RELEVANCE OF GENETIC-COUNSELING IN COUPLES PRIOR TO INTRACYTOPLASMIC SPERM INJECTION

Since the first reports of successful pregnancies after treatment with intracytoplasmic sperm injection (ICSI) in humans numerous attempts h ave been made to assess the genetic risks of this highly invasive tech nique, During the study period (February 1995-November 96), 142 couple s were referred to our genetic counselling unit prior to ICSI, Tn thre e couples, genetic counselling revealed a high recurrence risk for a m onogenic disease (myotonic dystrophy, hereditary ataxia and polycystic kidney disease), In nine out of 128 men (7%) an abnormal karyotype wa s identified, including three Robertsonian translocations, two recipro cal translocations, three sex chromosome aberrations and one case with centric fission of chromosome no, 7. A total of 14 men refused chromo somal analysis, Only one of the 122 women examined had an abnormal kar yotype (47, XXX), Five out of six men with congenital bilateral absenc e of the vas deferens (CBAVD) had at least one mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Three had mu tations in both CFTR alleles, including one case in which the second m utation was the ST allele. One patient with CBAVD and a single Delta F 508 CFTR mutation also had left renal agenesis, In conclusion, we stro ngly recommend that genetic counselling, chromosomal analysis and, in the case of CBAVD, screening for CFTR mutations should be offered to a ll couples with a diagnosis of male or idiopathic infertility.