Genetic Screening Tests
Genetic screening can provide important information about potential risks for a future pregnancy. Genetic screening tests tell us, if you 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 carry 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 counsellor 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 only be desired if you belong to an ethnic group in which the disease is more common, or if you have a family history suggestive of disease.
Genetic Counseling
Genetic counselling 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 counsellor trained in medical genetics and counselling. She can help you determine if you want further testing and, if so, which test is appropriate. Additional counselling is available for patients who receive abnormal results.
During a genetic counselling session, the genetic counsellor will generally create a family tree, discuss the genetic risk(s) of a planned pregnancy based on your medical information and the family history information you provide, discuss any genetic conditions or risks identified in your family, and discuss standard tests and procedure options based on the genetic risks identified.
Patients may be referred for genetic counselling for various reasons. You may be referred for genetic counselling if you:
- are interested in pursuing PGD
- have had two or more pregnancy losses or a specific fertility diagnosis
- you had a lot of failed efforts of in vitro fertilized insemination
- you had previous pregnancy with chromosomal abnormality
- 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
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have questions about prenatal testing options
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