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

CN Fortner, JM Seguin, DM Kay - Journal of Cystic …, 2021 - cysticfibrosisjournal.com
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]. The parents of the baby sought genetic …