Women with cystic fibrosis and their potential for reproduction

While it has long been appreciated that up to 98% of men with cystic fibrosis (CF) are infertile due to a failure to develop, or early blockage of, the mesonephric ducts and vas deferens,1 the effect of CF on the fertility of women is less clear. Survival is now into the fourth decade of life and, with the largest growth in the CF population seen in the adult age groups,2 it is not surprising that the issues of fertility and reproduction are increasingly raised in adult clinics. Pregnancy is possible and increasing numbers of children are born to women with CF each year.3 Since the first pregnancy in 1960,4 management of all aspects of CF has improved and so the prognosis for mother and child has also improved. This paper reviews the pathophysiology of CF in the female reproductive tract, its effect on fertility and the ability to carry a pregnancy, and the outcome for mother and infant.

CF is an autosomal recessive disease arising from abnormalities on the long arm of chromosome 7. Defective production of the cystic fibrosis transmembrane conductance regulator (CFTR) protein5—a complex channel regulating the passage of chloride and, indirectly, sodium and water across luminal cell membranes—results in thickened and desiccated secretions throughout the respiratory and alimentary tracts, sweat ducts, and the reproductive organs. The principal manifestations in adults are due to undernutrition resulting from pancreatic insufficiency and malabsorption, and respiratory failure due to chronic infection, bronchiectasis, and progressive lung destruction. Diabetes mellitus and cirrhosis are secondary manifestations resulting from pancreatic and biliary damage and are increasingly seen in older patients.