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Preimplantation Genetic Testing

Human Leukocyte Antigen (PGT-HLA) Matching

PGT-HLA identifies embryos that are HLA compatible with a child who is in need of a bone marrow or cord blood transplant used to treat a sibling affected with certain blood disorders.

Understanding Human Leukocyte Antigen Matching

Allogeneic haematopoietic stem cell (HSC) transplantation represents the only curative option for leukemia and certain genetic disorders, including:

  • β-thalassemia
  • Sickle Cell Disease
  • Fanconi Anemia
  • Chronic Granulomatous Disease
  • Diamond-Blackfan Anemia
  • Schwachman-Diamond Syndrome
  • Hyper IgM

Possibilities of cure for such blood disorders 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. However, if a pregnancy with a matched sibling is conceived, the resulting umbilical cord blood can be collected during delivery and used in stem cell transplantation, to treat the affected sibling.

Benefits of PGT-HLA

Often performed in conjunction with preimplantation genetic testing for single gene disorders, PGT-HLA for HLA matching identifies embryos that are both HLA-matched to an affected sibling and free of the inherited condition.

PGT-HLA is requested by couples desiring a child who is HLA compatible with a sibling who is in need of a bone marrow or cord blood transplant. HLA testing has been performed for families with conditions such as β-thalassemia, sickle-cell disease, Fanconi anemia, hyper IgM, and aplastic anemia.

PGT-HLA for HLA matching offers the likelihood of a healthy child who could become a future donor of umbilical cord blood stem cells used to treat an affected recipient sibling. Without intervention, there is a 25% chance of each sibling being a complete HLA match to their affected brother or sister.

HLA testing has been performed for families with conditions such as β-thalassemia, sickle-cell disease, Fanconi anemia, hyper IgM, and aplastic anemia.

Reproductive Genetic Innovations scientists were the first to develop a strategy for preimplantation genetic testing for single gene disorders 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. RGI conducts an analysis of at least eight polymorphic (unique) markers throughout the HLA complex. This approach permits HLA testing of embryos to be combined with analysis of a known single gene disorder to identify an embryo not inheriting the mutation in question.

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RGI is a recognized leader in the field of assisted reproductive technologies, and has performed Preimplantation Genetic Testing (PGT) for thousands of families all over the world.

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