Couples with a high risk for genetic diseases in their offspring now have the possibility of undergoing pre-im­plantation genetic diagnosis (PGD), usually performed on blastomeres. The only possibility of performing PGD in Germany at this time is the use of polar body (PB) analy­sis. This paper presents the first results of PB diagnosis on cystic fibrosis (CF) and aneuploidies. For two couples with children affected with CF, a multiplex polymerase chain reaction (PCR) assay was established, to detect the muta­tion and linked polymorphic markers in PBs. In one of these two couples, second PBs could also be investigated, leading to a higher accuracy of diagnosis. For aneuploidy diagnosis, 102 PBs from 13 couples undergoing intracyto­plasmic sperm injection (ICSI), were investigated. Aneu­ploidies of the chromosomes 15, 16 and 22 were tested using fluorescent in situ hybridization (FISH). The aneu­ploidy rate only for these chromosomes was 19.8%.

Key words: Polar bodies (PBs); Pre-implantation genetic diagnosis (PGD); Cystic fibrosis (CF); Aneu­ploidy.