The true impact of fragile X syndrome

How often are women carriers of fragile X syndrome? Results from an exceptionally large, ethnically-diverse population.

There has been limited data published on population-wide carrier testing for FXS, and this has meant conservative criteria for identifying women who should be offered testing.

We studied a large, ethnically-diverse patient population of >130,000 women to help fill in this gap.

What did we find?

  • About 1 in 200 women are carriers of a FXS premuation.1
  • This means providers are 2 to 4X more likely to deliver a baby with FXS than with SMA.
  • This also means providers are equally as likely to deliver a baby with FXS as with CF.

FMR1 Article Thumbnail


This research was published in the American Journal of Medical Genetics (Mar. 2018).

Read the manuscript

Kailey Owens - Progenity MSL

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


  1. Owens KM, et al. FMR1 premutation frequency in a large, ethnically diverse population referred for carrier testing. Am J Med Genet A. 2018 Jun;176(6):1304-1308.