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Article

CFTR modulator therapy via carrier mother to treat meconium ileus in a F508del homozygous fetus: Insights from an unsuccessful case

21 Mar 2025

Abstract excerpt

We present a case of a carrier mother treated with elexacaftor/tezacaftor/ivacaftor (ETI) for in-utero management of meconium ileus in a fetus diagnosed with cystic fibrosis (CF), homozygous for the F508del variant. Following multidisciplinary discussion and shared decision-making involving the parents, ETI was initiated at 27 weeks of gestation. At 38+4 weeks, the infant was delivered. Despite the treatment, the...

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PMID: 40118755
DOI: 10.1016/j.jcf.2025.03.006

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