When Lauren McDonough began experiencing contractions midway into her first pregnancy, her doctor suspected that everyday stress might be the cause. But, says McDonough, when those contractions became her “constant companion,” her stress turned into real worry.
Noting very high amniotic fluid levels, her doctors suspected an esophageal atresia, a rare birth defect in which the upper and lower parts of the baby’s esophagus do not connect. They recommended she see a maternal-fetal medicine specialist at the Fetal Care Center, a partnership between Yale Medicine and Yale New Haven Children's Hospital.
An ultrasound revealed that esophageal atresia was indeed the cause of McDonough’s polyhydramnios, or excess fluid. “Amniotic fluid is mostly the baby’s urine. Swallowing and urinating is the cycle, and if there is any obstruction along the way, it can cause too much fluid to accumulate,” says Mert Ozan Bahtiyar, MD, a Yale Medicine maternal-fetal medicine specialist, and medical director of the Fetal Care Center.
That same day, Dr. Bahtiyar and the Fetal Care Center team of maternal-fetal medicine specialists, neonatologists, pediatric specialists and pediatric surgeons began to devise a plan to address the baby’s atresia. David Stitelman, MD, surgical director of the Fetal Care Center, oversaw the surgical planning. Meanwhile, Orly Levit, MD, who heads up neonatalology at the Fetal Care Center, coordinated plans for after the baby’s birth.
“I really appreciated their candor,” McDonough, 34, says of her experience with the medical team. “They said to us, ‘We understand this is going to be tough. But, while this is rare to you, it’s not rare to us.’”
A team approach
Esophageal atresia is one of the many complex conditions affecting fetal development that the physicians at the Fetal Care Center commonly treat. Established in 2014, the Fetal Care Center treats pregnant women whose babies are diagnosed with fetal anomalies, overseeing them from diagnosis through delivery to neonatal care.
The center also coordinates and performs complex in utero surgical procedures, including fetal blood transfusion, fetal shunt placement, radiofrequency ablation, and fetoscopy. “Once the patient is diagnosed with fetal anomaly, the Fetal Care Center immediately devises a personalized care plan and we track the patient’s care in real time,” says Dr. Bahtiyar.
The center’s care coordinator, Diane Wall, RN, typically manages up-to-the-minute information, including ultrasound reports, fetal MRI results, delivery plans and other test results, for as many as 80 patients at any time. “One of the very important things Diane ensures is that all necessary tests and consultations are done in a timely fashion,” Dr. Bahtiyar says. “There are a variety of systems in place to monitor patients, but it all still relies on human intelligence.”
The multidisciplinary Fetal Care Center team, led by Dr. Bahtiyar and Wall, convenes each week to coordinate plans for at-risk babies in utero and to relay key information to the pediatric specialists, so they will be prepared to take over the care of these babies once they are born.
Throughout her pregnancy, the Fetal Care Center team looked after McDonough, while collaborating with pediatric surgeons and neonatologists. Well before giving birth, an appointment was scheduled for McDonough to meet the pediatric team that would care for her son. Surgery would wait until her son was born, so that further tests could be performed.
“This way, as soon as he was delivered, she would know who was going to come and see her and her baby—and what they were going to do,” says Dr. Bahtiyar. This approach allowed the family to have all of their questions answered at once, instead of meeting individually with each provider.
“It used to be that families would have a meeting with a surgeon, but during that meeting, they would have a lot of questions about the neonatal care. They would then have a separate visit with the neonatologists. It was fragmented,” says Doruk Ozgediz, MD, a Yale Medicine pediatric surgeon. “There are a lot of centers that have great physicians, but what works best for the more complex cases is the ability of the different specialties to communicate with each other and come up with coordinated plans.”
For McDonough, the team approach helped. “It wasn’t easy having to hear that my son would need to have surgery after he was born, but it was really comforting that we had a whole group of doctors working with us and they were all so compassionate,” she says.
A baby is born
Carried to full term, her baby was born in mid-August of 2015, and named Kevin after his father and grandfather. Dr. Ozgediz and his team decided to keep Kevin in the Neonatal ICU for several months to allow time for the esophagus to further develop before they operated.
In addition to the esophageal atresia, Kevin had another rare birth defect called tracheoesophageal fistula (TE fistula). The condition, which often accompanies esophageal atresia, happens when the esophagus and trachea (windpipe) are connected in one or more spots (instead of remaining as two separate tubes).
“Kevin grew twice as fast as they estimated he would and they were able to perform the surgery three months ahead of schedule,” McDonough says.
The operation, which was performed by Dr. Ozgediz with assistance from Yale Medicine’s Michael Caty, MD, took place on Nov. 19, 2015, and was a success. The surgeons closed up the fistula between the trachea and the esophagus, and then connected the two parts of the esophagus.
Kevin was released from the hospital in early December after a 118-day stay at Yale New Haven Children’s Hospital, just in time to celebrate his first Christmas with his parents in their Norwalk home.
Now a happy, healthy and sociable 2-year-old, Kevin is known as “the mayor” of his day care and is doing very well. He recently began periodic visits with Anthony Porto, MD, MPH, a Yale Medicine pediatric gastroenterologist, to address issues from a common complication that occurs among children with esophageal atresia or TE fistula.
Kevin has a stricture, which is a narrowing of the esophagus at the site where it was connected. The scar tissue builds up gradually and progressively makes the gap smaller, which can cause food to become lodged in his throat. “Kevin will never actually outgrow it, but the hope is that it will become less aggressive over time,” says McDonough, who is expecting her second child this spring. “They are treating me with kid gloves, but I feel great, and my doctors have assured me that Kevin’s case was 1 out of 400,000 and they don’t think it’s likely to happen again.”
Meanwhile, Dr. Ozgediz will follow Kevin, probably until he is a teenager, says Dr. Stitelman. “We started thinking about this child before birth. To have that kind of continuity of care is very special,” he says.
Carrie MacMillan contributed to this story.