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Preimplantation genetic diagnosis (PGD) has become an established procedure for the detection of single gene disorders, and has recently been performed together with human leukocyte antigen (HLA) typing for couples with children affected by genetic disorders that require HLA-identical stem cell transplantation therapy. For these couples, PGD can ensure the birth of an unaffected child, and because HLA-matched stem cell transplantation improves or completely restores the immune system, this child may also serve as a potential stem cell donor for affected siblings. This paper presents the first cumulative experience (18 cycles) of PGD for detection of the following immunodeficiencies: Wiscott–Aldrich syndrome, X-linked hyper-IgM syndrome (HIGM), X-linked hypohidrotic ectodermal dysplasia with immune deficiency (HED-ID), ataxia telangiectasia and Omenn syndrome, resulting in the transfer of unaffected embryos in 13 cycles and the birth of seven unaffected children, with one healthy pregnancy ongoing. HLA-identical stem cells from some of these children have been used for transplantation therapy, resulting in the restoration of normal function in siblings with HIGM and HED-ID.
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Dr Yury Verlinsky is a graduate, post-graduate and PhD of Kharkov University of the former USSR. His research interests include cytogenetics, embryology and prenatal and preimplantation genetics. He introduced polar body testing for preimplantation genetic diagnosis and developed the methods for karyotyping second polar body and individual blastomeres. He has published over 100 papers, as well as three books on preimplantation genetics.
Accepted: November 1, 2006
Received: August 30, 2006
© 2007 Reproductive Healthcare Ltd, Duck End Farm, Dry Drayton, Cambridge CB23 8DB, UK. Published by Elsevier Inc. All rights reserved.