When Kristen Amen and Tony Garcia learned that their baby would be born with a condition called congenital diaphragmatic hernia (CDH), at first the news was devastating. Because of a hole in her diaphragm—the thin sheet of muscle that separates the chest from the abdominal cavity—the baby's liver and other organs had migrated to her chest, suppressing development of the lungs. This case was so severe that the baby almost certainly would die soon after birth.
Searching on the web for news about CDH, Kristen found other parents whose children have this disorder. She learned about doctors in San Francisco who have saved some babies with the most severe anomalies by operating on them before birth. That was Kristen and Tony's first introduction to the Fetal Treatment Center at the University of California San Francisco.
Kristen, Tony and their families met with Drs. Harrison, Filly and members of the FTC team. They include the sonologists and surgeons who diagnose a defect before birth and perform surgery if it may save the baby's life; the obstetricians/ perinatologists who care for mothers before surgery; the neonatologists who care for the babies in intensive care once they are born; clinical nurse specialists and medical social workers. Kristen and Tony learned that some babies with severe CDH had been saved by surgery performed at UCSF before birth. They also heard sobering news about the risks of the procedure for Kristen and the difficulties she and Tony would face over the ensuing months.
Dr. Harrison told them about a new type of surgery for CDH and some other fetal defects, called FETENDO for "fetal endoscopic surgery." Instead of opening the uterus, the surgeons insert a tiny telescope called a fetoscope and miniature surgical instruments through incisions small enough to cover with a Band-Aid. They operate on the fetus entirely within the womb. The procedure is safer for the mother and safer for the fetus—it reduces the chances of preterm labor in comparison with open fetal surgery, where a large incision must be made in the uterus and in the amniotic sac. A premature birth would reduce the amount of time for the fetus to develop in the womb after prenatal surgery, and threaten the child's chances of survival.
Only eleven FETENDO operations had been performed on CDH fetuses up to that time. The results had been promising, but Harrison and the FTC team could not guarantee Kristen and Tony that their operation would be successful. However, without fetal surgery, even with the best medical intervention after birth, the chances of survival from CDH range from 10 to 50 percent. So far, no mother has suffered long-term physical problems due to fetal surgery. A survey of the mothers has shown that those who did not have prior infertility and who wanted to bear more children have been able to do so. However, the fetal treatment team told Kristen that the risks to each mother are real -- the same sorts of risks that anyone faces in a major operation under general anesthesia.
In addition, Tony and the family learned that Kristen would need lots of support after the operation—she would have to take medications, remain on bed rest and travel in a wheelchair to help prevent preterm labor. Even once the baby was born, the saga would not end: The child would still need another operation to fix the hole in her diaphragm. The baby would receive neonatal intensive care for weeks, perhaps months. For many parents, particularly those who must find care for older children and leave friends and family far away, the process can involve much personal hardship. (For more information for mothers who face fetal surgery, click here)
Some people -including Kristen's original obstetrician - advised her not to go ahead with the procedure. However, with the support of both of their families, Kristen and Tony decided to go ahead with the surgery. They named the baby Analisa Angelique.
"I know she may not survive," Kristen said a few days before her operation. "I know when she grows up she may not be able to run and jump as much as other kids. But I just want to give her the best chance I can."
The surgeons planned to wait until after birth to perform the traditional operation for CDH, where they open the abdomen and repair the hole in the diaphragm. Before birth, while the fetus was floating in-utero, they would perform an operation on her throat, to close her trachea or windpipe. If all went well, that small intervention could make all the difference in the baby's lung capacity.
"Endoscopic methods are the future of fetal surgery," Harrison says. "They are safer for the mother, and less invasive to her pregnancy. That means we have a better chance of preventing preterm labor, and a better chance that after surgery the fetus will develop well and be more nearly normal at the time of birth."
Closing the fetal trachea is only the climax of an operation that requires a crowd of participants. There are two or three surgeons to perform the operation, working with a sonologist who guides their view of the fetus via ultrasound. There are two anesthesiologists, to monitor the mother's vital signs and prevent her pain and to do the same for the fetus. There are an obstetrician who specializes in high-risk pregnancy and a pediatrician who specializes in newborn infants, as well as highly-trained nurses and technicians. For Kristen's operation, there also was another crowd in the waiting room—parents, grandparents, sisters, brothers and friends all anxious to hear the outcome. When Harrison came out of the operating room, it was to tell them that so far, all had gone very well.
In the aftermath of the operation Kristen spent several days feeling more uncomfortable than she ever had in her life, hooked up to monitors, catheters and an array of medical devices to protect her and her fetus during recovery. She suffered from a buildup of fluid in her lungs that required a face mask to provide supplemental oxygen—pulmonary edema can be life-threatening if not treated rapidly, and this was a frightening experience. She spent a week in the perinatal care section of at The Birth Center at UCSF. After discharge from the hospital, she went to San Francisco's Ronald McDonald House to stay for the duration of her pregnancy.
With help from her mother, her grandmother and Tony—who commuted from his job 50 miles away—Kristen kept occupied while sitting in bed and traveling all but short distances in a wheelchair. She knew that every day she remained pregnant, Analisa's lungs would have more time to develop and grow. Friends and family put their names on a calendar, guessing the date the baby would be born. By the third week, news from the ultrasound exams was good: the baby's lungs were visibly larger. Early in the seventh week after surgery, about 32 weeks after her baby's gestation, Kristen's labor began.
The fetal surgery team assembled in the delivery room for the baby's birth. They delivered the baby by cesarean section—but only partially. Because of the clips on her throat, the child needed a special delivery procedure, dubbed EXIT (Extra-Utero Intrapartural Treatment), performed by the fetal surgery team. The baby remained attached to the umbilical cord, and the anesthesiologists worked to keep the placenta viable, still providing life support. The fetal surgeons hurried to remove the clips from her trachea and stitch up the tiny wound on her neck. They inserted a tube down her throat and into her lungs to suction out the fluid and began gently pumping in air. When the baby was breathing with the help of a respirator, they finished her delivery and cut the umbilical cord:
"Welcome to the world, Analisa," Harrison sang out.
The baby was whisked from the delivery room into a neonatal resuscitation room to prepare her with the monitors and breathing support she would need in her first days of life. Then she was taken down the hall to the neonatal intensive care nursery—with a pause for the crowd of admirers from Kristen and Tony's families. Tony reached into the isolette to touch the baby's fingers.
Less than an hour old, eight weeks premature and weighing in at just over four pounds, Analisa gripped her slender hand around her father's finger. While Kristen recovered from her C-section delivery, Analisa had surgery three days after birth to replace her liver and other organs back in her abdomen, and close the hole in her diaphragm with a GoreTex patch.
Then the baby's main task was to recover both from her operations and from the effects of being born prematurely. This is a frightening time for parents. The prenatal surgery has improved the child's chances of normal lung development, crucial for survival. But the child still must recover from surgery and begin to grow and thrive. From the beginning, Analisa did very well, with her lungs doing some of the work of taking in oxygen with a boost from a respirator. She remained under the constant care of the nurses and doctors in the neonatal intensive care nursery for six weeks, until she learned to breathe and eat on her own, drinking breast milk that Kristen pumped and saved for her so she would have the best chance for good health. For Kristen and Tony, it was a strange introduction to parenthood, rocking their baby and teaching her to drink from a bottle while she remained attached to tubes and monitors. By the time Analisa was ready to go home, Kristin had spent most of her time for four months in or near the hospital.
A few months after going home, Analisa had another operation to further repair her diaphragm. By five months of age, she was a happy, giggling baby, starting to explore her world. Her mother said, "We are so in love with our daughter. We are so happy she is here."