Congenital Chylothorax and Lymphatic Embolization: Austin's Story

Ashley was about 20 weeks into her first pregnancy when she tested positive for chickenpox. Though Ashley felt fine and had no symptoms, her obstetrician advised her to get additional prenatal testing done to ensure the virus wasn't affecting her baby's growth.

Over the next few weeks, tests showed the baby was thriving in utero and growing normally. Ashley went to her last “special” ultrasound fully expecting to be given the "all clear." Instead, a doctor discovered fluid was rapidly accumulating around the baby’s lungs. Ashley was immediately referred to the Center for Fetal Diagnosis and Treatment (CFDT) at Children’s Hospital of Philadelphia (CHOP).

Uncertain risk

The fluid around the baby's lung was becoming an increasingly serious concern, especially as it began to interfere with the baby’s heart function. Initially, doctors weren’t sure what was causing the fluid to accumulate, but CFDT clinicians were able to provide interim treatment to minimize the fluid buildup while they identified the cause.

At Ashley’s first trip to the CFDT at CHOP, she and her unborn baby underwent a thorough evaluation and advanced fetal imaging tests to identify or rule out specific chromosomal disorders. At that visit, Nahla Khalek, MD, a maternal fetal medicine specialist and clinical geneticist in the CFDT, also performed a minimally invasive ultrasound-guided fetal procedure to drain approximately 100 ccs (nearly 3.5 ounces) of fluid from the baby’s chest.

Diagnosis: chylothorax

After testing the fluid, doctors determined the baby had congenital chylothorax, a condition in which the body’s lymphatic system improperly leaks lymphatic fluid into the chest. Still uncertain at that point: The precise nature and cause of the lymphatic leak.

The speed with which a seemingly normal pregnancy became anything but — combined with the uncertainty of what treatments the baby might need after birth — was exceedingly difficult for Ashley and her husband, Shawn. “We knew it was serious when we were referred to CHOP," Ashley says. "But I had to keep it together for my son. I didn’t want my blood pressure getting too high and causing more problems for the baby.”

What helped keep her calm was the care and expertise provided by the medical team at CHOP. “The staff are like angels; I can’t even put it into words,” she says. “It made me feel more comfortable just knowing they knew what to do next.

"They explained what they were doing and what they hoped for," she adds.

“They always had a plan, so I felt I could trust them.”

Coordinated birth plan

As the fluid continued to accumulate in the baby’s chest, Ashley underwent another minimally invasive ultrasound-guided fetal surgery procedure. This time, Dr. Khalek placed a temporary shunt in the baby’s chest to continuously drain the fluid and delay labor for as long as it was safe.

To ensure they were close to CHOP if labor started, Ashley and her husband remained in Philadelphia for the next week. At 37 weeks' gestation, Ashley was induced and gave birth in the Garbose Family Special Delivery Unit, the world's first birth facility within a pediatric hospital for healthy mothers carrying babies with known birth defects.

Austin was born looking healthy and had an Apgar score of 9 out of 10, indicating his lungs were functioning normally. "He was a screaming, happy baby,” Ashley says with a laugh.

Despite the initial positive news, Austin still had fluid in his chest. To get extra support, he spent the first two weeks of his life in the Newborn/Infant Intensive Care Unit.

Lymphatic embolization

When he was 4 days old, Austin underwent a procedure to seal off the leaks that allowed his lymphatic fluid to drain into his chest. Yoav Dori, MD, PhD, Director of CHOP’s Jill and Mark Fishman Center for Lymphatic Disorders, performed a magnetic resonance lymphangiography, imaging that uses MRI and contrast dye to map the anatomy of the lymphatic system and determine the exact location of lymphatic leaks.

Dr. Dori used a small needle to go through the lymph nodes in Austin’s groin and injected the contrast dye. Once the location of the leak was identified, Dr. Dori injected lipiodol, a special oil that is used to seal shut the leaks.

Following the procedure, Austin was kept on a low-fat formula diet for six months, with frequent follow-up appointments at CHOP. With the guidance of CHOP's Lymphatic team, Austin's parents slowly transitioned their son to regular formula, adding one extra bottle of standard formula per week until he was on a completely regular diet.

‘Making up for lost time’

Now just over a year old, Austin is a typically active little boy.

“He’s a busy kid, always on the go and he loves to eat," says Ashley. "The way he eats, we joke that he’s making up for lost time when he was on the low-fat formula. And he’s big — already 26 pounds!”

Austin should not require further treatment or ongoing monitoring, although doctors advised Ashley to bring him back to CHOP for chest X-rays if he ever experiences respiratory problems to make sure the lymphatic leak hasn’t returned.

“He’s starting daycare now, and it’s hard not to worry every time he gets the sniffles,” Ashley acknowledges. “I just try to put the past behind us and remember that all kids get sick.”

Although Austin is healthy with a great prognosis, Ashley understandably worries about what the future could hold. One thing she did to prepare for the unknown was to write Austin a detailed letter outlining all the procedures he had as a newborn.

“If anything ever happens to me, he needs to know what happened and what he went through,” she explains.

Despite the difficulties and unknowns, Ashley looks to the positive.

“At a difficult time, I put my faith in [CHOP] and they made me feel better. If people have a concern about their child’s health, there isn’t any better place they could go.”