Retrospective descriptive study to determine the incidence of cystic fibrosis, fragile X syndrome and abnormal karyotype in female donors

Abstract

OBJECTIVE: Quantify the incidence of hereditary pathologies in females who decide to be oocyte donor. Since the beginning of oocyte donor program in 2001, the requirements to be accepted as a donor have been the following: negative serologies for HBV, HCV, HIV, RPR, normal Karyotype, blood group and absence of any personal or familiar clinical or psychological disorder. Due to some cases of cystic fibrosis and fragile X syndrome detected in our clinic, we decided to incorporate the screnning of these genetic pathologies to optimize the present oocyte donor program. DESIGN: Retrospective descriptive study of the frequence of donors with cystic fibrosis, fragile X syndrome or abnormal karyotype found out in IVI Seville, between February 2007 and December 2007. MATERIALS AND METHODS: Retrospective descriptive study of the frequence of donors with cystic fibrosis, fragile X syndrome or abnormal karyotype found out in IVI Seville, between February 2007 and December 2007. RESULTS: During this period, 275 volunteered to donate oocytes at our clinic. After we carried out the screening we had to exclude 24 (8,7 %) women for different reasons. Two (9 %)of this 24, were eliminated because of an abnormal karyotype (46XX, 21p+;46XX, 16ph+) 0,7% of the total, fifteen (62%) were dicarded for presenting cystic fibrosis (twelve in 5T allele and three in A508 allele) 5,4% of the total, and seven (29%) were carriers of fragile X syndrome of permutation in heterozygocity, 2,5% of the total. CONCLUSIONS: Due to the incidence we founds we considered useful to realize these test genetic in all donors before we accept them. This way we decrease the risk of inheritance of a genetic disorder in the children of the oocyte donor program.