The introduction of cystic fibrosis transmembrane conductance regulator modulators (CFTRms) in the treatment of cystic fibrosis (CF) has significantly improved both the life expectancy and quality of life for patients affected by the disease. While this new therapy shows promising results in CF patients, data about the use of CFTRms during pregnancy in women who are carriers with fetuses affected by CF are limited. We present a new case report and literature review of fetal CF treated by the maternal assumption of CFTRms to understand the safety and the effectiveness of the treatment in resolving fetal and neonatal CF clinical manifestations (meconium ileus, postnatal exocrine pancreatic insufficiency, and postnatal intestinal surgery). Our report represents the fifth unsuccessful case of fetal CF treated in utero by CFTRms and highlights the potential key elements necessary for a successful treatment.

Antenatal CFTR Modulators to Treat a Healthy Pregnant Woman with a Fetus Affected by Cystic Fibrosis Complicated by Meconium Ileus and Intestinal Volvulus: From a Suspicion of the Disease to a Targeted Treatment in Utero: Case Report and Narrative Review / Montironi, Ramona; Giannubilo, Stefano Raffaele; Cappanera, Irene; Capogrosso, Giulia; Mancinelli, Romina; Rinci, Arianna; Ciavattini, Andrea. - In: JOURNAL OF CLINICAL MEDICINE. - ISSN 2077-0383. - ELETTRONICO. - 15:5(2026). [10.3390/jcm15051933]

Antenatal CFTR Modulators to Treat a Healthy Pregnant Woman with a Fetus Affected by Cystic Fibrosis Complicated by Meconium Ileus and Intestinal Volvulus: From a Suspicion of the Disease to a Targeted Treatment in Utero: Case Report and Narrative Review

Montironi, Ramona
Primo
;
Giannubilo, Stefano Raffaele
Secondo
;
Cappanera, Irene;Capogrosso, Giulia;Mancinelli, Romina;Rinci, Arianna;Ciavattini, Andrea
Ultimo
2026-01-01

Abstract

The introduction of cystic fibrosis transmembrane conductance regulator modulators (CFTRms) in the treatment of cystic fibrosis (CF) has significantly improved both the life expectancy and quality of life for patients affected by the disease. While this new therapy shows promising results in CF patients, data about the use of CFTRms during pregnancy in women who are carriers with fetuses affected by CF are limited. We present a new case report and literature review of fetal CF treated by the maternal assumption of CFTRms to understand the safety and the effectiveness of the treatment in resolving fetal and neonatal CF clinical manifestations (meconium ileus, postnatal exocrine pancreatic insufficiency, and postnatal intestinal surgery). Our report represents the fifth unsuccessful case of fetal CF treated in utero by CFTRms and highlights the potential key elements necessary for a successful treatment.
2026
CFTR; ETI; cystic fibrosis; fetus; intestinal volvulus; meconium ileus
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11566/355197
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