Pre-Implantation
Genetic Testing

An abnormal number of chromosomes is one of the major contributors to spontaneous abortions (miscarriages) and may also explain some IVF implantation failures. For patients with known genetic diseases, translocations, or those who are “older” or suffer from recurrent miscarriages, pre-genetic testing can improve your chances of having a healthy baby by screening embryos for potential genetic abnormalities.

Another use of this technology is for “advanced maternal age” (generally defined as over age 34). As maternal age increases so does the incidence of chromosomal abnormalities, resulting in decreased fertility, an increased risk of miscarriage, and infants born with chromosomal abnormalities, such as Down Syndrome.

IVFMD offers the following pre-implantation genetic tests for embryos:

• PGD (Pre-Implantation Genetic Diagnosis) is a procedure that screens for and detects the presence of genes for specific diseases, such as Cystic Fibrosis, Spinal Muscular Atrophy, Sickle Cell Disease, Tay-Sachs and other genetic diseases in embryos. This test is especially important when one or both parents has a known genetic disease or is a carrier of a genetic disease. Prior to implantation, the embryos are analyzed so that only unaffected embryos are transferred.
• PGS (Pre-Genetic Screening) is when embryos are examined to determine if they have a normal number of chromosomes (which should be 46). The PGS technique allows our laboratory to select embryos that have the highest chance of having the correct number of chromosomes. There is preliminary evidence to suggest that aneuploidy screening (screening embryos for the normal number of chromosomes) in certain couples may improve their odds of a having successful pregnancy with IVF since:
  • Embryos selected have an improved potential for implantation, increasing likelihood of pregnancy.
  • Chosen embryos have a decreased rate of spontaneous loss, lessening the chances for miscarriage.
  • The chances of having a baby with chromosomal abnormalities are greatly reduced.

In both PGD and PGS, a micromanipulator and laser are used to remove a small sample of cells for analysis. Unlike prior methods of genetic testing, ALL chromosomes are analyzed (older technologies only examined a handful). Embryos that are free of selected genetic diseases or that possess the normal number of chromosomes can be selected for subsequent transfer.