We provide genetic counselling to couples prior to conception and throughout pregnancy. The goal of reproductive counselling is to provide patients with information to help them make the best decision possible. For some couples this may mean deciding to have carrier testing for a known genetic condition in the family or a condition that is common in their ethnic group.  For others, decisions may need to be made regarding prenatal diagnosis for which we review the benefits and limitations of tests such as chorionic villus sampling (CVS) and amniocentesis. 

We encourage physicians to refer patients either prior to conception or at the earliest possible time in pregnancy. Some genetic tests can take at minimum a few weeks to complete. Knowing a patient’s family history allows you to discuss the option of genetic counselling in advance and gives the patient time to make the best decisions given his or her circumstances.

Examples of who to refer for preconception/prenatal genetic counselling include:

• women who will be 40 years of age or older at the time of delivery*
• individuals with a personal or family history of a genetic or chromosomal disorder
• individuals with a family history of birth defects or unexplained intellectual disability or developmental delay
• women with teratogenic exposures in pregnancy
• women with a disease that could cause birth defects such as diabetes or phenylketonuria (PKU)
• women who have an abnormal ultrasound
• couples experiencing infertility
• individuals from an at-risk ethnic group such as Ashkenazi Jewish, Asian, Mediterranean, African
• couples who are blood related to each other

* Due to limited staff, we may not be able to offer this service.

Fundamentals of Effective Prenatal Referrals

• Timeliness – keep patient’s options open – refer early!! Some prenatal test results can take 6-8 weeks, even when expedited.
• Thoroughness of previous investigations – appointments require significant preparation; please provide copies of all relevant investigations.
• In order to confirm a diagnosis please provide names of affected individuals and relevant medical records.