Why have preconception genetic testing?

We offer preconception genetic testing at our Virginia fertility center because it can provide important information that can guide intended parents as they choose a treatment path. Preconception genetic testing is optional, but it is valuable as a tool to help parents recognize and avoid the risk of passing on dangerous and devastating genetic conditions.

People of normal genetic makeup contain two copies of every gene—one inherited from their biological mother and one from their biological father. Inherited mutations on one of these genes can result in genetic disease. Some genetic diseases produce symptoms if one gene copy has the mutation associated with it. These are called dominant genetic diseases. If one parent has it, their child has a 50% chance of inheriting it.

Other genetic diseases can be carried on one of the gene copies and produce no symptoms in the parent. These are called recessive genetic diseases, and parents with one of these genes are considered carriers of that disease. When two carriers of the same disease have a child, the child has a 25% chance of inheriting the diseased copy of the gene from both parents. If the child inherits both copies, they will have the disease. Unfortunately, some recessive genetic diseases, like Tay-Sachs and spinal muscular atrophy (SMA), can result in lifelong disability or death.

How preconception genetic testing works

At our Virginia fertility center, we offer preconception genetic testing that is based on risk factors for inherited genetic diseases. The human genome is very large, so we base our testing on the most likely diseases to be passed down based on family history and ethnicity. Our testing proceeds as follows.

• Thorough medical history. Based on a patient’s family medical history, our providers may recommend testing for specific disorders and refer patients to outside genetic labs.
• Genetic counseling. Prior to testing, the genetic testing labs that we contract with offer free genetic counseling over the phone.
• Testing. The labs use blood samples from one parent or both to determine the risk factor for passing on the genetic diseases that are targeted in the test panel.
• Genetic counseling. If the results show that the intended parents have an increased risk of passing on a genetic disorder, the laboratories offer additional genetic counseling.

We support our patients’ right to use the information they receive from genetic testing to make their own decisions about treatment going forward.

After preconception genetic testing

Once our Virginia fertility center providers receive the results of hopeful parents’ genetic tests, we can work to tailor treatments to avoid inherited diseases. IVF cycles with preconception genetic testing can help parents have biological children while avoiding devastating inherited diseases. We understand the emotional challenges that can go along with an adverse result from these tests and are here to support patients throughout the treatment process.

To learn more about preconception genetic testing or to begin treatment, please contact us.