Pregnancy in Cystic Fibrosis—Past, Present, and Future

Abstract

The introduction of mutation-specific therapy led to a revolution in cystic fibrosis (CF) care. These advances in CF therapies have changed the disease profile from a severe incurable disease with limited survival to a treatable disease with improved quality of life and survival into adulthood. CF patients are now able to plan their future, including marriage and parenthood. Side by side with the optimism, new issues and concerns are arising, including fertility and preparation for pregnancy, maternal and fetal care during pregnancy, and post-partum care. While cystic fibrosis transmembrane regulator (CFTR) modulators show promising results for improving CF lung disease, data on their safety in pregnancy are still limited. We performed a literature review on pregnancy in CF from the past, with the first described pregnancy in 1960, through the current fascinating changes in the era of CFTR modulators, to ongoing studies and future directions. Current advances in knowledge give hope for improved outcomes of pregnancy, towards the best possible prognosis for the mother and for the baby.

Highly effective cystic fibrosis transmembrane conductance (regulator) modulator therapy: shifting the curve for most while leaving some further behind

“…More recently, there have been two case reports of infants with two CF causing mutations who had fetal imaging indicative of meconium ileus reversed when their mothers (CF carriers) were initiated on ETI [46,47 ▪ ]. These cases suggest prenatal ETI exposure provides correction of CFTR function [48]. As there is not a pregnancy indication for ETI, nor is there FDA approval for use in a CF carrier, use in these scenarios is off-label.…”

Evolution of nutritional management in children with cystic fibrosis – a narrative review

“…As data emerge illustrating the different relationship between BMI and lung function in pancreatic‐sufficient patients (including a decrease in forced expiratory volume in 1 s [FEV1] associated with BMI > 85th centile), 46 focus will need to be given to this group. Use of CFTRm has led the emergence of other unexpected situations; for example, a dramatic rise in pregnancies in national registries has been observed 9–11,47 …”

“…Use of CFTRm has led the emergence of other unexpected situations; for example, a dramatic rise in pregnancies in national registries has been observed. [9][10][11]47 The advancement in therapies means that nutritional professionals will be required to manage a broader range of patients: those on CFTRm (with and without side effects), those ineligible, intolerant or without access to CFTRm 48 and those living longer with worse lung function or post lung transplant. Nutritional professionals will also be working with an increasing adult caseload with potentially age-related comorbidities (e.g., hypertension and heart disease), not previously evident in this population.…”