Preimplantation Genetic Diagnosis

Embryos created by IVF (In Vitro Fertilisation)can be tested for some genetic disorders before embryo transfer takes place.

Embryo biopsy and preimplantation genetic diagnosisOne or two blastomere (cells) are taken from an embryo after cleavage has progressed to beyond the eight cell stage, or (more recently) groups of cells are removed from the trophoblast cells of the blastocyst stage - taking more cells improves the accuracy of the procedure.

Those cells removed are analyzed using either polymerase chase reaction (PCR) procedures or fluorescence in situ hybridization (FISH) techniques after amplification of the genetic material. The procedure can be carried out in a matter of hours enabling decisions by the 'parents' as to which embryos should be transferred.

So far such procedures have been carried out to diagnose the sex of the fetus, aneuploidy (wrong chromosome numbers) Cystic fibrosis, Tay Sachs disease, Duchene muscular dystrophy, Lesch-Nyhan syndrome. As more gene marker become available other disorders may soon be diagnosed.

Some groups have questioned whether such procedures are ethically acceptable particularly where sex selection was concerned. A recent report suggested that it was in carefully defined circumstances:-

Using preimplantation genetic diagnosis to determine the sex of an embryo conceived by IVF is ethically acceptable, but only if the aim is to avoid the transmission of genetic disorders, according to the ethics committee of the American Society for Reproductive Medicine. This is the only reason for choosing the sex of children that avoids the potential of "gender bias," the panel says in the October issue of Fertility and Sterility. The panel's report focuses on the use of preimplantation genetic diagnosis for sex selection. Although the practice is rare, they note "...the increasing attractiveness of pregnancy sex selection..." to some individuals compared with other methods of sex selection, such as abortion. According to a press release from the American Society for Reproductive Medicine, "this Ethics Committee Statement supports the use of preimplantation genetic diagnosis and sex selection to prevent the transmission of genetic diseases and discourages use of this technology for nonmedical family balancing or family planning purposes." Fertil Steril 1999;72:595-598