Congenital bilateral absence of the vas deferens, cystic fibrosis mutationanalysis and intracytoplasmic sperm injection

The aim of this study was to assess the outcome of intracytoplasmic sperm i njection (ICSI) with fresh and frozen-thawed surgically retrieved spermatoz oa from men diagnosed with congenital bilateral absence of the vas deferens (CBAVD), Twenty-seven azoospermic men with their partners mere treated [25 with CBAVD and two with clinical cystic fibrosis (CF)]. CF gene mutation a nalysis and genetic counselling was provided, Spermatozoa were aspirated by microsurgical epididymal sperm aspiration (MESA), percutaneous epididymal sperm aspiration (PESA) or open testis biopsy. Of the men with CBAVD, 60% c arried a single mutation, 20% were compound heterozygotes, and 20% had no C F mutation identified. Of the 28 sperm aspiration procedures, 86% had suppl ementary spermatozoa for cryopreservation with 83% of those samples assesse d as satisfactory when thawed, Of 29 cycles with fresh spermatozoa a fertil ization rate of 76% of oocytes injected and 17% embryo implantation rate oc curred. Twenty-four cycles in which cryopreserved spermatozoa were used res ulted in an oocyte fertilization rate of 69% and embryo implantation rate o f 20%, Eighteen clinical pregnancies occurred with 14 live births without c ongenital anomaly. Two pregnancies were achieved following pre-implantation genetic diagnosis, It is concluded that the presence of CF mutations in th e male partner does not compromise in-vitro fertilization treatment outcome s or the opportunity for healthy live births.