Preconception Genetic Screening

Preconception screening takes place prior to pregnancy. There are a number of situations where women might consider preconception screening. While the extent of preconception screening in Canada is unknown, the Society of Obstetrician and Gynaecologists of Canada provides guidelines for taking a preconception history for assessment and counselling.

Reasons for Preconception Screening
• Family history of an inherited disorder (e.g., a familial chromosome rearrangement).
• Diagnosis during in vitro fertilization prior to implantation.
• Diagnosis prior to artificial insemination.
• People from a specific ethnic group (e.g., thalassemia in people of Mediterranean and Southeast Asian descent or Tay-Sachs in Jewish persons of Eastern European descent).


The Society of Obstetricians and Gynaecologists of Canada warns that there is not enough evidence about preconception genetic risk assessment, screening, and testing to provide a conclusive guide for its use among healthcare providers.1 The Society highlights that developing new tests may create new challenges, such as inviting genetic discrimination in applying for medical insurance.

1Wilson RD. Genetic Considerations for a Woman’s Pre-conception Evaluation. SOGC Committee Opinion No. 253, January 2011.