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August 18, 2004

Preimplantation Testing to Produce an HLA-Matched Donor Infant

Author Affiliations

Letters Section Editor: Robert M. Golub, MD, Senior Editor.

JAMA. 2004;292(7):803. doi:10.1001/jama.292.7.803-b

To the Editor: Both Dr Verlinsky and colleagues1 and Dr Fost2 argue that in vitro fertilization (IVF) with preimplantation HLA matching poses no risk of creating a donor child with either DBA or acute leukemia. However, the procedure may inadvertently transfer unidentified DBA genes, as cases of DBA have now been identified in which the disorder is inherited from a parent with a "silent phenotype" in whom there are no hematologic or nonhematologic manifestations.3-5 These instances underscore the unpredictability of the disease and the possibility that what may appear to be sporadic mutations are actually inherited. This is further complicated in that later prenatal testing is not possible in those cases for which the responsible mutation remains unidentified. Therefore, preimplantation HLA testing to create a donor may inadvertently result in a child affected by the disorder. Indeed, neither article clarifies whether any of these 9 cases had been rejected by England's Human Fertilisation and Embryology Authority (HFEA).6 The HFEA had previously refused to license such a use of preimplantation testing because it was not also being used to rule out disease in the child being created and thus to confer medical benefit. Although the HFEA has recently revised its position to allow preimplantation testing solely to create a donor for a sick sibling,7 that does not address the problem of inadvertently creating a child with the sibling's disorder.