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Experience on PGD Combined with HLA Matching

6^ International Symposium on Preimplantation Genetics - London 2005
19-23 May 2005

INTRODUCTION: PGD has recently been used in combination with HLA matching, allowing selection and transfer of unaffected embryos also having a close HLA match with those of an existing affected child in need of a hematopoetic stem cell transplant. We report our experience on preimplantation HLA matching, describing strategy and clinical outcome data of 60 cycles from 45 couples overall. MATERIALS AND METHODS: An indirect single-cell HLA typing protocol based on a multiplex fluorescent PCR of STR markers located within the HLA complex was used. Mutation analysis was performed using the minisequencing method. RESULTS: A total of 530embryos were tested for HLA matching, obtaining a conclusive diagnosis in 483/530 (91.1%) embryos. Totally, 74 (15.3%) embryos revealed an HLA match with the affected siblings, 55 (11.4%) of which resulted unaffected and 46 (9.5%) have been transferred to the patients. Nine pregnancies were achieved, 5 healthy HLA matched children have been already delivered and cord blood stem cells were transplanted to 3 affected siblings, resulting in a successful hematopoietic reconstruction. CONCLUSION: These results, complemented by other similar experiences, demonstrate reliability and usefulness of preimplantation HLA matching procedure.

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