Preimplantation HLA testing

JAMA. 2004 May 5;291(17):2079-85. doi: 10.1001/jama.291.17.2079.


Context: Preimplantation genetic diagnosis (PGD) has become an option for couples for whom termination of an affected pregnancy identified by traditional prenatal diagnosis is unacceptable and is applicable to indications beyond those of prenatal diagnosis, such as HLA matching to affected siblings to provide stem cell transplantation.

Objective: To describe preimplantation HLA typing, not involving identification of a causative gene, for couples who had children with bone marrow disorders at need for HLA-matched stem cell transplantation.

Design, setting, and participants: HLA matching procedures conducted at a single site during 2002-2003 in an in vitro fertilization program for 9 couples with children affected by acute lymphoid leukemia, acute myeloid leukemia, or Diamond-Blackfan anemia requiring HLA-matched stem cell transplantation. In 13 clinical cycles, DNA in single blastomeres removed from 8-cell embryos following in vitro fertilization was analyzed for HLA genes simultaneously with analysis for short tandem repeats in the HLA region to select and transfer only those embryos that were HLA matched to affected siblings.

Main outcome measures: Results of HLA matching and pregnancy outcome.

Results: As a result of testing a total of 199 embryos, 45 (23%) HLA-matched embryos were selected, of which 28 were transferred in 12 clinical cycles, resulting in 5 singleton pregnancies and birth of 5 HLA-matched healthy children.

Conclusion: This is the first known experience of preimplantation HLA typing performed without PGD for a causative gene, providing couples with a realistic option of having HLA-matched offspring to serve as potential donors of stem cells for their affected siblings.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Anemia, Diamond-Blackfan / therapy
  • Directed Tissue Donation*
  • Embryonic Development*
  • Female
  • Fertilization in Vitro
  • HLA Antigens
  • Histocompatibility Testing*
  • Humans
  • Infant
  • Leukemia, Lymphoid / therapy
  • Leukemia, Myeloid / therapy
  • Pregnancy
  • Pregnancy Outcome
  • Siblings
  • Stem Cell Transplantation*


  • HLA Antigens