Preimplantation genetic diagnosis for HLA typing in a case of X-linked chronic granulomatous disease

Bone marrow transplantation may be life saving in cases of hematopoietic disease, severe congenital immunodeficiency or malignancy. An HLA-matching sibling often gives the best success, but this may not be an option, nor may an HLA-matching unrelated donor be found. Preimplantation genetic diagnosis with HLA-matching embryos may then be a solution. We report the first Danish child born after such diagnosis with identification of healthy embryos and HLA matching for a sibling with chronic granulomatous disease. Our patient had 13 in vitro fertilization (IVF) cycles; 286 oocytes were collected and 74 embryos analysed. Sixteen of these (22%) were either healthy or carriers. Five embryos were transferred in four stimulated fresh IVF cycles. Four embryos were frozen, and two were later transferred. Two successive clinical pregnancies ensued. In the first, prenatal diagnosis revealed trisomy 21, and the fetus was aborted. In the second pregnancy, chorionic villus sampling revealed a normal karyotype, the diagnosis was confirmed, and the pregnancy was normal. At delivery, 82 mL of cord blood was collected for later transplantation to the diseased sibling.