Normal pancreatic function and false-negative CF newborn screen in a child born to a mother taking CFTR modulator therapy during pregnancy

This report describes the first known case of an infant with cystic fibrosis (CF) whose mother was on highly effective modulator therapy (HEMT) throughout the pregnancy. The mother of the infant started taking the HEMT elexacaftor/tezacaftor/ivacaftor (E/T/I) in November 2019, shortly after US FDA approval of that medication. Prior to HEMT, she and her husband had been trying unsuccessfully to conceive a child. A recent review summarizes reproductive health in CF and the impact of CFTR modulators [1].
Source: Journal of Cystic Fibrosis - Category: Respiratory Medicine Authors: Tags: Case report Source Type: research