Preimplantation genetic diagnosis (PGD) is a procedure used during fertility treatments to help identify genetic defects within embryos. This serves to prevent certain genetic diseases, such as GACI, from being passed on to the child. The embryos used in PGD are created during the process of in vitro fertilization (IVF). IVF with PGD can benefit any parents at risk of passing on a genetic disease.
What does the process look like?
In the beginning, both parents supply a DNA sample via a cheek/mouth swab. This, along with already acquired genetic testing reports, helps to create the exact test that will be used to identify healthy embryos vs. embryos with genetic defects. Once the test is created, which can take several weeks to months, the parents will begin the process of IVF which includes egg retrieval and fertilization in a laboratory. Over the next 3 to 5 days, the embryos will divide into multiple cells. Around day 5, a couple of cells are microsurgically removed from the embryos. After this cell collection, the embryos are frozen. The DNA of the embryos is then evaluated to determine if the inheritance of the ENPP1 or ABCC6 mutations are present in each embryo. This process takes at least one full week. Once PGD has identified embryos free of the genetic disease, the embryos will be thawed and transferred to the woman’s uterus and the wait for implantation and a positive pregnancy test begins. Any additional embryos that are free of genetic mutations are kept frozen for possible later use.
Getting from the egg retrieval process to the final results of PGD can take several weeks. This process includes collection, fertilization, 3-5 days of development, 1-2 weeks of testing, and scheduling an appointment to discuss the results with your doctor.
If you are interested in pursuing IVF with PGD, talk to your doctor, genetic counselor, or fertility specialist to discuss your options. To connect with a family who has gone through the IVF with PGD process, please contact GACI Global at firstname.lastname@example.org.