Abstract
Cystic fibrosis (CF) is the most common genetic disease in the United States (US) and, with the development of newer therapeutics, there is increased fertility among women with CF. We present a series of pregnant patients taking novel CF transmembrane conductance regulator (CFTR) modulators and summarize pertinent clinical considerations. All women conceived within four months after starting elexacaftor-ivacaftor-tezacaftor. Pulmonary function was stable before and during pregnancy. One patient developed transaminitis necessitating discontinuation of the medication mid-trimester. All patients delivered healthy neonates between 36-38 weeks of gestation with uncomplicated postpartum courses. No birth defects were encountered. Given that newly introduced CFTR modulators may increase fertility among CF patients, contraception counseling, pulmonary function monitoring, liver function monitoring, and multi-disciplinary care are important pillars of management.
Highlights
Cystic fibrosis (CF) results from an autosomal recessive mutation in the CF transmembrane conductance regulator (CFTR) protein causing derangements of sodium and chloride ion transport that result in progressive lung dysfunction and gastrointestinal, exocrine, endocrine, and reproductive alterations [1]
We present a series of five women who became pregnant shortly after initiation of the CFTR modulator combination therapy of elexacaftor-ivacaftor-tezacaftor
We will continue to see an increase in pregnant women using CFTR modulators
Summary
Cystic fibrosis (CF) results from an autosomal recessive mutation in the CF transmembrane conductance regulator (CFTR) protein causing derangements of sodium and chloride ion transport that result in progressive lung dysfunction and gastrointestinal, exocrine, endocrine, and reproductive alterations [1]. The second patient is a 28-year-old G2P1001 Hispanic female with CF (genotype F508del/P205S, prepregnancy BMI 33.6 kg/m2, baseline FEV1 56.6% predicted) who began prenatal care at 10 weeks gestation She delivered a full-term infant by vaginal delivery at age 19, but for the past seven years, she reported an inability to conceive. Patient 3 is a 28-year-old G1P0 Caucasian female with CF (genotype homozygous F508del, pre-pregnancy BMI 21.5 kg/m2, baseline FEV1 65% predicted) who began prenatal care at eight weeks Her medical history was significant for malnutrition, pancreatic insufficiency, chronic sinusitis, anxiety and depression, gastroesophageal reflux, endometriosis, MRSA colonization, and pseudomonas colonization. The fourth patient is a 29-year-old G2P0010 Caucasian female with CF (genotype F508del/G551D, prepregnancy BMI 16.7 kg/m2, baseline FEV1 66%) who began prenatal care at 13 weeks Her medical history was significant for allergic rhinitis, chronic sinusitis, constipation, gastroesophageal reflux, pancreatic insufficiency, pancreatic cyst, kidney stone, anxiety, depression, Burkholderia cepacia colonization, and MRSA colonization. CF: cystic fibrosis; FEV1: forced expiratory volume in 1 second; GA, gestational age
Sign-in/Register to view highlights & summary Sign-in/Register to access full text options 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
