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Fragile X screening with HorizonTM

Fragile X syndrome is the most common inherited cause of intellectual differences. Carriers can also experience symptoms, such as infertility, diminished ovarian reserve, and shortened reproductive life span.

Carrier screening for fragile X can identify your patients’ risk of having an affected child and provide insight into their own health. Horizon provides an accurate fragile X risk assessment.

A Fresh Perspective on DNA

Catch a Sneak Peek of Vanessa’s Story

In this 2-minute video, Vanessa explains how she was able to have the big family she always dreamt of, even after learning that she is a carrier of fragile X.

“We knew each child I was going to have [could] have this same disorder. When we found out about PGT, it was a game changer. PGT gave us the dream of a big family back.”


A mother who received carrier screening while pregnant with her second child

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A Future to Shape: Shortening the Path to a Fragile X Diagnosis

Listen to Vanessa, whose first son was diagnosed with fragile X while she was pregnant with her second and went on to have three healthy sons, and Dr. Deby Barbouth, a geneticist who leads an interdisciplinary team focused on treating children with fragile X. They will discuss how carrier screening can shorten the path to diagnosis and inform later reproductive decisions.

  • Vanessa Chartouni-de la Serna, PhD
    Fragile X carrier and mother of 4 boys; Miami, FL
  • Deborah Barbouth, MD
    Pediatric geneticist at the South Florida Fragile X Clinic, University of Miami, FL

Learn More About Horizon

All carrier screening is not equal, and choosing the right test for your patients is critical. Horizon provides an accurate fragile X risk assessment by including AGG reflex testing. Learn how Horizon leverages advanced technology and unmatched support to help you and your patients.

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