Effect on Women’s Health
Evidence of the increase in fertility in women on modulators is in abundance. Using the United Kingdom CF Registry through 2017 (prior to ETI availability), the overall pregnancy rate in PwCF was 3.3 times lower than the general population; however, after introduction of CFTR modulators, the pregnancy rate increased 1.5 times in those with G551D mutations37. A retrospective review at two centers also demonstrated an increase in pregnancies after initiation of ETI, noting that many of those females previously had infertility or subfertility issues38. Based on this increase in fertility, an increased understanding of the needs of PwCF in regard to reproductive goals and family planning was explored39, including in the adolescents population40. The pregnancy outcomes were reported in case series for 52 pregnancies in women with CF on ETI41,42. The clinical course varied, some opting to stop ETI, while others continued, but complications were minimal with none felt to be related to ETI. Assessing 3 mother infant pairs, ETI was found to be measurable in the cord blood and breast milk43. Separately, infants evaluated during lactation had no complications, however only two were formally assessed for cataracts. One of the most exciting reports in the past year, was the case report of an infant with CF born to a mother with CF who was on ETI during pregnancy44. The infant had a false negative NBS, however genetic testing revealed two copies of F508del. The infant was breast fed while mom continued ETI. Additional testing revealed a SC of 60-67 mmol/L, normal fecal elastase as assessed monthly, normal ophthalmologic exam for cataracts, and no respiratory concerns. Overall, the improvements in women’s health are remarkable and it is truly exhilarating to hear about the outcome for the infant with CF who received ETI while in utero/through breast milk.