Breathing Easier: Fetal Lung Anomalies

In this video series, parents Adam and Naomi discuss how they felt after an ultrasound revealed their unborn child had a lung lesion. Doctors and nurses from the Richard D. Wood Jr. Center for Fetal Diagnosis and Treatment describe different fetal lung anomalies, such as congenital cystic adenomatoid malformation (CCAM) and bronchopulmonary sequestration (BPS), and the treatment options available.


Introduction: Lung Lesions

Adam Shapiro, Parent: At about 20 weeks we went in for, what we thought, was going to be a normal ultrasound and found out that we had a lung lesion and we needed to deal with it.

Naomi Shapiro, Parent: You know, when you find out that you have a problem and you're 20 weeks pregnant, you're only halfway through the pregnancy, and you still have 20 weeks left to go. And so you have 20 weeks of worry, 20 weeks of tests, and 20 weeks to make sure that you're going to end up with a healthy baby. And that just seems like a lifetime.

Lori J. Howell, RN: For families like Naomi's, finding out that you're pregnant with a fetus with a lung lesion can be devastating. For us, we see it frequently every day.

Adam Shapiro: Our physician, as good as she was at identifying what it was, had seen one or two in her lifetime.

Alan W. Flake, MD: You have to understand that these tumors are extremely rare.

N. Scott Adzick, MD: For an obstetrician, say, in the community, he or she may see one case of fetal lung lesion in their professional life.

Naomi Shapiro: Every year we meet people that were told that their baby would never have a normal life and that they should terminate the pregnancy.

N. Scott Adzick, MD: There's a lot of misinformation out there.

Alan W. Flake, MD: We have many patients that have had termination recommended when, in reality, we would have an optimistic viewpoint for that particular tumor.

Adam Shapiro: You get diagnosed with a CCAM, you clearly feel like — okay, I'm pretty unlucky. But let me tell you, we were among the lucky. We have a child who's leading a normal life.

Lori J. Howell, RN: This is really a serious diagnosis, and we take it very seriously. But today the vast majority of these stories have happy endings.

Naomi Shapiro: At the end of the day, they were right. And we had surgery, and we have — we have a wonderfully healthy child.

Adam Shapiro: She's beautiful. She runs. She screams. She uses those lungs. And she's got a whole life in front of her.

Lori J. Howell, RN: Our goal at the Center is to be able to give families and physicians a better sense of a particular fetus's problem and how best to manage it.

Jan: Hi, this is Jan calling from Children's Hospital. Fine. How are you doing? That's good. That's good. I need to get some information from you so we can get you —

Lori J. Howell, RN: When you come here, you're going to know that we have treated hundreds of mothers with fetal lung problems. You're going to know how to manage the pregnancy from this point forward. And when you leave here, you will be completely reassured as to what the pregnancy problem is and that you know how to handle it.

Fetal Lung Abnormalities

Jacqueline Padua, Parent:  When I was around 17 weeks, I had my first ultrasound. Everything was normal. Then about two weeks later I started having contractions. So they decided to have me come in for an ultrasound, an echo ultrasound. And there was where they diagnosed me with — the baby having a lung tumor.

N. Scott Adzick, MD:  Well, when you look at how to define lung lesions there are three basic categories. One is the most common, congenital cystic adenomatoid malformation of the lung (CCAM for short because it's a mouthful). That's a benign lesion. No one knows the cause. It's not inherited. It's a lump in the chest. Those that have a large cyst are called macrocystic lesions, macrocystic CCAM's. Those with small cysts that appear solid by ultrasound are called my microcystic lesions.

Alan W. Flake, MD:  The way we treat CCAMs really depends on how they present, and it's a disease with a very broad spectrum of presentations. It can present as a very small mass in the fetus or it can present as a very large mass that causes significant problems for the fetus.

N. Scott Adzick, MD:  Management and prognosis for the baby reflects largely how big the lump is.

Jacqueline Padua, Parent:  The doctor tells me that the baby has a small lesion in his lung and that he's really not that concerned about it. So it was a big relief to know that my baby was going to be OK and that it wasn't really a big deal, at least at that moment.

N. Scott Adzick, MD:  The second category is pulmonary sequestration, also known as bronchopulmonary sequestration, BPS. That's like an extra piece of lung that doesn't function, takes up space. We can make that diagnosis before birth by color flow doppler ultrasound that shows an arterial blood vessel that feeds the mass that comes off the aorta. You make that diagnosis. You know it's a sequestration.

Mark P. Johnson, MD:  Some of them are large enough that we need to get a feel for what their growth pattern is.

R. Douglas Wilson, MD:  Depending on the size and the position in the chest, it will push vital organs, either the heart or the lung, and therefore cause squeezing and compression.

N. Scott Adzick, MD:  The third category is a blend of the first two. It's a hybrid lesion, a CCAM and a sequestration. That's where you have the sonographic finding of the arterial blood vessel as well as the histologic finding of cysts within the lesion.

Lori J. Howell, RN:  Whatever type of fetal lung problem your baby has, we're going to be able to diagnose that and let you know which problem it is and then how best to handle it.

Diagnosing the Lung Lesion

Lori J. Howell, RN:  We offer focused, comprehensive evaluation that can all be performed in one day. So that when you leave here you have the answer. You know what you're dealing with, and you can move on with the pregnancy. The three tests that families will have when they come here is an ultra-fast fetal MRI, which is done under a rapid sequencing technique in which we don't have to sedate the mom or give a muscle relaxant to the fetus. The next test that they have is a high-resolution ultrasound which can last any where from an hour and more, which gives us very, very good anatomic detail as to what type of lung lesion we're dealing with. And then lastly is a fetal echocardiogram, which is essentially an ultrasound but just performed at the fetal heart and performed by a fetal cardiologist.

Evaluation & Treatment Options

Lori J. Howell, RN:  It's important that we, "nail the diagnosis." We need to be very sure that we know what we're dealing with to be able to correctly counsel you.

Alan W. Flake, MD:  It's really the size, the volume of the mass, relative to the size of the fetus, that places the fetus in a particular category of risk.

Jane Wright, RN:  And these measurements here will give us an estimated fetal weight of this baby, so that's one of the things —

N. Scott Adzick, MD:  We have ways to measure the size, particularly on sonography, by doing a volume calculation.

Alan W. Flake, MD:  The CCAM volume ratio; it's basically the volume of the tumor over the head circumference of the fetus.

N. Scott Adzick, MD:  We want to know the size of the lump in relation to the rapidly growing fetus and with that we can give prognostic information to the family.

Unknown Speaker 2:  So this is the right lung and this is the left lung way up there by the apex of the chest, the heart there.

Lori J. Howell, RN:  You're going to know exactly what you're dealing with in terms of the fetal lung problem at the end of the day, at the end of your evaluation. Once you undergo all these tests, we'll sit down in our multidisciplinary group which is usually the pediatric surgeon, the high-risk obstetrician, the genetic counselor, an advanced practice nurse, perhaps a social worker, and we're going to go through each one of those tests with you, what it means. And then we're going to outline what the options are for the pregnancy depending upon the results of all those tests.

Treatment for Lung Lesions

Holly L. Hedrick, MD: Most of the time we can deliver great news. And most of the time there's a great outcome.

Alan W. Flake, MD:  The babies are usually born asymptomatic. They go home normally with the family, have a little time to bond with the parents, etc., and then they come back at about a month of age and have the tumor removed.

Parent, Dad:  In our case we were fortunate. Our child came out with no symptoms at all at birth.

Here we are. It's good morning to Eliana. "Good morning. You give me a little smile?"

And we were able to take her home from the hospital. As a matter of fact, the baby was ready to go home before mom was. And then eight weeks later when she had her surgery, she was out of the hospital in a matter of three or four days.

Parent, Mom: But our baby looked great, you know. She really did for someone who had gone through chest surgery with a chest tube. She came out and she was fine.

Stefanie Kasperski, MS: Lung lesions are not associated with other birth defects. They're not associated with chromosomal abnormalities, and they also tend to be not hereditary.

Holly L. Hedrick, MD: So the great majority of cases are going to be handled postnatally. There are very few cases where the mass has continued to grow in size or is large enough that we think the baby will be compromised at birth.

Fetal Surgery for Lung Lesions

Mark P. Johnson, MD: For the types of CCAMs that have a large single or complex cyst, you can treat them by placing a shunt. And that can be done by using a needle system, where the needle is inserted under ultrasound guidance into the baby's chest, directed into the large cyst, and then a small plastic catheter called a "rocket double pigtail" shunt can be placed into that cyst, and then through the chest wall into the amniotic cavity.

N. Scott Adzick, MD: One end of the pigtail goes into the cyst. The main part of the catheter goes through the baby's chest wall, and the other pigtail curls up in the amniotic fluid space, such that the fluid within one or two of these very large cysts is decompressed into the fluid so the huge mass then shrinks.

Mark P. Johnson, MD: The problem with the lung masses is that they're a space-occupying lesion and the larger the volume of the lesion within the chest, the more problems it can cause.

Alan W. Flake, MD: We only counsel patients about fetal intervention if the tumors are at high risk for causing hydrops.

N. Scott Adzick, MD: The medical term for heart failure in a fetus is "fetal hydrops." And what we usually see initially in those cases is the accumulation of fluid in the body cavities of the fetus. One of the treatment options for the mom carrying a fetus with a large lung lesion with associated fetal heart failure, or fetal hydrops, is to remove the lesion before birth.

Alan W. Flake, MD: You have to open the mother. You have to open the uterus. You have to position the baby, open the baby's chest, and take the tumor out.

N. Scott Adzick, MD: That involves making a cut, a sideways cut in the chest, spreading the ribs, delivering the mass, which usually arises from one lobe. We remove that lobe, spare the normal lung tissue, which is small and has been squished, and then close the chest, close the uterus, close the mom, with an absorbable stitch that will dissolve once she's healed. It's an operation not only for the fetus who has everything to gain, but also for the mother, who's sort of, medically, an innocent bystander. The final scenario, as far as treatment goes, are those fetuses with very large lesions, latent gestation, may have already received a shunt but the lesion still remains very large, and we're worried that we won't be able to ventilate the baby after birth because the mass is so big.

Toni Drill, Parent: For my son the surgery that would give him the best chance of survival was what's called an "EXIT procedure."

Holly L. Hedrick, MD: An EXIT procedure is a lot more than a c-section. We don't want to confuse the two at all. It is an abdominal incision on the mom. Mama's asleep, but unlike a c-section where we're trying to get the baby out quickly and have the uterus contract back down very quickly, we want the uterus to stay relaxed. And we want placental circulation to stay intact. We want there to be gas exchange between the mom and the baby in order to protect the baby.

Mark P. Johnson, MD: By doing it that way, the baby is essentially on bypass. Mom continues to do all the work, provide the baby with oxygen.

Holly L. Hedrick, MD: Once the mass is removed and the baby is adequately resuscitated, we can start ventilating, which changes all the dynamics of how the placental blood flow works. And then we can officially deliver the baby.

Toni Drill, Parent: You think to yourself, "Wow, he survived that. I survived that, and look at him. He's running around. He's playing on the beach. He's playing with his siblings, and he's no different than they are."

Birth Method

Alan W. Flake, MD:  The site of delivery on these tumors really again depends on how they behave in utero.

R. Douglas Wilson, MD:  Sometimes they'll grow very rapidly and be very enlarged and cause displacement of the heart and compression of the lungs. But the natural history of them is that they will eventually stop growing and that they'll eventually start to decrease in size.

Mark P. Johnson, MD:  Most of the time these babies can be delivered vaginally.

Alan W. Flake, MD:  We'll often tell the mothers to deliver at the site they originally planned. So a hospital near home with a reasonable nursery.

Choosing a Specialized Center

Mark P. Johnson, MD:  Depending on the size of the mass, if it's sizable and it may cause some breathing issues for the baby, then those babies can be delivered at a high-risk center where there's newborn support services and pediatric surgeons available.

Unknown Speaker 1:  This is the CCAM here. You can see it a little bit better on this one, but it's — this lung volume see is a little bit smaller than the opposite one —

N. Scott Adzick, MD:  Our team provides advice to medical practitioners, to doctors, obstetricians, family practitioners, genetic counselors on a daily basis.

Mark P. Johnson, MD:  We educate the family, educate the referring physician, and then work as a team to really optimize management.

Alan W. Flake, MD:  To achieve survival in some of the babies or to avoid major morbidity in some of the babies, you really need to know about it early, to follow it closely, and to know how to handle it appropriately.

Lori J. Howell, RN:  Our job is really to work in concert with the referring physician.

Mark P. Johnson, MD:  It's such an experienced multidisciplinary center.

Lori J. Howell, RN:  We have all the specialists under one roof and that includes the high-risk obstetricians working hand-in-hand with the pediatric surgeons.

Mark P. Johnson, MD:  Advanced-practice nurses —

Holly L. Hedrick, MD:  Radiologists —

N. Scott Adzick, MD:  A coordinator —

Mark P. Johnson, MD:  Genetic counselors —

Lori J. Howell, RN:  Anesthesiologists —

R. Douglas Wilson, MD:  Neonatologists —

Holly L. Hedrick, MD:  Cardiologists, who review the cardiograms — and, for any given patient, you may be calling up another specialist.

Mark P. Johnson, MD:  Experts in different techniques — pulmonologists, orthopedists, orthopedic surgeons, anything you can think of in the range of a subspecialty.

Lori J. Howell, RN:  And we're fortunate here to have a newborn ICU in which the advanced specialists can be brought to bear to take care of your child in the best possible way after the baby's born.

After Birth: What's Next?

Jacqueline Padua, Parent:  They say, "If these things are not taken care of early in life, they may turn cancerous or they may have other problems." So I was a little concerned. Not that I wanted her to have the surgery, but I was concerned that later on that something was going to happen. And I was thinking, maybe if I go, they'll tell me she doesn't need the surgery anymore.

Alan W. Flake, MD:  In babies that are asymptomatic, we typically have them return to CHOP at 1 or 2 months of age and have a CT scan. That gives us better anatomic resolution of the CCAM and we go ahead and schedule surgery from there. It's always difficult for parents, after they've had a baby at home for a month or two that acts like a perfectly normal baby, to submit the baby for, you know, a major operation. We like to perform surgery relatively early to avoid any of the complications that can occur with CCAM if it's left intact.

Jacqueline Padua, Parent:  So I did come, and they said, "Of course, she needed to have the surgery." To see her developing the way she is — it's just amazing to see how good she's doing.

After Lung Surgery & Beyond

N. Scott Adzick, MD:  Hello, cutie pie. Come here, come here. Isn't she precious?

Holly L. Hedrick, MD:  The majority of patients are going to come back in the first month after surgery. They typically get a physical examination, and may or may not get a chest X-ray. And then we would have them comeback at usually at 6 months to a year.

N. Scott Adzick, MD:  Oh, what a good looking kid.

Alan W. Flake, MD:  One of the nice things about operating on CCAM is that you are operating on a baby that has tremendous recuperative powers and regenerative powers.

N. Scott Adzick, MD:  You get compensatory lung growth up until about age 6 to 8.

Alan W. Flake, MD:  So if you take out one of the lobes, the other lobes on that side of the chest will grow in a compensatory way and actually fill the chest and you end up with two really normal-size lungs.

Parent, Dad:  The children — they recover so much faster than the parents do.

Parent, Mom:  You look at Ellie today. She's going to be 3 years old. And the care and the love and support she had here was unmatched. Not from us but from the doctors and the nurses around. And so, yeah, we feel incredibly blessed and incredibly lucky for every day we look at her and every day that we know we came here and she's OK.

Topics Covered: CCAM/CPAM: Congenital Cystic Adenomatoid Malformation (Pulmonary Airway Malformation), Fetal Lung Lesions, Bronchopulmonary Sequestration (BPS), Hybrid Lesions, Fetal Pleural Effusion, Congenital High Airway Obstruction Syndrome (CHAOS), Bronchogenic Cyst, Congenital Lobar Emphysema (CLE)

Related Centers and Programs: Richard D. Wood Jr. Center for Fetal Diagnosis and Treatment