From Fetal Imaging to Beyond: A Multidisciplinary Approach

Experts from different specialties come together to make a definitive diagnosis and care plan for patients with fetal anomalies.

01/15/2019

Published in Gynecology and Obstetrics - Gynecology and Obstetrics Winter 2019

When patients receive news that there may be something wrong with the fetus they are carrying, maternal-fetal medicine specialist Angie Jelin and her colleagues have a comprehensive and multidisciplinary system in place to help patients and their families know more about their baby’s condition and what to expect through pregnancy, birth and beyond. The first step, she says, is getting a better look at the fetus in utero to make a more conclusive diagnosis.

Using ultrasound and occasionally MRI, a skilled team of technologists perform imaging not just of the abnormality in question, but of the entire fetus to identify any additional anomalies that might be affected by global syndromes. Once they’ve identified any issues affecting the fetus, the patient is offered a consult with genetic counseling, if necessary, so they can better understand the diagnosis.

Once the diagnosis is clear, the multidisciplinary team springs into action. Jelin and her colleagues meet once a week to discuss all their complex cases, looping in other experts from fetal-maternal medicine, fetal therapy, NICU and PICU physicians and nurses, and other pediatric subspecialties, depending on the issues being discussed. These might include cardiology, neurology, neurosurgery, or experts from Johns Hopkins’ Greenberg Center for Skeletal Dysplasia. Social workers and chaplains also often attend these meetings as well, Jelin notes.

After this multidisciplinary team develops a plan, patients and their families are invited to meet with each of the members involved in their care. As often as possible, Jelin says, these appointments occur in conjunction, sparing patients multiple appointments on different days. A new fetal program nurse coordinator, who started in August 2018, works with patients and members of the care team to schedule these joint appointments, help them navigate the medical system, and stay well informed throughout this process.

The team then follows patients throughout their pregnancies, deliveries, and postnatal/neonatal period, making sure that they and their babies receive the most comprehensive care possible. Such close follow-up during this stressful time can help ease patients’ anxieties at each step, Jelin says.

“The unknown is a cause of stress for patients,” she adds. “When they come to the perinatal ultrasound unit, we provide them with specifics about how things are going to happen, how their baby’s condition will be managed, and who they’ll work with. This knowledge can help empower them, and takes away the stress of the unknown.”

Maternal-fetal medicine specialist Angie Jelin and colleagues meet once a week to discuss complex cases, looping in other experts from fetal therapy, NICU and PICU physicians and nurses, and other pediatric subspecialties, depending on the case. Image shows artistic rendering of fetus at 9 months.

“When patients come to the perinatal ultrasound unit, we provide them with specifics about how things are going to happen, how their baby’s condition will be managed, and who they’ll work with.”

Angie Jelin

Clinical Trial: Fetoscopic Repair for Myelomeningocele

The gold standard for spina bifida has long been surgery within two days after birth to close the defect over the spinal cord with the baby’s muscle tissue and skin and correct spinal deformities. However, research within the past decade has shown that surgically repairing the defect in utero, between about 20 to 26 weeks gestation, leads to better outcomes—significantly more children who can walk independently and have better motor function, and significantly fewer who require a shunt for hydrocephalus.

But the benefits of repair before birth are overshadowed by the risks of this procedure, which apply mainly to the mother, says Johns Hopkins fetal therapy specialist Jena Miller. Because this procedure is typically performed in an open fashion, requiring a substantial incision in the uterus, there’s a high risk from the surgery itself and of the scar opening during the current and future pregnancies. Cesarean birth is always required afterward, and babies are typically delivered preterm.

To avoid these problems, Miller and her colleagues are currently investigating repairing myelomeningocele with minimally invasive fetoscopy. She’s leading a clinical trial at Johns Hopkins that will enroll at least 15 mothers whose fetuses have this condition. The researchers are recording extensive details from each operative case and following the babies’ health during the rest of gestation, birth, and up to 30 months afterward. They’re particularly interested in whether the surgery reduces the need for shunts and allows these babies to retain motor skills, particularly movement in their lower limbs.

Thus far, nine of the babies enrolled in the study have been born, with the first patient just recently turning a year old. Outcomes look promising, Miller says, with results in line with other published data using a similar technique at Baylor College of Medicine.

“If the data holds up and the outcomes are durable,” she says, “we hope that this procedure will become an acceptable alternative for myelomeningocele that’s better for moms and better for babies.”

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From Fetal Imaging to Beyond: A Multidisciplinary Approach