The Preimplantation Genetic Diagnosis Process

Understanding the preimplantation genetic diagnosis process

If you or your partner has a family history of genetic illness, planning for parenthood can come with worries of passing a heritable disorder down to your children. The preimplantation genetic diagnosis process can help ensure that your children will be free from genetic illness.

Geneticists can test embryos for more than 1,000 genetic illnesses, including spinal muscular atrophy (SMA), cystic fibrosis, Tay Sachs, thalassemia, sickle cell disease, hemophilia and fragile-X. Be sure to discuss preimplantation genetic diagnosis with our Louisiana fertility doctors if these or any other genetic disorders exist in your or your partner’s families.

About embryo biopsy and the preimplantation genetic diagnosis process

In addition to the basic in vitro fertilization (IVF), our Louisiana fertility centers offer the preimplantation genetic diagnosis process in certain situations.

  • You or your partner is affected by a known genetic illness
  • You or your partner carries a genetic illness
  • You want to do everything possible to protect your future children from a specific heritable disease

After your embryos are created through IVF and grow in the IVF laboratory at our Louisiana fertility centers for several days, a few cells are extracted through embryo biopsy. To extract the cells, a skilled embryologist uses a laser to carefully make a tiny hole in the outer shell of each embryo that has reached the blastocyst stage. Embryo biopsy is typically performed on Day 5, 6 or 7 of development in the lab.

Through this hole, a few of the embryo’s cells are removed and sent to a specialized genetics laboratory. Your embryos are then cryopreserved while you wait for the results. The biopsy process doesn’t harm the embryos because hundreds of cells are already present at this stage.

At the genetics lab, specialists will check to be sure that each embryo has the correct number of chromosomes, using a process known as preimplantation genetic screening. The preimplantation genetic diagnosis process takes genetic screening a step further by looking for the specific gene associated with the genetic disease you’re concerned about.

First, the geneticist uses enzymes to separate the DNA sequence that contains the gene in question. Then, millions of copies of that strand of DNA are duplicated, using a process called polymerase chain reaction. This allows enough DNA to be produced for a specific gene to be detected using a targeted probe.

For each embryo, you’ll receive information about the genetics – specifically if it is chromosomally normal and whether the gene for the specific disease you’re looking for is present. This allows you and your fertility specialist to ensure that only genetically normal embryos are transferred to the uterus to achieve a pregnancy, virtually eliminating the risk that your baby will be affected by the heritable disease.

Learn more about preimplantation genetic diagnosis

Because some chromosomal disorders can cause embryos to fail to implant or develop, preimplantation genetic diagnosis can also improve your chances of achieving pregnancy through single embryo transfer, reducing the risk of having multiple babies at once.

To learn more about the preimplantation genetic diagnosis process, contact our Louisiana fertility centers to schedule a consultation.