Preimplantation genetic diagnosis for X-linked agammaglobulinemia: a case report

Objective To report the first clinical experience of preimplantation genetic diagnosis (PGD) for X-linked agammaglobulinemia (XLA), which resulted from a point mutation in Bruton's tyrosine kinase (BTK) gene. Design Case report. Setting Clinical IVF laboratory. Patient(s) A couple carrying BTK gene mutation (c.832C>T) that is associated with XLA. Intervention(s) Day 3 embryos, obtained by IVF with intracytoplasmic sperm injection, underwent blastomere biopsy and DNA testing via nest polymerase chain reaction and restriction enzyme analysis to detect the presence of a maternal BTK mutation. Main Outcome Measure(s) Successful PGD for a BTK gene mutation and transfer of healthy embryos. Result(s) The patient received two PGD cycles. In total, 19 oocytes were fertilized, 15 embryos were suitable for embryo biopsy, 6 were diagnosed as unaffected, 6 were carriers, 2 were mutant, and the remaining 1 did not provide any diagnosis. In two treatment cycles, two ETs of three embryos each were performed. Unfortunately no pregnancy was achieved. Conclusion(s) We are the first to report a case of PGD for XLA. The result indicates that PGD is feasible for this genetic disease and may represent a viable alternative to prenatal diagnosis with the subsequent option of terminating an affected pregnancy.