Institute for Reproductive Medicine and Genetic Testing
Pioneer in Embryo Genetic Testing and Gender Selection
- Frequent Asked Questions - Table of Contents -
Preimplantation Genetic Diagnosis - PGD allows people with serious genetic disorders the chance to decrease the risk of passing the disorder to their child. PGD is a technique used during in vitro fertilization (IVF) to test embryos for genetic disorders prior to the embryos being implanted in the uterus.
During IVF, sperm and eggs are combined in the laboratory to form embryos. Embryos are grown for a period of about two to three days. Or, the third day, an embryologist uses microscopic instruments to carefully extract one cell from each embryo. A geneticist analyzes the cell and determines genetic abnormalities and the clinician then transfers healthy embryos to the uterus.
Genetic disorders are devastating to the child and the family. Most parents who are carriers of genetic disorders don't want to pass their disorder on to their children. Prior to PGD, parents were limited in their options and either took the risks of passing on the gene or chose adoption, embryo donation or surrogacy.
PGD is also tremendously helpful in increasing the success rate of the IVF process. Studies have shown that in couples having trouble conceiving, over half of the embryos are genetically defective. PGD will be a significant boon to routine IVF patients because the implantation of abnormal embryos will be eliminated, thus giving every embryo transferred a good chance of implanting. Since the embryologist has to pick three to four embryos for implantation during IVF, why not pick those that are the most viable?
People who are attempting to conceive when 35 years of age or above, or have a racial or ethnic association to specific diseases, familial association to specific diseases or experiencing continual miscarriages should consider PGD.
PGD increases the possibility for carriers of a genetic disorder to have a normal, healthy baby and it stops the transfer of genetic disorders from one generation to the next. PGD also increases chances of a successful IVF process since most miscarriages (about 50%) during this process occur because of abnormal embryos.
In addition, because genetic testing is done prior to pregnancy, PGD reduces the possibility of having to choose to terminate the pregnancy following a diagnosis of a probable genetic disorder.
PGD is used to test for single gene disorders like Cystic Fibrosis, chromosomal abnormalities such as Down Syndrome and gender linked disorders like Hemophilia A and certain cancers like Breast Cancer. The number of genetic disorders that can be screened depends on whether a disorder's corresponding gene marker has been identified.
Currently, we can test for about two dozen genetic disease including Huntington's Disease, Cystic Fibrosis, Tay Sachs Disease, Hemophilia A, Fragile X Syndrome, and Duchenne Muscular Dystrophy. In the near future, female ovum also can be checked for a gene that increases the propensity to develop breast and ovarian cancer.
Does Preimplantation Genetic Diagnosis - PGD eliminate the need for amniocentesis and other prenatal screening?
At this time, we still recommend amniocentesis and other prenatal tests. As embryo genetic testing improves we will eventually be able to eliminate prenatal tests like amniocentesis.
We can't cure the person with a genetic disorder, but we can hopefully stop genetic disorder from being transferred throughout generations and we have the opportunity to greatly reduce the number of children born with these devastating diseases. For instance, the general population has a 2% incidence of breast cancer. Half of these are accidental and half are genetic. PGD will help us to greatly reduce, if not completely eliminate the incidence of breast cancer by half, because we will prevent the transfer of the gene that causes genetic based breast cancer.
British physicians were the first to use PGD in 1989. Since then, there have been nearly 200 births resulting from this new technology.
Only a few clinics in the United States offer the PGD technology. The Institute for Reproductive Medicine and Genetic Testing is the first in the Western United States to offer this technology.
First, patients consult with us regarding their concerns. We then refer them to a genetic counselor who then evaluates their risk for passing on a genetic disorder. If necessary and if it hasn't already taken place, carrier testing is completed to determine specific genetic disease risks. If it is determined that they would benefit from PGD and if the couple or individual decide to go forward, we begin IVF and the subsequent PGD process.
Some people believe PGD is wrong because of its sex selection option gives individuals the chance to screen for gender-linked disorders like Hemophilia A. With hemophilia, PGD can eliminate all of the male embryos and allow the embryologist to implant only female embryos thus preventing the transmission of this disease.
The American Society of Reproductive Medicine's ethics committee addressed this issue and recommended that PGD for sex selection to prevent gender linked genetic disorders was appropriate.
The technology adds about $3,000 to the cost of in vitro fertilization.
Currently, insurance does not cover the test, however, we hope in the near future insurance providers will understand the preventive nature of these tests and cover the costs.
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