Saving baby Evelyn: The importance of finding the right fetal care doctor

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Not only can fetal lung malformations cause breathing and feeding problems, they can even lead to infant heart failure.

Surgery is usually what it takes, but the right diagnosis and doctor make a world of difference.

The Pulice family couldn't believe their luck.

"I'll never forget, we were so thrilled to find out we were having a little girl," Shalayna Pulice recalled. "We had a little boy at home, and we were hoping for a little girl."

But elation turned to fear after one ultrasound showed a lesion on baby Evelyn's left lung.

"It's terrifying," Shalayna said. "You very much take for granted that your child's going to be healthy."

Their first doctor said Evelyn would be rushed into surgery as soon as she was born and would have a large incision down her back.

Something didn't feel right, so Shalayna went online and found Dr. Darrell Cass, the director of fetal surgery and the Fetal Care Center at Cleveland Clinic. He leads a team of fetal surgery specialists.

"A comprehensive fetal treatment program is a collaboration of lots of different specialists that come to the table," he said. "There's the obstetricians and the maternal fetal medicine doctors."

A fetal MRI gave doctors a better diagnosis and plan.

"Evelyn had a specific type of lung malformation we commonly call extra low bar pulmonary sequestration," Cass said.

The Pulices brought baby Evelyn home right away and three months later went back for surgeons to remove her lesion without any large incision.

"She's experienced no problems, no side effects," Shalayna said.

Shalayna urges other parents not to automatically accept an initial diagnosis.

"We were so grateful to find someone who made us feel so comfortable," she said.

And baby Evelyn's grateful too.

There are only about 20 fetal treatment centers in the United States. Cleveland Clinic, University of California San Francisco and University of Maryland Medical Center are three of them.

Cass says it's important to seek out an experienced team to make sure your baby is getting the most successful outcome.

RESEARCH SUMMARY
SAVING BABY EVELYN
REPORT #2696

BACKGROUND: Fetal surgery is performed on babies while they are still in the womb. It allows doctors to treat serious and life-threatening conditions and stop progressive damage, while also keeping the baby in utero long enough to grow and develop. Around one in every 33 babies is born with a birth defect, and there are more than 4,000 known birth defects in which the causes are largely unknown. Birth defects are the leading cause of death in the first year of life. The amount of federal research funding allocated to research into better and earlier treatments for babies with birth defects is significantly lacking. However, advances in diagnostic tools have allowed more and more birth defects to be diagnosed before birth. The future looks to cellular and gene therapy to offer the hope in treating diseases before birth. (Source: https://www.chop.edu/health-resources/fetal-surgery-infographic)

FETAL TREATMENT CENTERS: Until the 1990s, fetal surgery was a risky proposition that was only done if the defect, most often a lung malformation or a problem with the diaphragm, was likely to cause death if not treated before birth. Joshua Copel, MD, professor of obstetrics, gynecology and reproductive sciences and of pediatrics at Yale School of Medicine and associate chief medical officer of Yale Medicine says, "Every day is exciting, every baby referred to us presents new challenges. We're known for being one of the first places in the country to offer fetal ultrasound and means of fetal diagnosis and treatment." Fetal surgeries fall into two categories. Open surgery is when doctors open the uterus, as done in a Caesarean section, and lift the fetus out of the womb so that it can more readily be operated upon. Endoscopic surgery is a procedure in which tiny incisions are made in the mother's abdomen, and doctors operate using specialized instruments that are threaded into these minute openings. The patient in this story, Evelyn, is continuing to grow and progress just as other children her age. She's strong and independent despite all she has been through. Evelyn was about 1-year post surgery when this story was produced. (Source: https://www.yalemedicine.org/stories/fetal-surgery/)

PROMISING RESEARCH: A grant awarded to a team at the Colorado Fetal Care Center and University of Colorado Medical Center allowed development of a minimally-invasive repair for open neural tube defects such as spina bifida using a bioengineered material. Initial studies show that covering the defect with the reverse thermal gel at an early gestational age may help to preserve neurological function. Then, a team at Johns Hopkins School of Medicine utilized their grant award to develop a new repair technique for a two-port open fetoscopic myelomeningocele (a severe form of spina bifida). The researchers used ultrasound-based 3D multi-material printing to generate an individualized, patient–matched medical model to prepare the surgical team prior to performing a complication-free, watertight closure repair. Their work illustrated the value of using this patient-specific procedure to prepare for complex multi-specialty fetal surgery. (Source: https://www.fetalhealthfoundation.org/story/why-were-so-excited-about-the-latest-advances-in-fetal-medicine/)