Couples who have a history of infertility or a family history of an inheritable genetic defect may choose to undergo preimplantation genetic diagnosis (PGD) testing as a part of the IVF process. During PGD testing, the embryologist removes one or two cells from the developing embryo, then examines them for genetic abnormalities. PGD is very reliable, but it is not possible to screen for every potential illness.‍

How PGD Works

During IVF, embryos mature in the laboratory for 5 days, until they reach the blastocyst stage and are transferred to the uterus. The embryologist can biopsy the embryos at several points during their development. The embryologist will examine the cells to ensure that the correct number of chromosomes is present. It is also possible to run tests for specific genes, such as the gene for cystic fibrosis or sickle cell anemia, as well as for a chromosomal problem called translocation. Together, these tests can screen for the most likely genetic problems.

Reliability of PGD Testing

Because PGD allows the embryologist to actually examine the chromosomes and to test for the presence of specific genetic abnormalities, it is a highly reliable indicator of the specific conditions for which screening is performed. Unlike tests such as amniotic fluid testing to screen for Down syndrome, PGD allows the doctor to actually examine the genetic material of the embryo. Inaccurate results from PGD are rare.

‍Birth Defects are Still Possible

‍PGD testing is valuable for screening for chromosomal abnormalities and specific genetic diseases that are connected to a single gene. It is not possible or reasonable to screen every single gene. In addition, a number of genetic defects are connected to several genes, or a specific gene has not been identified. In addition, some problems can develop during pregnancy as a result of uterine conditions, or during childbirth.

This means that, while PGD is a great tool for couples who have a history of infertility or who need to screen for specific diseases, it is not foolproof. PGD is only effective at screening for certain diseases, so it is still possible for the baby to have problems. However, the chances are greatly reduced.Dr. Randy Morris would be happy to meet with you about treatment for your infertility. To schedule your consultation today, please click below and enter your information or call IVF1 at (630) 357-6540.