Preventing Genetic Diseases And Disorders
Preimplantation genetic diagnosis (PGD) is a genetic testing procedure performed before implantation to detect genetic defects within embryos. PGD helps prevent certain genetic diseases or disorders from being passed on to the child. This can be a valuable testing option for couples who have a genetic abnormality.

What happens during PGD?
Embryos created through in vitro fertilization (IVF) are fertilized in a laboratory and allowed to grow over 3-5 days. When the embryos divide into multiple cells, fertility specialists microsurgically remove and freeze a few cells.
Once extracted, the embryo cells are evaluated to identify an inherited gene abnormality. The process can take up to a week. After a specialist has determined the embryo cells are healthy, the embryos are placed in the uterus via IVF. Affected embryos are discarded, while embryos free of genetic problems are frozen for later use if needed.
Who should consider PGD?
PGD can benefit many couples looking to start a family. Individuals who carry a sex-linked genetic, single-gene, or chromosomal disorder are ideal candidates for the testing. Women over the age of 35 or women who have had trouble with fertility treatment or pregnancy can benefit from PGD. The process has also been used to determine the gender of the embryo.
Pros and cons
PGD can identify more than 100 different genetic conditions and gives couples hope that the child won’t have an inherited disease. PGD can detect inherited disorders such as cystic fibrosis, Tay-Sachs disease, Fragile X syndrome, myotonic dystrophy, and more. PGD can, however, be a long and costly process. PGD can cost anywhere between $5,000-$10,000.
What about preimplantation genetic screening?
Couples considering starting a family can use genetic testing to determine the child’s future health. Preimplantation genetic screening (PGS) is a procedure used to determine if the embryo contains a healthy amount of chromosomes. After the embryo is fertilized in a lab setting, the embryo is biopsied on day five. Embryos with an abnormal number of cells are aneuploid.
Talk with a genetic counselor
Genetic counselors can help couples determine which genetic tests are beneficial depending on the situation. Genetic counselors can review a couple’s medical and familial history to identify any possible genetic problems. Counselors can go over the pros and cons of each procedure so couples can be more informed about the genetic testing procedures. To learn more, schedule an appointment with a fertility specialist.