Preimplantation genetic diagnosis (PGD) has become available as an alternative to prenatal diagnosis in order to avoid the risk for pregnancy termination, because PGD allows selection of unaffected embryos before a pregnancy is established, according to background information. Despite the need for ovarian stimulation and in vitro fertilization (IVF) to be part of the procedure, PGD has become an acceptable method for avoiding the birth of children with genetic disorders.
Preimplantation genetic diagnosis is applicable to indications beyond those of prenatal diagnosis, such as Human Leukocyte Antigen (HLA) matching to affected siblings to provide stem cell transplantation. HLA testing, also known as tissue typing, determines the compatibility between donors and recipients for the transplantation of solid organs (i.e. heart, liver, kidney and lung) and bone marrow. Compatibility within the HLA minimizes immune rejection.
Yury Verlinsky, Ph.D., of the Reproductive Genetics Institute, Chicago, and colleagues report the first clinical experience of preimplantation HLA matching not involving identification of a causative gene to demonstrate the feasibility of this approach for stem cell transplantation in siblings with bone marrow failure.
The study consisted of HLA matching procedures conducted during 2002-2003 in an in vitro fertilization program for nine couples with children affected by acute lymphoid leukemia, acute myeloid leukemia, or Diamond-Blackfan anemia (DBA) requiring HLA-matched stem cell transplantation. DNA was removed from embryos following in vitro fertilization and analyzed for
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