Table 2.
Result summary of knowledge score questions: percentage of participants that selected each answer choice
| Survey question | Answer choices | ||||
|---|---|---|---|---|---|
| Which of the following would raise suspicion for Fragile X premutation status and prompt further testing if a patient had no other remarkable personal or family history? Check all that apply: | Sister with unexplained infertility at 28 | Elevated FSH levels | Nephew with intellectual disability | Elevated estrogen levels | Elevated progesterone levels |
| 51% | 61% | 74% | 5% | 1% | |
| What reproductive counseling would you give to a female patient with an identified Fragile X premutation? Check all that apply: | Risk of having a child with intellectual disabilities | Risk for reduced fertility | Referral to genetics | Discuss pre-implantation genetic testing (PGT) | Test reproductive partner for carrier status |
| 85% | 80% | 91% | 57% | 36% | |
| What personal health risks would you discuss with a female patient with an identified Fragile X premutation? Check all that apply: | Mental health complications | Tremor and ataxia | Hot flashes and night sweats | Risk for blood clotting | There is no risk to personal health because it is not a full mutation |
| 49% | 35% | 55% | 12% | 19% | |
| How many CGG repeats in the FMR1 gene constitutes a premutation? | 5–44 | 45–54 | 55–200 | over 200 | |
| 15% | 20% | 56% | 8% | ||
Bolded responses are correct