Treatment of Fetal Cystic Fibrosis With Cystic Fibrosis Transmembrane Conductance Regulator Modulation Therapy

Abstract

Letters13 June 2023Treatment of Fetal Cystic Fibrosis With Cystic Fibrosis Transmembrane Conductance Regulator Modulation TherapyYair J. Blumenfeld, MD, Susan R. Hintz, MD, MS, Natali Aziz, MD, MS, Richard A. Barth, MD, Jacquelyn M. Spano, DNP, RN, Yasser Y. El-Sayed, MD, Carlos Milla, MDYair J. Blumenfeld, MDDivision of Maternal-Fetal Medicine & Obstetrics, Department of Obstetrics & Gynecology, Stanford University School of Medicine, Stanford, California, Susan R. Hintz, MD, MSDivision of Neonatal and Developmental Medicine, Department of Pediatrics, Stanford University School of Medicine, Stanford, California, Natali Aziz, MD, MSDivision of Maternal-Fetal Medicine & Obstetrics, Department of Obstetrics & Gynecology, Stanford University School of Medicine, Stanford, California, Richard A. Barth, MDDivision of Pediatric Radiology, Department of Radiology, Stanford University School of Medicine, Stanford, California, Jacquelyn M. Spano, DNP, RNDivision of Pulmonary Medicine, Department of Pediatrics, Stanford University School of Medicine, Stanford, California, Yasser Y. El-Sayed, MDDivision of Maternal-Fetal Medicine & Obstetrics, Department of Obstetrics & Gynecology, Stanford University School of Medicine, Stanford, California, Carlos Milla, MDDivision of Pulmonary Medicine, Department of Pediatrics, Stanford University School of Medicine, Stanford, CaliforniaAuthor, Article, and Disclosure Informationhttps://doi.org/10.7326/L23-0112 SectionsAboutFull TextPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissions ShareFacebookTwitterLinkedInRedditEmail Background: Cystic fibrosis (CF) is a life-shortening, autosomal recessive disease affecting approximately 150 000 people worldwide (1). The clinical manifestations of CF result from abnormalities in the cystic fibrosis transmembrane conductance regulator (CFTR) protein, and 80% to 90% of cases in populations of Northern European ancestry are due to a biallelic pathogenic variant (F508del) in the CFTR gene (2). Professional societies recommend screening for CF either in the preconception period or in early pregnancy (3).Over the past decade, CFTR modulator drugs have been introduced for the treatment of CF. Elexacaftor–tezacaftor–ivacaftor (ETI) is an oral combination of 3 such drugs. It ...References1. Guo J, Garratt A, Hill A. Worldwide rates of diagnosis and effective treatment for cystic fibrosis. J Cyst Fibros. 2022;21:456-462. [PMID: 35125294] doi:10.1016/j.jcf.2022.01.009 CrossrefMedlineGoogle Scholar2. Kessels SJM, Carter D, Ellery B, et al. Prenatal genetic testing for cystic fibrosis: a systematic review of clinical effectiveness and an ethics review. Genet Med. 2020;22:258-267. [PMID: 31467445] doi:10.1038/s41436-019-0641-8 CrossrefMedlineGoogle Scholar3. Committee opinion no. 690: carrier screening in the age of genomic medicine. Obstet Gynecol. 2017;129:e35-e40. Google Scholar4. Collins B, Fortner C, Cotey A, et al. Drug exposure to infants born to mothers taking elexacaftor, tezacaftor, and ivacaftor. J Cyst Fibros. 2022;21:725-727. [PMID: 34952795] doi:10.1016/j.jcf.2021.12.004 CrossrefMedlineGoogle Scholar5. Szentpetery S, Foil K, Hendrix S, et al. A case report of CFTR modulator administration via carrier mother to treat meconium ileus in a F508del homozygous fetus. J Cyst Fibros. 2022;21:721-724. [PMID: 35422395] doi:10.1016/j.jcf.2022.04.005 CrossrefMedlineGoogle Scholar Author, Article, and Disclosure InformationAuthors: Yair J. Blumenfeld, MD; Susan R. Hintz, MD, MS; Natali Aziz, MD, MS; Richard A. Barth, MD; Jacquelyn M. Spano, DNP, RN; Yasser Y. El-Sayed, MD; Carlos Milla, MDAffiliations: Division of Maternal-Fetal Medicine & Obstetrics, Department of Obstetrics & Gynecology, Stanford University School of Medicine, Stanford, CaliforniaDivision of Neonatal and Developmental Medicine, Department of Pediatrics, Stanford University School of Medicine, Stanford, CaliforniaDivision of Pediatric Radiology, Department of Radiology, Stanford University School of Medicine, Stanford, CaliforniaDivision of Pulmonary Medicine, Department of Pediatrics, Stanford University School of Medicine, Stanford, CaliforniaDisclosures: Disclosures can be viewed at www.acponline.org/authors/icmje/ConflictOfInterestForms.do?msNum=L23-0112.Corresponding Author: Yair J. Blumenfeld, MD, Department of Obstetrics & Gynecology, Stanford University School of Medicine; e-mail, [email protected]edu.This article was published at Annals.org on 13 June 2023. PreviousarticleNextarticle Advertisement FiguresReferencesRelatedDetails Metrics LatestKeywordsChildrenCystic fibrosisDrug therapyGastrointestinal tractLungsPregnancy ePublished: 13 June 2023 Copyright & PermissionsCopyright © 2023 by American College of Physicians. All Rights Reserved.PDF downloadLoading ...

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