Objective: To give health care providers information about the genetic information that can be used as part of health surveillance for women undergoing a pre-conception evaluation for genetic risk assessment and possible genetic screening or testing.
Options: This genetic information can be used for patient education and possible prenatal testing.
Outcomes: The use of this genetic information may allow improved risk-benefit assessment for pre-conception counselling for individual patients and their families.
Evidence: PubMed or Medline and the Cochrane Database were searched in November 2009, using appropriate key words (pre-conception, genetic disease, maternal, family history, genetic health risk, genetic health surveillance, prenatal screening, prenatal diagnosis, birth defects, and teratogen). Grey (unpublished) literature was identified through searching the websites of health technology assessment and health technology assessment-related agencies, clinical practice guideline collections, and national and international medical specialty societies.
Benefits, harms, and costs: The benefits for the patient and her family include understanding of possible genetic risk and enhanced pregnancy outcomes. The harm includes increased anxiety or psychological stress associated with the possibility of identifying genetic risks.
Validation: The evidence obtained was reviewed by the Genetics Committee of the Society of Obstetricians and Gynaecologists of Canada. RECOMMENDATIONS AND SUMMARY STATEMENTS: A review of the current literature does not provide enough information for this committee opinion to present evidence-based recommendations.