congenital diaphragmatic hernia faces.

N. Scott Adzick, MD, MMM: In addition, we would anticipate a commitment long term, or for of course those babies who survived, to be followed by us with the standard of care protocol we have that goes all the way through the Pulmonary Hypoplasia Program, which is that multi-disciplinary group that’s focused on children with diaphragmatic hernia problem and all the issues that they may have.

Holly Hedrick, MD: To see how they perform both neuro-developmentally and from a cardiopulmonary standpoint. And these visits will be scheduled at 6 months, 12 months and 2 years.

Julie Moldenhauer, MD: So our goal when families come to us for evaluation and consultation is that we provide them with enough information to decide what they think is the best course for their family and for their baby. And whether this is participation in the FETO Trial, or a typical postnatal repair, we hope that we provide enough information for the family that they are making the best decision for them.

Topics Covered: Congenital Diaphragmatic Hernia (CDH)

Related Centers and Programs: Center for Fetal Diagnosis and Treatment