Abstract
Cystic fibrosis (CF) is a life-shortening genetic disorder caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. These mutations lead to abnormal ion transport in mucous membranes throughout the body, including in the respiratory and gastrointestinal and reproductive tracts. Improvements in care and therapy have led to substantial increases in the quantity and quality of life for those with CF. Consequently, women with CF are increasingly interested in having families. Although pregnancy was once discouraged for women with CF, at this point, even women with moderately severe lung disease can successfully navigate pregnancy. With the recent approval of a triple combination CFTR modulator therapy that improves lung function, nutritional status, and quality of life for people with a single copy of the most common CFTR mutation, it is expected that the number of women with CF who choose to become pregnant will continue to increase. Although animal reproduction models show no alarming signals for use during pregnancy at normal human doses, there is a paucity of human safety data in pregnancy and lactation. This review summarizes what is currently known about the impact of use of CFTR modulators on fertility, pregnancy, and lactation in women with CF.
Highlights
Cystic fibrosis, a genetic disorder observed in people of all races and ethnicities, affects approximately 80,000 people worldwide
It is caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, which leads to abnormal ion transport in mucous membranes throughout the body
This review summarizes what is currently known about the impact of use of CFTR modulators on fertility, pregnancy, and lactation in women with Cystic fibrosis (CF)
Summary
A genetic disorder observed in people of all races and ethnicities, affects approximately 80,000 people worldwide. Multiple case series and single site retrospective studies suggested that, in spite of the multitude of consequences of CFTR dysfunction, some women with CF could successfully navigate pregnancy and motherhood, lower lung function (as measured by percent-predicted forced expiratory volume in 1 s [ppFEV1]), infection with certain gram negative infections, such as the Burkholderia cepacia complex, and the complication of cystic fibrosis related diabetes (CFRD), were associated with increased risk [6,7,8,9,10,11] (Figure 2). The first approved CFTR modulator, ivacaftor, improved ppFEV1 by an average of 10.6% for the approximately 4% of people with the G551D (Gly551Asp) mutation [22,23]. Impact of CFTR Modulators on the Sexual and Reproductive Health (SRH) of Women with CF
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