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Genetic Testing

Genetic testing concerning pregnancy can be broken down into two categories: screening and diagnostic.

What is genetic testing during pregnancy?

Genetic testing during pregnancy can be broken down into two categories: screening and diagnostic.

  • Screening is recommended to couples who may be at risk to pass on inherited diseases to the fetus (i.e., cystic fibrosis, sickle cell anemia).
  • Diagnostic tests can be given to confirm that a genetic disorder is present if that information is deemed important to you.

Which genetic tests are available during pregnancy?

You can schedule a genetic carrier screening test before or during pregnancy, but they are the most useful beforehand.

If you have a gene for a disorder, but you do not have the condition yourself, you are a carrier. Genetic carrier testing will notify you and your partner if you have these genes and the chance you will pass them on to your children.

  • During a genetic carrier test, you will give a blood or saliva sample.
  • The sample is sent off to a lab and is tested for genes for many types of disorders.
  • These disorders include cystic fibrosis, spinal muscular atrophy, sickle cell disease, Tay-Sachs disease, and fragile X syndrome.

What can I expect during my appointment?

Genetic testing varies due to different medical and family histories. We recommend that you start with a comprehensive consultation. During your consultation with Dr. Stanley, she will provide you with information and make you feel fully prepared to make decisions that are right for you and your family.

If you are interested in genetic testing, call (352) 404-5544 or fill out the form below to request your consultation online.