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.