The quality of evidence (I-III) and classification of recommendations (A-E) are defined at the end of the "Major Recommendations."
- Any testing for fragile X syndrome must occur only following thorough counselling and with the informed consent of the woman to be tested. (III-A)
- Fragile X testing is indicated for a woman with a family history of fragile X syndrome, fragile X tremor/ataxia syndrome, or premature ovarian failure (in more than one family member) if the pedigree structure indicates that she is at risk of inheriting the mutated gene. Referral to a medical geneticist for counselling and assessment should be considered in these cases. (II-2A)
- Fragile X testing is indicated for women who have a personal history of autism or mental retardation/developmental delay of an unknown etiology or who have at least one male relative with these conditions within a three-generation pedigree. (II-2A)
- Fragile X testing is indicated for women who have reproductive or fertility problems associated with an elevated level of follicle stimulating hormone before the age of 40. (III-A)
- Prenatal fetal testing via chorionic villus sampling or amniocentesis should be offered to women who are confirmed to be carriers of a premutation or full mutation of the fragile X gene (FMR-1). (II-2A) Pre-implantation genetic diagnosis is available as another reproductive option. (III-A)
- Population screening for fragile X syndrome for all women in the reproductive age-range is feasible. However, it should be considered only when there is a provincial/regional program that can test and adequately counsel the targeted population about the meaning and implications of the results. (II-2B)
Definitions
Quality of Evidence Assessment*
I: Evidence obtained from at least one properly designed randomized controlled trial.
II-1: Evidence obtained from well-designed controlled trials without randomization.
II-2: Evidence obtained from well-designed cohort (prospective or retrospective) or case–control analytic studies, preferably from more than one center or research group.
II-3: Evidence obtained from comparisons between times or places with or without the intervention. Dramatic results in uncontrolled experiments (such as the results of treatment with penicillin in the 1940s) could also be included in this category
III: Opinions of respected authorities, based on clinical experience, descriptive studies, or reports of expert committees.
Classification of Recommendations**
A. There is good evidence to recommend the clinical preventive action
B. There is fair evidence to recommend the clinical preventive action
C. The existing evidence is conflicting and does not allow to make a recommendation for or against use of the clinical preventive action; however, other factors may influence decision-making
D. There is fair evidence to recommend against the clinical preventive action
E. There is good evidence to recommend against the clinical preventive action
L. There is insufficient evidence (in quantity or quality) to make a recommendation; however, other factors may influence decision-making
*The quality of evidence reported in these guidelines has been adapted from The Evaluation of Evidence criteria described in the Canadian Task Force on Preventive Health Care.
**Recommendations included in these guidelines have been adapted from the Classification of Recommendations criteria described in the Canadian Task Force on Preventive Health Care.
