Are fragile X premutations more common in women with infertility?

The association between fragile X premutations and primary ovarian insufficiency made us wonder. Now we know the answer is “Yes.”

There are limited data regarding the prevalence of fragile X premutation carrier status among women seeking fertility treatment, despite the association of carrier status with primary ovarian insufficiency.

For >200,000 women, we compared the prevalence of different sized FMR1 repeat alleles among women seeking fertility treatment compared to a control population of patients referred from elsewhere.

What did we find?

  • 1 in 211 women in the control population were premutation carriers (55-200 CGG repeats).1
  • 1 in 141 women referred from reproductive medicine were premutation carriers.1
  • This means a reproductive medicine patient is significantly more likely (p<0.005) to be a premutation carrier than a patient referred from non-reproductive specialist.1


This research was presented at the 2018 American Society of Reproductive Medicine (ASRM) scientific congress.

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  1. Allen et al. Prevalence of fragile X premutation carriers among female patients seeking fertility treatments. Poster presented at ASRM 2018. Denver, Colorado.