Preimplantation genetic diagnosis

Preimplantation genetic diagnosis is a technique used to identify embryos with chromosomal or genetic disorders so they are not transferred. It can also be used for sex selection.

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PGD was first performed in 1989. It was originally developed for couples who know they are carriers of genetic disorders and want to be sure they aren't passing the bad genes on to their children. This procedure has made it possible for couples with serious genetic disorders to decrease the risk of having an affected child. Examples of disorders that are caused by a single genetic defect, and thus easy to test for, are cystic fibrosis, Tay-Sachs disease, and hemophilia. Most disorders have more complex causes and cannot be identified with PGD. Only a few labs are able to do the single-gene testing, but many clinics send their samples to those labs. It is important to remember that not all disorders can be diagnosed with this technique and that further genetic testing may be recommended.

PGD can also be used to test for aneuploidy (extra or missing chromosomes), which can occur randomly in nature and increases with maternal age. Down syndrome is an example of aneuploidy; it results when an embryo has three copies of a particular chromosome instead of two. Aneuploidy is the most common cause of miscarriage, so women who have had multiple miscarriages may want to do PGD for aneuploidy.

On the third day of development in the lab, when an embryo has six to eight cells, a single cell is removed from each embryo and analyzed for the presence of genetic disorders. Test results come back a day or two later; only embryos without the genetic abnormality are placed in the woman's uterus.