Preimplantation Genetic Diagnosis and HLA-Typing: The Potential for Selection of Unaffected HLA Matched Siblings



Haematopoietic stem cell transplantation (HSCT or bone marrow transplantation) is an effective treatment for many disorders of the haematopoietic system and has the potential to offer a cure for life. It is therefore an important treatment option, and for some genetic conditions may be the only option available. Numerous reports show that the best survival outcomes are achieved when a sibling who has the same genetic HLA type as the patient is available. Preimplantation HLA typing provides the opportunity in specific cases to select an HLA-matched unaffected embryo that may be a suitable HSCT donor for an affected sibling using umbilical cord blood collected from the placenta at the time of birth. When the procedure of cord blood collection is unsuccessful, ethical issues are raised about bone marrow harvest from the ‘saviour sibling’.


Umbilical Cord Blood Chronic Granulomatous Disease Preimplantation Genetic Diagnosis Haematopoietic Stem Cell Transplantation Matched Unrelated Donor 
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Further Reading

  1. Devolder K. Preimplantation HLA typing: having children to save our loved ones. J Med Ethics. 2005;31:582–6.PubMedCrossRefGoogle Scholar
  2. El-Toukhy T, Bickerstaff H, Meller S. Preimplantation genetic diagnosis for haematologic conditions. Curr Opin Pediatr. 2010;22(1):28–34.PubMedCrossRefGoogle Scholar
  3. Gennery et al. J Allergy Clin Immunol. 2010;126(3):602–10.Google Scholar
  4. Kahraman S, Beyazyurek C, Ekmekci CG. Seven years of experience of preimplantation HLA typing: a clinical overview of 327 cycles. Reprod Biomed Online. 2011;23(3):363–71.PubMedCrossRefGoogle Scholar
  5. Ljungman P, Bregni M, Brune M, European Group for Blood and Marrow Transplantation, et al. Allogeneic and autologous transplantation for haematological diseases, solid tumours and immune disorders: current practice in Europe 2009. Bone Marrow Transplant. 2010;45(2):219–34.PubMedCrossRefGoogle Scholar
  6. Pennings G, Schots R, Liebaers I. Ethical considerations on preimplantation genetic diagnosis for HLA typing to match a future child as a donor of haematopoietic stem cells to a sibling. Hum Reprod. 2002;17:534–8.PubMedCrossRefGoogle Scholar
  7. Rivat C, Santilli G, Gaspar HB, Thrasher AJ. Gene therapy for primary immunodeficiencies. Hum Gene Ther. 2012;23(7):668–75. doi: 10.1089/hum.2012.116.PubMedCrossRefGoogle Scholar
  8. Shankarkumar U. The human leukocyte antigen system (HLA) system. Int J Human Genet. 2004;4(2):91–103.Google Scholar
  9. Zierhut H, MacMillan ML, Wagner JE, Bartels DM. More than 10 years after the first ‘savior siblings’: parental experiences surrounding preimplantation genetic diagnosis. J Genet Couns. 2013;22(5):594–602.Google Scholar

Copyright information

© Springer-Verlag London 2014

Authors and Affiliations

  1. 1.Department of Immunology and Bone Marrow TransplantPaediatric Nurse Practitioner-Immunology and Bone Marrow Transplant, Great Ormond Street Hospital for Children NHS Foundation Trust, Great Ormond Street HospitalLondonUK
  2. 2.Molecular Immunology UnitGreat Ormond Street Hospital and UCL Institute of Child HealthLondonUK

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