Prenatal CFTR Modulator Therapy Service | Overview
At the Prenatal CFTR Modulator Therapy Service at Boston Children’s Hospital, we provide specialized, cutting-edge care for babies diagnosed in utero with cystic fibrosis (CF). Our team — made up of specialists from the Cystic Fibrosis Center and Fetal Care and Surgery Center — collaborates to provide innovative treatment, guidance, and support for families navigating this complex condition.
How we approach prenatal care for cystic fibrosis
Cystic fibrosis is caused by changes in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, which helps control how salt moves in and out of cells lining the lungs and other organs. This salt movement draws water to the surface of these tissues, keeping mucus thin and slippery so it can clear out bacteria and debris. When the CFTR protein doesn’t work properly, less water reaches the surface, and the mucus becomes thick, sticky, and harder to clear — key features of CF.
Our primary focus at the Prenatal CFTR Modulator Therapy Service is to administer and closely manage prenatal CFTR modulator therapy — an advanced treatment that uses oral medications to help the faulty CFTR protein function more effectively. When started during pregnancy, this therapy has been shown to improve fetal health and reduce complications such as poor fetal growth, preterm birth, and organ damage after delivery.
This care is delivered by our multidisciplinary team, which includes pulmonologists with expertise in CF, maternal-fetal medicine specialists, fetal surgeons, pharmacists, nurses, genetic counselors, and social workers. Together, we provide coordinated care and support from diagnosis through treatment and beyond.
Eligibility for CFTR modulator therapy
Prenatal CFTR modulator therapy is available to patients whose fetus has been diagnosed with cystic fibrosis (CF) through prenatal genetic testing that identified specific changes in the CFTR gene.
Once we confirm eligibility, we work closely with your obstetrics and maternal-fetal medicine teams to incorporate CFTR modulator therapy into your care plan. We closely monitor your pregnancy to evaluate how the treatment is working. Our team is here to answer your questions, support you and your baby, and help you understand the treatment, including its benefits and any risks. After delivery, we continue working with your pediatrician to support your child’s ongoing care.
Meet our team
Physicians
- Alireza Shamshirsaz, MD: Director, Fetal Care and Surgery Center
- Gregory Sawicki, MD: Director, Cystic Fibrosis Center
Nursing and genetic counseling
- Lena Joseph, MSN, RN: Nurse Manager, Cystic Fibrosis Center
- Tabitha Poorvu: Genetic Counseling Program Manager, Fetal Care and Surgery Center
Contact us
For questions about prenatal CFTR modulator therapy, please call the Fetal Care and Surgery Center at 617-355-6512 or email us.