PGD diagnoses genetic disease in embryos
Advances in the study of the human genome have allowed researchers to link genetic diseases to specific genes. In PGD, or preimplantation genetic diagnosis, embryologists examine the genes of an embryo before it is transferred to a woman’s uterus, ensuring that the embryo does not carry a specific genetic defect.
Depending on your situation, our Newport Beach fertility center may recommend one of two types of genetic testing of embryos:
- Preimplantation genetic screening (PGS)
- Preimplantation genetic diagnosis (PGD)
The goal of both types of testing is to avoid transferring chromosomally abnormal embryos and increase the chances of having a successful pregnancy and healthy child. Both types of tests require the removal of a few cells, or biopsy, from each embryo created through IVF. Using these cells, PGS essentially counts chromosomes, making sure the correct number of chromosomes is present. In PGD, embryologists examine the chromosomes even more closely, looking for a specific gene that is associated with a specific heritable disease.
Who needs PGD?
In PGD, genetic testing of embryos focuses on a known disease such as cystic fibrosis (CF), spinal muscular atrophy (SMA), Tay-Sachs, hemophilia or sickle cell disease. Because the testing is disease-specific, PGD is recommended for people who are known or suspected carriers of a specific genetic disease, including:
- People who have been diagnosed with a known genetic disease
- People who are confirmed to be carriers of a specific genetic disease
- People who know that a genetic disease runs in their family, but aren’t sure if they are carriers
- People whose personal genetic screening has revealed a risk of passing along a genetic disease
Embryo biopsy is not without minimal risk of damage to the embryo, but the potential benefits far outweigh this risk for most people concerned about bringing a child into the world who will suffer from a lifelong medical condition.
Because genetically normal embryos are more likely to implant and develop into a healthy baby, PGD also makes it possible to achieve high pregnancy rates with single embryo transfer, reducing the risks involved with twin or triplet pregnancies.
It doesn’t have to run in your family anymore
By using PGD to genetically test your embryos prior to transfer, you can break the chain of heritable diseases that may run in your or your partner’s family. Transferring only genetically normal embryos can also spare you heartbreak and ethically difficult decisions should prenatal testing later determine that you are carrying a baby with a genetic defect that could affect his or her quality of life.
To learn more about genetic embryo testing or PGD, contact us to schedule a consultation at our Newport Beach fertility center.