Genetic Screening & Counseling

Genetic screening can provide important information about potential risks for a future pregnancy. Genetic screening tests tell us if you or your partner/donor carry or are at risk of carrying a certain genetic trait that could put you at higher risk for having a baby with a genetic disease or syndrome. People who carry genes for these disorders usually do not have symptoms. Most can only be inherited if both parents are carriers, whereas others can be passed on if only one parent carries the gene.

Genetic screening (or carrier testing) involves checking to see if you or your partner/donor carries a copy of an abnormal gene that can put you at risk for having a child with a specific disorder. This is usually done by a blood test. The number of conditions for which testing is possible is rapidly increasing, although it is not possible to test for all genetic conditions. Also, the implications of having a genetic disorder can vary. Some disorders cause severe problems, whereas others may be quite mild. The decision to have carrier testing is a personal one made after understanding and carefully considering the options. A genetic counselor is available to answer any questions you might have, and will discuss any abnormal results with you. 

There are several genetic tests we routinely offer to all patients. Some others may be desired if you belong to an ethnic group in which a particular disease is more common, or if you have a family history suggestive of disease. Please review our information sheet and tell your doctor or nurse if you would like to arrange carrier screening for any conditions listed or if you have further questions. A helpful website for reviewing screening options both before and during pregnancy is My Testing Options.

Genetic Counseling

Genetic counseling is available while you are planning a pregnancy, to help you and your partner understand your options, including whether to proceed with genetic testing or determine which reproductive options are right for you. The service is provided by a counselor trained in medical genetics and counseling. She can help you determine if you want further testing and, if so, which test is appropriate. Additional counseling is available for patients who receive abnormal results.

During a genetic counseling session, the genetic counselor creates a family tree, discusses the genetic risk(s) of a planned pregnancy based on your medical information and the family history information you provide, discusses any genetic conditions or risks identified in your family, and discusses standard tests and procedure options based on the genetic risks identified. Patients may be referred for genetic counseling for various reasons. You may be referred for genetic counseling if you:

  • are interested in pursuing pre-implantation genetic diagnosis (PGD)
  • have had two or more pregnancy losses or a specific fertility diagnosis
  • have a family history of an inherited disorder, birth defect or mental retardation
  • have concerns about a disease or condition that runs in the family
  • have abnormal results from a screening test, or have questions about carrier screening
  • have questions about the genetic risks associated with fertility treatment
  • have questions about prenatal testing options

If you are interested in genetic counseling, please contact our Genetic Councelors at (415) 51405849 to set up an appointment.