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. 2024 Dec 6;42(2):499–508. doi: 10.1007/s10815-024-03337-w

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