Objective: To evaluate the clinical effectiveness of preimplantation genetic diagnosis (PGD) for the couples having a higher risk of genetic diseases with fluorescence in situ hybridization (FISH).
Methods: Ovarian hyperstimulation, oocyte retrieval and in vitro fertilization were performed in 4 cases. Blastomere biopsy were performed from the embryos at the 6 - 8 cell stage. Genetic diagnosis was identified by single blastomere FISH. The female embryos or normal embryos were transferred into uterus.
Results: Twelve embryos were available for embryo biopsy. Twenty cells were collected. Seventeen nuclei were found after fixation. Hybridization signals of 11 embryos were clear and 8 embryos were transferred into uterus. One clinical pregnancy was achieved, and 1 normal female infant was delivered on september 14, 2001.
Conclusion: PGD is very valuable for avoiding selective abortion and birth of affected child of the couples having a higher risk of genetic diseases by detecting embryo sex and chromosome number using FISH.