Confirmation of diagnosis in preimplantation genetic diagnosis (PGD) through blastocyst culture: preliminary experience.

Three cases of preimplantation genetic diagnosis (PGD) (two for sexing and one for aneuploidy screening) are presented. Embryo biopsy was performed at day 3 and diagnosis was established with fluorescent in situ hybridization (FISH). Embryos not used for replacement were cultured in sequential media for blastocyst development. Blastocyst rate was 39.3 per cent. Confirmations of diagnosis were established with FISH in blastocysts and arrested embryos. Mosaicism was observed in 7/8 blastocysts (mean number of cells analysed: 55.5) and 5/8 arrested embryos. The percentage of abnormal cells was 17.1 per cent for blastocysts and 54 per cent for arrested embryos. Polypoid cells were observed in 4/8 blastocysts. Confirmation of diagnosis at the blastocyst stage is a useful tool in PGD.