Reproductive Counseling and Care in Cystic Fibrosis: A Multidisciplinary Approach for a New Therapeutic Era

Abstract

With the advent of highly effective modulator therapies, many people with cystic fibrosis (CF) are living longer, healthier lives. Pregnancy rates for women with CF more than doubled between 2019 and 2021, reflecting increases in both planned and unplanned pregnancies. For men with CF, CF-associated infertility can be mitigated with assistive reproductive technology, yet patient knowledge of these challenges and options is variable. Preconception and prenatal counseling for individuals with CF and for parents of children with CF who wish to expand their families requires nuanced discussions to promote informed reproductive decisions, drawing from a combination of standard practice recommendations and CF-specific assessments. This review article synthesizes the current literature and practice recommendations regarding reproductive counseling and care in CF, outlining the role of genetic counseling, carrier screening, teratogen counseling, in vitro fertilization and pre-implantation genetic diagnosis, and careful assessment and management of cystic fibrosis-related diabetes when present. Via a multidisciplinary, patient-centered approach, clinicians can support adults with CF and parents of children with CF as they make informed reproductive decisions and embark on family planning.

Cystic fibrosis–related metabolic defects: crosstalk between ion channels and organs

“…In the United States, approximately 1 in 30 individuals are CF carriers, and it is estimated that there are currently over 160,000 people living with CF ( 6 ). Several decades ago, the life expectancy for patients with CF was just 30 years of age, and treatments were limited ( 7 ). However, recent medical breakthroughs, particularly the FDA approval of Trikafta in 2019 (VX18-445-104, ClinicalTrials.gov ID: NCT04058353), have increased life expectancy for patients with CF into the fifties and is continuing to rise, with some patients now living into their eighties ( 7 ).…”

“…Several decades ago, the life expectancy for patients with CF was just 30 years of age, and treatments were limited ( 7 ). However, recent medical breakthroughs, particularly the FDA approval of Trikafta in 2019 (VX18-445-104, ClinicalTrials.gov ID: NCT04058353), have increased life expectancy for patients with CF into the fifties and is continuing to rise, with some patients now living into their eighties ( 7 ). Trikafta is the first approved CF medication that affectively treats patients with the ΔF508 variant and has been approved for use in patients as young as two years of age ( 8 ).…”