Preimplantation Genetic Diagnosis (PGD) coupled to HLA-matching

This type of Preimplantation Genetic Diagnosis (PGD) will determine the HLA haplotype of embryos, for the purpose of selecting the unaffected, HLA-matched embryos which will act as a suitable donor for the treatment of an affected sibling (mainly through transplantation of hematopoietic progenitor cells derived from umbilico-placental blood during birth and/or bone marrow).

It is performed on single blastomeres (day 3 embryo biopsy) or blastocyst cells (day 5 blastocyst biopsy).

HLA-matching, through analysis of highly polymorphic STR markers, may include HLA-haplotyping ONLY (e.g. for leukemias) or incorporate parallel analysis for parental mutations of the gene disorder (e.g. thalassemias, other genetic disorders of the immune/ hematopoietic system). See our relevant publication: Pangalos C. et al, Fetal Diagn Ther. 2008; 24(4):395-9.

The process is comprised of 2 distinct phases:

• Phase 1: Design and validation of the PGD detection strategy (performed once per case/family)
• Phase 2: Testing of blastomeres (single blastomeres or blastocyst cells)

Please consult our laboratory in advance, for further information and instructions.

Time required for the completion of the 1st phase may be up to 2 months. It is only after the successful completion of the 1st phase, (for which you will be notified by our laboratory) that the IVF procedure may commence.