INTRODUCING FIRSTGENE

One simple prenatal screen. Multiple actionable insights.

The FirstGene Multiple Prenatal Screen provides a streamlined option to bring together key insights with a single blood sample.

Multiple screens from a single sample

  • Patient Carrier Screen

    Assesses the carrier status of the pregnant individual for 11 recessive conditions with a >99% sensitivity and specificity.1

  • Fetal Aneuploidy Screen

    Fetal Aneuploidy Screen
Assesses fetal risk for aneuploidies without screening of the reproductive partner. Screen includes:

    • Trisomies 21, 13 and 18
    • Sex Chromosome aneuploidies
    • 22q11.2 microdeletion with sensitivity and specificity >99.1%1
  • Fetal Recessive Disease Screen

    Assesses fetal risk for the inheritance of 10 common, actionable conditions with a >98% detection for the majority of conditions across all ancestries.1 No paternal sample needed.

  • RhD Compatibility Screen

    Assesses RhD compatibility between the pregnant person and the fetus with 100% sensitivity and specificity for copy number 
variant calling.1

Change the way you screen with FirstGene

FirstGene delivers actionable genetic insights with a simple blood draw from your pregnant patient as early as 10 weeks gestation. No need for paternal screening. So you can support your patients with actionable insights, faster.

One report. Informed insights.

FirstGene brings it all together. One screen. One sample. One clear, cohesive report. Everything you need including patient carrier screening, fetal aneuploidy screening, fetal recessive disease screening, and RhD compatibility screening. All delivered in a single, integrated format designed to streamline your workflow and support faster, more comprehensive care.


ONE SAMPLE

ONE REPORT
  • Patient Carrier Screen
  • Fetal Aneuploidy Screen
  • Fetal Recessive Disease Screen
  • RhD Compatibility Screen

Help shape the future of prenatal care

Are you a prenatal care provider who offers carrier screening and pcfDNA? We’re looking to collaborate with clinical sites that offer these services. Through this study, you can help evaluate the impact of the FirstGene screen and bring more insights to prenatal care.

FirstGene Connector Study


Discover the data behind our validation

See the research and explore how the FirstGene screen is changing prenatal screening.

eposter #1914

Comprehensive prenatal cfDNA screening via simultaneous assessment of aneuploidy, single-gene conditions, and fetomaternal blood compatibility

Poster ID # PRE351

Validation of Fetal RHD Copy Number Calling in FirstGene, a Combined Non-Invasive Prenatal cfDNA Assay for Fetal Aneuploidy, Recessive Diseases, and Serological Screening

Poster ID # 7047T

Validation of Fetal and Maternal Spinal Muscular Atrophy (SMA) and Hemoglobin (Hb) Bart’s Screening with FirstGene, a Combined Non-Invasive Prenatal cfDNA Assay for Fetal Aneuploidy, Recessive Diseases, and Serological Screening

Poster ID # PRE348

Validation of Fetal Aneuploidy Detection with FirstGene: a Combined, Non-Invasive Prenatal cfDNA Assay for Fetal Aneuploidy, Recessive Diseases, and Serological Screening

Support is always within reach

Our board-certified genetic counselors are available to support both you and your patients after results are delivered.

Myriad will send a personalized cost estimate for each patient directly via email or text.

Comprehensive solutions for every stage of prenatal care

Knowledge early on means timely care and more options, and increased assurance in the decisions that matter most.

References:
  1. Wang JS, Battey CJ, Trettin K, Patel R, Gould GM, Muzzey D. Comprehensive prenatal cfDNA screening via simultaneous assessment of aneuploidy, single-gene conditions, and fetomaternal blood compatibility. Poster presented at: The American College of Obstetricians and Gynecologists Annual Meeting; May 2025; Minneapolis, MN.