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

Poster

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

Download the poster

Have questions?

Dive deeper on how this research uniquely impacts your practice by contacting us. We’ll give you direct access to our researchers.

Email us

References

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

Support