Close
Enter your
text here

Treating Cystic Fibrosis Before Birth May Prevent Some of Its Earliest Complications

Treating Cystic Fibrosis Before Birth May Prevent Some of Its Earliest Complications 1024 575 Abbie Miller

At Nationwide Children’s, fetal medicine and pulmonary specialists are collaborating to offer an emerging prenatal treatment approach.

For children with cystic fibrosis, disease-related injury can begin before birth. Now, clinicians at Nationwide Children’s are using a cystic fibrosis transmembrane conductance regulator modulator — commonly called a CFTR modulator — during pregnancy with the goal of preventing some of the condition’s earliest and most serious complications.

The treatment, elexacaftor/tezacaftor/ivacaftor (ETI), is marketed as Trikafta. Unlike therapies that manage individual symptoms of cystic fibrosis, ETI improves the processing and function of the defective CFTR protein that causes the disease. When a fetus has cystic fibrosis, the pregnant patient takes the medication orally, allowing the therapy to reach the fetus through the placenta. This prenatal use is off-label and remains an emerging area of care supported primarily by case reports and small case series.

“Prenatal diagnosis gives us an opportunity to think differently about when treatment can begin,” says Adolfo Etchegaray, MD, chief of Fetal Medicine at Nationwide Children’s. “Rather than waiting for complications to become apparent after delivery, we may be able to intervene during a critical period of organ development. Every case requires extensive counseling and close monitoring, but this approach raises the possibility of changing the trajectory of disease before birth.”

Cystic fibrosis may be diagnosed prenatally through genetic testing of amniotic fluid. Ultrasound findings such as echogenic bowel, enlarged bowel loops or a nonvisualized gallbladder may also prompt further evaluation. For eligible families who choose treatment, the timing of ETI initiation is individualized based on gestational age, fetal findings and the clinical circumstances.

One major concern for a fetus with cystic fibrosis is meconium ileus, a bowel obstruction affecting approximately 15% to 20% of these newborns. The obstruction can require emergency surgery soon after delivery. Published reports suggest that prenatal exposure to CFTR modulators may resolve fetal bowel abnormalities or reduce the likelihood of meconium ileus.

In June 2026, Dr. Etchegaray and collaborators presented their initial experience with five pregnancies affected by prenatally diagnosed cystic fibrosis. Among fetuses treated prenatally with ETI, bowel findings remained stable or improved, and none developed meconium ileus or required NICU admission after birth. One fetus was not treated because advanced bowel disease, including suspected perforation, was already present when treatment was considered; that infant subsequently required surgery for meconium ileus

may also help preserve pancreatic function. In cystic fibrosis, thick secretions can obstruct pancreatic ducts and damage tissue beginning in utero. Early clinical reports raise the possibility that prenatal ETI exposure may preserve pancreatic function in some infants, although evidence remains limited and follow-up has identified potential pancreatic complications as ETI exposure decreases after birth.

“The possibility of preserving function — not simply treating damage after it occurs — is what makes this approach so compelling,” says Katelyn Krivchenia, MD, an attending physician in Pulmonary Medicine and director of the Infant Cystic Fibrosis and Newborn Screening Program at Nationwide Children’s. “At the same time, we are transparent with families that the evidence is still developing. These decisions depend on the baby’s genetic variants, the anticipated benefits, the potential risks and the family’s goals

The approach requires coordination among maternal-fetal medicine, genetics, neonatology, pharmacy and cystic fibrosis specialists. At the Fetal Center at Nationwide Children’s, this collaboration allows families to receive prenatal counseling, individualized treatment planning and monitoring before and after delivery.

ETI is not FDA-approved for prenatal treatment of cystic fibrosis; maternal administration specifically to treat an affected fetus is an off-label use.. Evidence regarding ETI during pregnancy and breastfeeding also remains limited, and no clinical trials have yet established its safety, effectiveness or pharmacokinetics during pregnancy.

“Families considering prenatal treatment for cystic fibrosis need a team with deep expertise in fetal diagnosis, maternal care, genetics, pharmacology and cystic fibrosis,” Dr. Etchegaray says. “At the Fetal Center, our specialists work together to carefully evaluate the potential benefits and risks, monitor both the pregnant patient and fetus, and plan for care after delivery. This integrated and multidisciplinary care is essential when offering an emerging treatment approach.”

 

References:

  1. Etchegaray A, Haas B, Ogunleye O, Stephan E, Krivchenia K. Prenatal treatment of cystic fibrosis with elexacaftor-tezacaftor-ivacaftor: A single-center US experience. Presented June 2026 at the World Congress in Fetal Medicine.
  2. Metcalf A, Hoppe JE, Martiniano SL, Zaretsky MV, Zemanick ET, Sagel SD. In utero CFTR modulator therapy in fetuses with cystic fibrosis. Neoreviews. 2026 Mar;27(3):e157-e169. doi: 10.1542/neo.27-3-103.
  3. Haskett H, Fortner C, Shanley L, Ren CL. Elevated serum lipase in infants with cystic fibrosis exposed to prenatal and postnatal elexacaftor/tezacaftor/ivacaftor. Journal of Cystic Fibrosis. 2025 Nov;24(6):1090-1093. doi: 10.1016/j.jcf.2025.07.013.
  4. Magnas P, Bouazza N, Foissac F, Urien S, Froelicher-Bournaud L, Liu G, Guillemart V, Carlier N, Da Silva J, Fesenbeckh J, Kanaan R, Honore I, Martin C, Treluyer JM, Tsatsaris V, Burgel PR, Benaboud S. Pregnancy-related effect on elexacaftor, tezacaftor and ivacaftor pharmacokinetics in women with cystic fibrosis. British Journal of Clinical Pharmacology. Published online May 2026. doi:10.1002/bcp.70620.

 

 

 

 

 

About the author

Abbie (Roth) Miller, MS, MWC, is a passionate communicator of science. As the manager of medical and science content at Nationwide Children’s Hospital, she shares stories about innovative research and discovery with audiences ranging from parents to preeminent researchers and leaders. She is a Medical Writer Certified®, credentialed by the American Medical Writers Association, and received her masters of science in Health Communication from Boston University.

You might also like