Intracytoplasmic sperm injection in infertile patients with structural cytogenetic abnormalities

OBJECTIVE: To investigate the incidence of chromosomal aberration in men an d women in an intracytoplasmic sperm injection (ICSI) program for severe ma le infertility as well as in conceptuses resulting from these ICSI treatmen ts. STUDY DESIGN: We evaluated chromosomal analysis, outcome of ICSI and the co nceptuses resulting from treatment of 301 couples included in ICSI program. RESULTS: Cytogenetic evaluation demonstrated structural anomalies in 11 cas es (3.6%), 9 men (2.9%) and 2 women (0.7%), all consisting of balanced chro mosomal translocations. There were no significant differences in the rates of developed embryos (44.2% versus 40.1%) in couples with abnormal (n=11) a nd normal (n = 290) chromosomal analysis. Embryo transfer led to a similar number of newborns (15.3% versus 12.4%) per transferred embryos, without an y correlation with parents' chromosomes. In 63 fetuses conceived from coupl es without chromosomal abnormalities, we observed one fetus affected by Pat au syndrome (47,XY, + 13). Two of four (50%) fetuses conceived by couples w ith male balanced chromosomal defects were carriers of the chromosomal tran slocation inherited from their fathers. The two fetuses resulted in the bir th of two infants observed to be normal at the 12-month pediatric follow-up . CONCLUSION The offer of this treatment to infertile couples with malefactor infertility should be accompanied by proper information regarding the gene tic risks of this treatment. ICSI remains a good therapeutic option for inf ertile patients, but prenatal diagnosis is mandatory because of the potenti al increased aneusomic risk for the offspring conceived.