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PGT-HLA for HLA Matching

What is HLA Matching?

Allogeneic haematopoietic stem cell (HSC) transplantation represents the only curative option for leukemia and certain blood disorders, including β-thalassemia, sickle cell disease, Fanconi anemia, chronic granulomatous disease, Diamond-Blackfan anemia, Schwachman-Diamond syndrome, and Hyper IgM. The best possibilities of cure are provided by transplantation with Human Leukocyte Antigen (HLA)-identical sibling donors. Unfortunately, this ideal strategy cannot be used in the majority of cases because of the difficulty to find HLA-matched donors, even among family members.

If a pregnancy with a matched sibling is conceived, then the newborn umbilical cord blood can be collected during delivery and used to treat the affected sibling. Without intervention, there is a 25% chance of each sibling being a complete HLA match to their affected brother or sister. An increasing number of couples with a child affected by a hematological disease are requesting PGT-HLA for HLA matching to increase the chances of conceiving a healthy child who could become a future donor of umbilical cord blood stem cells to treat an affected recipient sibling.

What is PGT-HLA for HLA matching?

Preimplantation Genetic Testing Human Leukocyte Antigen (PGT-HLA) matching is used to identify embryos that are HLA compatible with a child who is in need of a bone marrow or cord blood transplant. PGT-M for HLA can be performed in conjunction with testing for a single gene disorder if needed, in order to recommend embryos that are both HLA-matched to an affected sibling and free of the inherited condition.

How does RGI test for HLA?

The scientists at RGI were the first to develop a PGT-M strategy that is optimized for HLA matching. This procedure involves generating a DNA fingerprint of the affected child's HLA region, and then determining if the HLA region in an embryo is the same or different. PGT-M for HLA includes the analysis of at least eight polymorphic (unique) markers throughout the HLA complex, and has been helpful in detecting potential recombination (the normal crossing-over process by which genes are "shuffled" when being transmitted from one generation to the next) that may compromise the likelihood of a match. This approach also permits HLA testing of embryos to be combined with analysis of a known single gene disorder.