Preimplantation HLA typing with aneuploidy testing.

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.

Preimplantation genetic diagnosis for polycystic kidney disease.

Objective: To use preimplantation genetic diagnosis for achieving a polycystic kidney disease (PKD)-free pregnancy for a couple in which the female partner was affected by PKD but whose PKD1 or PKD2 carrier status was not established.

Design: Case report.

Setting: The IVF program of Reproductive Genetics Institute, Chicago, Illinois.

Preimplantation genetic diagnosis for the Kell genotype.

Objective: To use preimplantation genetic diagnosis (PGD) to achieve a Kell 1 (K1) allele-free pregnancy in couples at risk for producing a child with hemolytic disease of the newborn (HDN) caused by maternofetal incompatibility in sensitized mothers.

Design: DNA analysis of biopsied blastomeres from cleavage-stage embryos in IVF-ET with the goal of identifying and transferring back to patients the K1 allele-free embryos.

Setting: IVF program at the Reproductive Genetics Institute, Chicago, Illinois, and IVF Michigan, Rochester Hills, Michigan.

Preimplantation genetic diagnosis for cancer predisposition.

Preimplantation genetic diagnosis (PGD) has recently been offered for couples with an inherited predisposition for late onset disorders. This paper presents the results of PGD for a group of couples at risk for producing children with cancer predisposition. Using a standard IVF procedure, oocytes or embryos were tested for different mutations predisposing to cancer, preselecting and transferring only mutation-free embryos back to the patients.