Every year, 1,500 babies in the United States are born with a birth defect called spina bifida; their spinal columns don't close while they are developing in the womb.
For the past decade, some highly specialized medical centers across the U.S. have performed fetal surgery on spina bifida babies, stitching up their spines while they are still in the womb. A new study shows experts continue to improve the technique, giving babies the very best chance at a strong start.
Little Brayden Ellis has a smile that warms your heart.
"He is happy, he is content. He is just happy to be here." Brayden's mother, Bridget Ellis, told Ivanhoe.
Halfway through Bridget's pregnancy, doctors told her-her baby had spina bifida; a birth defect that can cause permanent neurological damage. The Ellis's opted for cutting-edge surgery before Brayden was born.
"We knew in our hearts that it was the right decision to make," said Ellis.
During fetal surgery, doctors make an incision in a mother's abdomen, and expose the baby's spine.
"The goal is to be able to seal the spina bifida lesion before birth to protect the delicate spinal cord from the amniotic fluid," N. Scott Adzick, MD, surgeon-in-chief of the Children's Hospital of Philadelphia told Ivanhoe.
Doctors then seal the uterus and mother's abdomen to allow the baby more time to develop.
C.H.O.P. researchers studied the results of one hundred fetal surgeries from 2011 to March of 2014 and found in 71-percent of the babies, surgery completely reversed a life-threatening complication, called hindbrain herniation, which causes fluid build-up on the brain.
"It's really in a way, a new standard of care option for families," Dr. Adzick said.
For the Ellis family, it means celebrating Brayden's milestones and waiting for his first step.
Bridget Ellis said, "It's an amazing miracle that we never knew was possible."
The new children's Hospital of Philadelphia study also found the fetal surgeries were much shorter in duration than those studied in an earlier national trial. Mothers were also less likely to require a blood transfusion at time of C-section delivery.
BACKGROUND: Spina bifida is part of a group of birth defects, called neural tube defects (NTD). Normally the neural tube forms in early pregnancy and closes around the 28th day after conception. In spina bifida, the neural tube fails to form completely, causing defects in the spine and spinal cord. Spina bifida ranges from mild to severe depending on the size and location of the opening in the spine, and whether the spinal cord or nerves are affected. There are three common forms of spina bifida. Spina bifida occulta, which is the mildest form, results in a small gap in one or more of the vertebrae of the spine, and nerves are not usually affected. Meningocele is rare, and occurs when the protective membranes around the spinal cord push out through the opening in the vertebrae. The spinal cord still develops normally, and these membranes can be removed by surgery with little or no damage to nerve pathways. Myelomeningocele, or open spina bifida, is the most severe form, and is described as an opening baby's spinal canal along several vertebrae in the lower or middle back. Because of this opening, both the membranes and the spinal cord protrude at birth, forming a sac on the baby's back.
(Source: http://www.mayoclinic.org/diseases-conditions/spina-bifida, http://www.cdc.gov/ncbddd/spinabifida)
TREATMENT: Spina bifida does not have an official known cause, however many doctors say that a folic acid deficiency during pregnancy could be a main contributor. Taking folic acid during the first trimester of pregnancy is considered a preventative treatment, especially if spina bifida runs in the family health history. Folic acid is found in many foods; however the supplement in pill form is better absorbed in the body. Myelomeningocele is usually treated within the first three days of birth through an operation, which saves the spinal cord from more damage. Meningocele is also treated with surgery, and followed closely by a doctor to help avoid other serious problems. During surgery, a neurosurgeon places the exposed tissue and spinal cord inside the baby's body and covers them with muscle and skin. A shunt may sometimes be used to control hydrocephalus in the baby's brain is placed during the operation on the spinal cord
(Source: http://www.spinabifidaassociation.org)
NEW STANDARD OF CARE: Specialists at the Children's Hospital of Philadelphia (CHOP), in the Center for Fetal Diagnosis and Treatment, have built upon the success of a previous trial in treating spina bifida: Management of Myelomeningocele Study (MOMS), which helped experts develop guidelines for optimal care of fetal surgeries. The current study, "shows that an experienced program can achieve comparable results, and that we can modify techniques to improve on the trial outcomes," said Julie S. Moldenhauer, M.D., lead author of the study. As compared to the MOMS trial, the trial showed a decrease in average operating times, decrease in pulmonary edema, decrease in transfusion rate at time of cesarean delivery and also a decrease in the incidence of preterm premature rupture of membranes. N. Scott Adzick, M.D., Surgeon-in-Chief at CHOP and Director of the Center for Fetal Diagnosis and Treatment said, "Establishing fetal surgery for spina bifida as a standard of care option was one of the most exciting developments," and he hopes that continued collaboration among all centers performing prenatal repair continue to optimize patient safety and outcomes.
N. Scott Adzick, M.D., Surgeon-in-Chief at the Children's Hospital in Philadelphia and the C. Everett Koop Professor of Pediatric Surgery at CHOP, discusses a delicate surgery to help save babies spinal cords in the womb.
Interview conducted by Ivanhoe Broadcast News in September 2014.
I want to ask you first of all for our viewers who are not familiar when you say fetal surgery. What is it you're talking about?
Dr. Adzick: Fetal surgery involves operating on the baby before the baby is born when they are still inside their mom. We only do this for life-threatening or devastating birth defects that have a progressive negative effect on the baby's development before birth. That's the only sort of circumstance where it makes sense to take the risk and to take the steps to fix something before birth.
What are some of the circumstances?
Dr. Adzick: Well, there's a whole list of life-threatening problems, urinary tract obstruction can destroy the developing kidneys and lungs. Large tumors can grow in the lungs that cause heart failure and impair normal lung growth. Large tumors can grow from the tailbone and cause heart failure. There are also conditions like twin-twin transfusion syndrome where there are two twins, with separate sacs but only one placenta, and abnormal circulation makes one twin go into heart failure and the other go into kidney failure. We can, in selective circumstances, treat cases such as this with surgery before birth.
Are these still considered experimental cases for the most part?
Dr. Adzick: Well for the life-threatening problems that I've mentioned, I think this is pretty much standard of care because, after many years of research, we can now select patients who will benefit and are able to explain the risks to the mother. Then of course there's spina bifida, a devastating birth defect that's usually not truly life-threatening. Fetal surgery for spina bifida is the most common open fetal surgery operation we perform. Spina bifida is when normal tissues don't develop around the spinal cord, and as a result, the spinal cord is exposed and is progressively damaged before birth, leading to impairment in leg function and also hydrocephalus, fluid on the brain that can affect brain development and intelligence and require a shunt tube to be placed after birth to drain the excess fluid away from the pressure.
Describe to me if you would about performing fetal surgery specifically on a spina bifida baby.
Dr. Adzick: Open fetal surgery for spina bifida refers to when we open up the mother and don't do it through a scope. That involves a mother going to sleep under general anesthesia which also anesthetizes the fetus. The operation is usually done between 20 and 25 weeks gestational age, halfway through the pregnancy since full-term is 37 to 40 weeks or so. The fetus is probably about as big as my hand here at most. Deep general anesthesia relaxes the uterus so it doesn't contract and we do a caesarian section type approach to expose the uterus. Our team helped invent the uterine stapling device that puts staples in so we open the uterus bloodlessly and keep the membranes tacked up to the muscle layer of the uterus. The spina bifida lesion is exposed so we only see that, we only see the baby's back, we don't see the hair, we don't see eye color, and we just see the back. The baby gets an additional shot of anesthetic intramuscularly and then the pediatric neurosurgeon joins our team and we close the back to protect the developing spinal tissue to prevent ongoing ravaging effects of nerve damage caused by the amniotic fluid around the baby. Amniotic fluid is fetal urine. Closing the back also stops the cerebrospinal fluid from leaking out of the baby's back and stops the cascade of events that leads to hydrocephalus. Hopefully the baby won't need a shunt tube after birth.
You had studied this in the MOMS trial. Can you tell me a little bit about that trial and what the results were?
Dr. Adzick: The Management of Myelomeningocele Study (MOMS trial) was a randomized prospective clinical trial comparing fetal surgery for spina bifida in one group and conventional post-natal surgery in the other group; a head-to-head comparison between those two groups. It was done at The Children's Hospital of Philadelphia, Vanderbilt University and the University of California, San Francisco. A mother carrying a baby with spina bifida, who met the inclusion criteria to be in the trial, could be randomized to fetal surgery or conventional care. That direct comparison showed that the fetal surgery group did better in almost every way. Specifically, the fetal surgery group had improved nerve and leg function, improved ability to walk, and decreased need for a shunt tube to drain hydrocephalus.
That really showed the benefits of the fetal surgery rather than waiting until after?
Dr. Adzick: It definitively showed the benefits of the fetal surgery in this most rigorous test. The randomized prospective trial compared the then experimental therapy, fetal surgery, to conventional therapy, and showed that in the properly selected patients, who also want to have the fetal surgery, that this is no longer experimental and really a standard of care option for families.
How many of these surgeries for the fetal surgery spina bifida are performed in the US every year? Do you know how many you do here or how many centers are?
Dr. Adzick: Well let's think about the problem first. About 1,500 babies are born with spina bifida a year just in the U.S. - that's about 30 a week, about five a day. For operations before birth there are a handful of centers in the U.S., but we're actually the most operations. Over the three years since the mom's trial stopped, we've done well over 100 of these operations, almost one a week currently.
What's on the horizon for this particular surgery for spina bifida?
Dr. Adzick: Well right now it's a big operation with risk of premature labor and premature birth. These babies, on average, are born about three weeks premature. The other risk is the cut in the uterus; it's high on the uterus, so the mother needs to have a caesarian section for the fetal surgery pregnancy and for all subsequent pregnancies. We and others are working in the laboratory on ways that we can provide this therapy in a minimally invasive way. The goal is to be able to seal the spina bifida lesion before birth to protect the delicate spinal cord from the ravages of amniotic fluid exposure and to prevent the cerebrospinal fluid leak out through the spina bifida. Although I don't know exactly when we will do, because it is not ready for clinical application yet, I envision a time in the future when this is a treatment option. You could do it under ultrasound guidance, using an amniocentesis needle to inject tissue engineered components to seal the lesion before birth and then you would do the final repair after birth. Another option would be to use a scope to visualize the lesion and then do an injection of those tissue engineered components to seal things. That's on the horizon but it's hard to know how far away on the horizon.
One more question about spina bifida and that quality of life is obviously improved.
Dr. Adzick: It is incredibly gratifying to have such a dramatic impact on these patient's lives. Fetal surgery for spina bifida is not a cure; children still have spina bifida and need to be followed by a multidisciplinary spina bifida clinic. We also have to keep our guard up a little bit to make sure that the favorable results are durable long term. But they appear to be thus far. Each year in June we have a fetal surgery family reunion where patients from all over the country come back with their families for a day of celebration. In the last 20 years, our Center at The Children's Hospital of Philadelphia has had more than 16,000 referrals of mothers carrying babies with various birth defects. This past June there were 1,700 people here for this big party. There were families there, and there were fire engines and cotton candy, and we spoiled the kids. It's fun!
A question about CDH, is that something that's close on the horizon?
Dr. Adzick: The problem with congenital diaphragmatic hernia (CDH) is a hole in the diaphragm that permits the abdominal viscera to go up into the chest and the compressed lungs cannot develop properly. We can select prognostic factors based on ultrasound imaging and fetal MRI imaging to categorize how severely affected the lungs are; how small the lungs are and predict how much difficulty the babies are going to have with breathing after birth. Soon we will have one new way to treat severely affected CDH babies before birth. The fetal lung makes fluid under positive pressure that lung fluid flows out through the windpipe out into the amniotic fluid to join the fetal urine there. If you occlude the egress of that fluid such as with an occlusive balloon, the lungs distend with that fluid and the stretch induces lung growth. Our team is currently working to gain FDA approval to perform this fetoscopic approach.
Anything I did not ask you that you want people to know about fetal surgery on the whole?
Dr. Adzick: There's not a lot of immediate gratification for this sort of work, you've got to wait for the kid to be born and see how the kid is doing. This coming year we'll evaluate about 1,500 patients from all around the country; all around the world really. We'll do about 150 to 200 fetal surgery operations and there will be about 500 women who will deliver their baby with a prenatally diagnosed birth defect, in our unique Garbose Family Special Delivery Unit at the Children's Hospital of Philadelphia.
This information is intended for additional research purposes only. It is not to be used as a prescription or advice from Ivanhoe Broadcast News, Inc. or any medical professional interviewed. Ivanhoe Broadcast News, Inc. assumes no responsibility for the depth or accuracy of physician statements. Procedures or medicines apply to different people and medical factors; always consult your physician on medical matters.
FOR MORE INFORMATION ON THIS REPORT, PLEASE CONTACT:
Ashley Moore
Children's Hospital of Philadelphia (CHOP)
(267) 426-6071
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