In a pregnant woman with cystic fibrosis (F508del mutation), should Trikafta (elexacaftor/tezacaftor/ivacaftor) be continued or discontinued?

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Trikafta Use in Pregnancy

Continue Trikafta (elexacaftor/tezacaftor/ivacaftor) during pregnancy in women with cystic fibrosis and F508del mutations, as the benefits of maintaining maternal respiratory health and preventing disease deterioration outweigh theoretical risks, with no reported abnormalities to date in exposed pregnancies. 1

Evidence Supporting Continuation

The 2020 ERS/TSANZ Task Force on pregnancy management in airways diseases provides the most direct guidance on CFTR modulators during pregnancy. 1 The relative benefits of remaining on CFTR modulator therapy before, during and after pregnancy should be balanced against any theoretical risks, with multiple reports showing no abnormalities associated with these agents during pregnancy and breastfeeding. 1

Key Clinical Considerations

  • Maternal mortality risk is substantially elevated when CF patients with FEV1 <50% predicted discontinue disease-modifying therapy, particularly in those with Burkholderia cepacia colonization where maternal mortality is notably high. 1, 2

  • Trikafta provides transformative improvements in lung function (mean ppFEV1 improvement of 10.0-14.3 percentage points), respiratory symptoms (CFQ-R respiratory domain score improvement of 15.9-20.2 points), and CFTR function (sweat chloride reduction of 41.8-46.2 mmol/L) compared to prior therapies. 3, 4, 5

  • Pre-pregnancy lung function is the strongest predictor of maternal and fetal outcomes, with FEV1 >60-70% predicted associated with better outcomes, though successful pregnancies occur even with FEV1 <40% predicted. 2

Safety Profile in Pregnancy

  • No congenital abnormalities have been reported in multiple case reports of ivacaftor, lumacaftor, and related CFTR modulators used during pregnancy and breastfeeding. 1

  • The evidence base, while limited to case reports and case series rather than controlled trials, consistently shows no safety signals across multiple CFTR modulator exposures. 1

Risk of Discontinuation

Discontinuing Trikafta poses significant maternal risks:

  • Pregnancy itself increases pulmonary exacerbations and clinic visits in CF patients, even without medication changes. 1

  • Seven of 15 women with FEV1 <50% predicted died within 8 years of delivery in one single-center review, highlighting the critical importance of maintaining optimal lung function. 1

  • Loss of the 10-14 percentage point FEV1 improvement from Trikafta could push marginally compensated patients into high-risk categories for maternal mortality. 3, 4, 5

Monitoring During Pregnancy

  • Monthly multidisciplinary CF clinic visits during first and second trimesters, increasing to every 2 weeks in the third trimester or more frequently as needed. 1, 2

  • Oral glucose tolerance testing at pre-pregnancy, 12-16 weeks, and 24-28 weeks gestation to screen for cystic fibrosis-related diabetes. 1, 2

  • Maintain aggressive nutritional support targeting 110-150% of standard caloric needs with fat-soluble vitamin supplementation. 2

  • Continue regular airway clearance therapy and moderate aerobic exercise with modifications as pregnancy progresses, avoiding contact sports. 1

Common Pitfalls to Avoid

  • Do not discontinue Trikafta based solely on theoretical pregnancy concerns when the patient has demonstrated clinical benefit and stable disease on therapy. 1

  • Do not use A1C for diabetes screening in CF patients—OGTT is required as A1C is unreliable in this population. 2

  • Do not underestimate caloric requirements—CF patients require 110-150% of reference intake, which increases further during pregnancy. 2

  • Avoid allowing the patient to have direct contact with other CF patients due to person-to-person transmission risk of Pseudomonas aeruginosa. 2

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Professional Medical Disclaimer

This information is intended for healthcare professionals. Any medical decision-making should rely on clinical judgment and independently verified information. The content provided herein does not replace professional discretion and should be considered supplementary to established clinical guidelines. Healthcare providers should verify all information against primary literature and current practice standards before application in patient care. Dr.Oracle assumes no liability for clinical decisions based on this content.

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