Fetal Care Team Shares Insights at SMFM Annual Conference
Researchers from Cincinnati Children’s Fetal Care Center are taking part in a novel multicenter study of how prenatal genome sequencing for 750 fetal structural anomalies impacts the clinical management of the pregnancy and the infant’s care after birth.
Preliminary findings were presented at this year’s annual pregnancy meeting of the Society for Maternal-Fetal Medicine (SMFM) in February by Ronald Wapner, MD, of Columbia University Irving Medical Center. Cincinnati Children’s co-authors included genetic counselors Leandra Tolusso, MS, LGC, and Beatrix Wong, MS, LGC; and site principal investigators Nancy Leslie, MD, and Daniel Swarr, MD.
Empowering Clinicians, Parents to Make Care Decisions
Cincinnati Children’s joined four other hospitals in the study: Baylor College of Medicine, Columbia University, UTHealth Houston and the University of North Carolina. The New York Genome Center served as one of the testing labs.
Investigators include maternal-fetal medicine specialists, surgeons, neonatologists, geneticists and genetic counselors.
“We are trying to answer the question of once we have genetic testing results—positive or negative—what happens next? How did mom’s care change? How did the delivery change? How did management of the baby’s care change?” Tolusso says.
Sequencing results allow parents and care teams to make meaningful care decisions. The genome sequencing also helps educate families about recurrence risk and address issues of family planning as appropriate.
Going ‘Beyond the Standard of Care’
This research lets clinicians look beyond the standard of care to see what’s missing.
In the study, a diagnosis was made in 15.1% of patients, and a suspicious DNA variant was reported in 2.9%. Genome sequencing provides a more comprehensive look at a baby’s genetic makeup than exome sequencing, Wong says.
This is significant because clinicians want to identify the genetic cause for conditions and understand what’s occurring with the goal of patient care in mind. The study opens avenues to finding answers:
- What do we know about genetic conditions during pregnancy?
- Does genetic testing change pregnancy, delivery and neonatal management?
- How do parents feel about the testing process? What did they learn?
“The thinking was, now that we have more understanding of these rare conditions in pediatric patients, let’s look back and see if we can spot it earlier,” Wong says.
Most patients in this study had a unique genetic diagnosis.
“We can’t just look at a fetal image result and say this looks like A or B,” Tolusso says. “There is so much variability in genetic differences. We really need to look at the genome sequencing.”
Making Genetic Testing Available to All
Expect many more insights and results to come from this study. Recently closed, this is just the first data set.
Tolusso and Wong envision the study providing guidance to healthcare providers and families as they make decisions in the prenatal diagnostic space. They believe it can change medical care.
“This study allows us to say that genetics does have an impact—not just on pregnancy management,” Wong says. “It’s also about access to testing and care. The study gives evidence that everyone should have genetic testing available to them.”
Cincinnati Children’s participation in the genome sequencing work now connects it to a worldwide fetal sequencing consortium and leading scientists in this specialty.
‘The Right Thing to Do’
The Fetal Care Center team believes the investment of time, effort and resources in this work is the right thing to do.
“It’s what people come to us for: the best care,” Tolusso says.
Anecdotally, families say they feel reassured after completing the genome sequencing.
The testing provides a sense of calm and peace as parents make decisions related to:
- Family planning
- Planning next steps for their baby
- Prenatal and neonatal care
Wong says the team wants families to feel hopeful. “We know they feel stressed because they’re going to the Fetal Care Center, but we also want them to know they are getting expert care for their baby.”
How the fetal care team communicates with families is important, Tolusso says. She looks forward to seeing additional study data from parent psychosocial interviews.
“Patients ask us how they can make decisions about genetic testing,” Tolusso says. “These study results will give us some data on how the testing helped or caused worry.”
(Published April 2024)
