Over the last two decades, genetics and genetic testing have become an increasingly important part of the IVF process.
What we can determine from the embryo and from the prospective parents, even prior to the creation of embryos, has grown exponentially. Exciting new technologies allow us to provide more options to patients experiencing difficulties such as recurrent miscarriage, repeated implantation failure and advanced maternal age. Also, patients who are at risk for specific inherited disorders such as Huntington’s disease, sickle cell disease, cystic fibrosis and Tay-Sachs disease can benefit from genetic testing of their embryos. Recently, a simple painless test has been developed to screen prospective parents for over 100 inherited diseases for which they may be carriers without their knowledge. Using one or more of these tests, couples can increase their chances of having a healthy baby.
The chromosomes in our bodies carry all of the information for making us who we are.
This information is contained within sites on the chromosomes and these sites are called genes. We get two copies of each gene, one from each of our parents. If there is an error in a gene, it is called a genetic mutation. Many people have genetic mutations of which they are unaware. In the case of recessive disorders, it is possible to not be affected by a genetic mutation for a specific disorder if only one copy of a gene has the mutation. In this situation, the person is a carrier for the disorder and the normal copy of the gene makes up for the mutated copy of the gene. Thus, there may be no adverse health effects of having just one copy of the mutation.
However, if both parents are carriers of the mutation , they are at risk for having a child with that disorder. Because this can happen in normally healthy couples, At Ovation Fertility Austin, we work with several companies that provide genetic testing for couples prior to their starting a family. This genetic test is done by simply using saliva from both prospective parents. If the results of this test indicate that the couple is at risk for a certain disease, they can choose to have their embryos tested for the presence of that gene mutation. The results of the tests performed on the embryos will indicate if the embryos will be affected with the disease, a carrier for the disease, or free from the mutation that causes the disease.