Article
A case report of CFTR modulator administration via carrier mother to treat meconium ileus in a F508del homozygous fetus.
Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society - 1 Jul 2022
Szentpetery Sylvia, Foil Kimberly, Hendrix Sara, Gray Sue, Mingora Christina, Head Barbara, Johnson Donna, Flume Patrick A
Abstract excerpt
We report elexacaftor-tezacaftor-ivacaftor (ETI) treatment of a F508del carrier who was pregnant with a F508del homozygous fetus. At 23-weeks gestation meconium ileus (MI) was evident on ultrasound including dilated, hyperechoic bowel, which persisted on subsequent imaging. Through shared decision-making, the mother began ETI at 32 weeks with intent to treat fetal MI. The ultrasound findings persisted at...
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