Infertility Management in Men with Cystic Fibrosis

Cystic fibrosis (CF) is a multisystem autosomal recessive disorder. CF has a reported incidence of 1 in 2 500 and a carrier frequency of 1 in 25. It is caused by mutations in a gene located on the long arm of chromosome 7. With almost 50% of patients with CF now in the adult population, and a very high interest in future parenting (78% of men wanting children), there is an increasing need to be proactive in terms of advice about reproductive health. Discussion on reproduction should start in early adolescence and be regularly updated by medical staff. The recent advances in reproductive techniques have allowed the development of sperm aspiration coupled with intra-cytoplasmic sperm injection (ICSI). Spermatozoa can be retrieved from either the epididymis or the testes. Genetic counselling is strongly recommended for both partners when congenital bilateral aplasia of vas deferens (CBAVD) is diagnosed as there is the inevitability of transmitting a mutated CFTR gene, and an increased risk of producing an affected child with serious long-term implications. Most treatment centres, with the introduction of ICSI, routinely screen all males with azoospermia caused by obstruction (other than that caused by vasectomy) or germ cell failure. Protocols usually involve screening for 28 relatively common CFTR mutations. Further advanced testing may be necessary up to a final detection level of approximately 98.5%. Before considering any assisted reproduction treatment, it is pertinent that CF patients receive medical and psychological counselling.