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Myriad Genetics Prenatal Screens

Rare diseases aren’t so rare

Rare Disease Day is observed on February 28 and is a globally-coordinated movement on rare diseases, working towards equity in social opportunity, healthcare and access to diagnosis and therapies for people living with a rare disease.1

  • 30 million2 people living with rare diseases in the U.S.
  • 3 in 10 children with a rare disease will not live to their 5th birthday2
  • 80% of rare diseases2 have identified genetic origins

Myriad Genetics Prenatal Screens

Rare diseases aren’t so rare

Rare Disease Day is observed on February 28 and is a globally-coordinated movement on rare diseases, working towards equity in social opportunity, healthcare and access to diagnosis and therapies for people living with a rare disease.1

  • 30 million2 people living with rare diseases in the U.S.
  • 3 in 10 children with a rare disease will not live to their 5th birthday2
  • 80% of rare diseases2 have identified genetic origins

Featured Video

Why Rare Disease Day is important

“We know that by sharing our genetic results, we were able to help guide genetic screening options for at least one relative undergoing a fertility journey.”
– Andrea Pirages, MS, Board-Certified Genetic Counselor



plays Why Rare Disease Day is so important videolightbox

Rare Disease Day resources

plays Long-term impact of rare disease: Time, finances and insurance coverage videolightbox

Foresight Patient Story

How spinal muscular atrophy (SMA) affects the Pantier Family

"The screening helped us develop a plan of action to get our child what he needed”
- Ashley Pantier, Mother and SMA carrier

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Article

February 28, 2023

Honoring those affected by rare diseases

Today is Rare Disease Day, which is celebrated on February 29th (the rarest of days), or on February 28th when it’s not a leap year. It’s a day to raise awareness about rare diseases…

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Article

February 16, 2023

New Guidelines Offer a More Equitable Approach to Carrier Screening

It’s quite common for diseases, or the risk to develop disease, to…

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Video

September 9, 2022

Long-term impact of rare disease: Time, finances and insurance coverage

Meet the Pantier family and learn more about their SMA journey.

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Article

September 9, 2022

Equitable Carrier Screening Strategies Provide Better Prenatal Risk-Detection for All Patients

Guide every parent-to-be with genetic insights from Myriad

Help patients of every background and BMI manage their pregnancies with screenings that offer the industry’s lowest failure rate.3

Through our Foresight® Carrier Screen and Prequel® Prenatal Screen, Myriad can help you create a roadmap for your patients’ family and pregnancy planning. Understanding their risk of passing an inherited condition to their baby or if their baby may be affected by a genetic condition is the first step.

Foresight® Carrier Screen product signature

Foresight® Carrier Screen detects a couple’s risk of passing down serious, inheritable health conditions to their child to guide informed planning and preparation.

  • Identify 1 in 22 couples at risk for pregnancies with serious, prevalent, or clinically-actionable inherited conditions
  • 99% detection rate across ethnicities for the vast majority of the 176 genes on our panel2
Prequel®Prenatal Screen product signature

Designed for everyone regardless of ancestry and BMI or ability to pay, the Prequel® Prenatal Screen can determine if a pregnancy is at an increased risk for a wide variety of chromosomal conditions as early as 10 weeks.

  • The only non-invasive prenatal screening (NIPS) that uses AMPLIFY™ technology
  • 99.9% result delivery on the first draw at 10 weeks1
  • Accessible and reliable for everybody, regardless of BMI, ancestry, or ability to pay
References:
  1. Rare Disease Day, What is Rare Disease Day? Retrieved February 2, 2023 from https://www.rarediseaseday.org/what-is-rare-disease-day/.
  2. Global Genes, Rare Disease Facts, https://globalgenes.org/participate/world-rare-disease-day/.
  3. Welker et al. High-throughput fetal fraction amplification increases analytical performance of noninvasive prenatal screening. Genet Med 23, 443–450 (2021).
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