Preimplantation HLA typing with aneuploidy testing

Reprod Biomed Online. 2006 Jan;12(1):89-100. doi: 10.1016/s1472-6483(10)60986-8.


Preimplantation HLA typing has been introduced for the treatment of affected siblings, requiring HLA-identical stem cell transplantation. This was applied either in combination with preimplantation genetic diagnosis (PGD) to ensure that the preselected HLA-matched embryos were also free of the genetic disorder, or without PGD, with the only purpose of selecting and transferring the HLA-matched embryos. Because patients requesting preimplantation HLA typing are usually of advanced reproductive age, aneuploidy testing allows not only the avoidance of the birth of children with chromosomal disorders, but also improvement of the reproductive outcome, which is still not sufficiently high in preimplantation HLA typing at the present time. This study presents the results of the first experience of preimplantation HLA typing combined with aneuploidy testing, demonstrating feasibility and impact of aneuploidy testing on the accuracy and outcome of preimplantation HLA typing. Of a total of 138 cycles performed, 87 were combined with PGD and 52 without testing for the causative gene, of which aneuploidy testing was performed in 27 cycles, allowing the preselection and transfer of only those HLA-matched embryos that were also euploid. Although the euploid HLA-identical embryos were available for transfer in only half of these cycles, pregnancy and birth of unaffected HLA-identical children were observed in approximately half of these cycles, suggesting the potential usefulness of incorporating aneuploidy testing into preimplantation HLA typing.

Publication types

  • Comparative Study

MeSH terms

  • Adult
  • Aneuploidy*
  • DNA Mutational Analysis
  • DNA Primers
  • Embryo Transfer*
  • Evaluation Studies as Topic
  • Fanconi Anemia Complementation Group A Protein / genetics
  • Female
  • HLA Antigens / genetics*
  • Haplotypes / genetics
  • Histocompatibility Testing / methods*
  • Humans
  • Male
  • Pedigree
  • Pregnancy
  • Pregnancy Outcome
  • Preimplantation Diagnosis / methods*
  • beta-Thalassemia / genetics


  • DNA Primers
  • FANCA protein, human
  • Fanconi Anemia Complementation Group A Protein
  • HLA Antigens