title: Congenital bilateral absence of the vas deferens, cystic fibrosis mutation analysis and intracytoplasmic sperm injection.
abstract: The aim of this study was to assess the outcome of intracytoplasmic sperm injection (ICSI) with fresh and frozen-thawed surgically retrieved spermatozoa from men diagnosed with congenital bilateral absence of the vas deferens (CBAVD). Twenty-seven azoospermic men with their partners were treated [25 with CBAVD and two with clinical cystic fibrosis (CF)]. CF gene mutation analysis 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% carried a single mutation, 20% were compound heterozygotes, and 20% had no CF mutation identified. Of the 28 sperm aspiration procedures, 86% had supplementary spermatozoa for cryopreservation with 83% of those samples assessed as satisfactory when thawed. Of 29 cycles with fresh spermatozoa a fertilization rate of 76% of oocytes injected and 17% embryo implantation rate occurred. Twenty-four cycles in which cryopreserved spermatozoa were used resulted in an oocyte fertilization rate of 69% and embryo implantation rate of 20%. Eighteen clinical pregnancies occurred with 14 live births without congenital anomaly. Two pregnancies were achieved following pre-implantation genetic diagnosis. It is concluded that the presence of CF mutations in the male partner does not compromise in-vitro fertilization treatment outcomes or the opportunity for healthy live births.
authors.affiliation: The Fertility Centre, Private Bag 4711, Christchurch Women's Hospital, Christchurch, New Zealand.
authors.forename: G T
authors.initials: GT
authors.lastname: Phillipson
authors.forename: O M
authors.initials: OM
authors.lastname: Petrucco
authors.forename: C D
authors.initials: CD
authors.lastname: Matthews
mesh_terms: D000328:Adult; D015925:Cryopreservation; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D004624:Embryo Transfer; D005260:Female; D005817:Genetic Counseling; D005838:Genotype; D006579:Heterozygote; D006801:Humans; D007248:Infertility, Male / Q000628:therapy; D008297:Male; D009154:Mutation; D009845:Oligospermia / Q000628:therapy; D010641:Phenotype; D011247:Pregnancy; D011256:Pregnancy Outcome; D020554:Sperm Injections, Intracytoplasmic / Q000379:methods*; D013094:Spermatozoa; D014649:Vas Deferens / Q000002:abnormalities*
chemical_list: C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator