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.

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Multiple screens from a single sample

FirstGene Multiple Prenatal Screen FirstGene Multiple Prenatal Screen
  • Patient Carrier Screen

    Assesses the carrier status of the pregnant individual for 11 recessive conditions with a >99% sensitivity and up to 100% specificity.1

  • Fetal Aneuploidy Screen

    Assesses fetal risk for common and serious aneuploidies with up to 100%1 sensitivity and >99%1 specificity, 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 >99% detection rate for the majority of conditions.1 No paternal sample needed.

  • RhD Compatibility Screen

    Assesses RhD compatibility between the pregnant person and the fetus with up to 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.

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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

Comprehensive all-in-one report

Learn more about FirstGene®

FirstGene Connector Study


Contact Information

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

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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

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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

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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

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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 S et al. Comprehensive prenatal cfDNA screening via simultaneous assessment of aneuploidy, single-gene conditions, and fetomaternal blood compatibility. Clin Chem. February 18, 2026.
  2. de Graaf G, et al. Estimates of the live births, natural losses, and elective terminations with Down syndrome in the United States. Am J Med Genet A. 2015;167A(4):756-767. doi:10.1002/ajmg.a.37001.
  3. Mai CT, et al. National population-based estimates for Major Birth Defects, 2010–2014. Birth Defects Res. 2019;111(18):1420-1435. doi:10.1002/bdr2.1589.
  4. Goel N, et al. Trisomy 13 and 18—prevalence and mortality—a multi‑registry population‑based analysis. Am J Med Genet A. 2019;179(12):2382-2392. doi:10.1002/ajmg.a.61365.
  5. Samango-Sprouse C, et al. Incidence of X and Y chromosomal aneuploidy in a large child‑bearing population. PLOS ONE. 2016;11(8). doi:10.1371/journal.pone.0161045.
  6. Oskarsdottir S. Incidence and prevalence of the 22q11 deletion syndrome: A population‑based study in western Sweden. Arch Dis Child. 2004;89(2):148-151. doi:10.1136/adc.2003.026880.
  7. Moise K. Management of Rhesus Alloimmunization in pregnancy. Obstet Gynecol. 2002;100(3):600-611. doi:10.1016/s0029-7844(02)02180-4.
  8. Moise KJ. Management of Rhesus Alloimmunization in pregnancy. Obstet Gynecol. 2008;112(1):164-176. doi:10.1097/aog.0b013e31817d453c.
  9. Scotet V, et al. The changing epidemiology of cystic fibrosis: Incidence, survival and impact of the CFTR Gene Discovery. Genes. 2020;11(6):589. doi:10.3390/genes11060589.
  10. Kosorok MR, et al. The incidence of cystic fibrosis. Stat Med. 1996;15(5):449-462. doi:10.1002/(SICI)1097-0258(19960315)15:5<449::AID-SIM173>3.0.CO;2-X.
  11. O’Sullivan BP, Freedman SD. Cystic fibrosis. The Lancet. 2009;373(9678):1891-1904. doi:10.1016/s0140-6736(09)60327-5.
  12. Verhaart IE, et al. Prevalence, incidence and carrier frequency of 5q‑linked spinal muscular atrophy – a literature review. Orphanet J Rare Dis. 2017;12(1). doi:10.1186/s13023-017-0671-8.
  13. Hassell KL. Population estimates of sickle cell disease in the U.S. Am J Prev Med. 2010;38(4). doi:10.1016/j.amepre.2009.12.022.
  14. Galanello R, et al. Beta‑thalassemia. Orphanet J Rare Dis. 2010;5(1). doi:10.1186/1750-1172-5-11.
  15. Hunter J, et al. Epidemiology of Fragile X Syndrome: A systematic review and meta‑analysis. Am J Med Genet A. 2014;164(7):1648-1658. doi:10.1002/ajmg.a.36511.
  16. Hoppe CC. Prenatal and newborn screening for hemoglobinopathies. Int J Lab Hematol. 2013;35(3):297-305. doi:10.1111/ijlh.12076.
  17. Kaback M. Tay-Sachs disease—carrier screening, prenatal diagnosis, and the molecular era. JAMA. 1993;270(19):2307. doi:10.1001/jama.1993.03510190063028.
  18. Jaeken J, Matthijs G. Congenital disorders of glycosylation. Annu Rev Genomics Hum Genet. 2001;2(1):129-151. doi:10.1146/annurev.genom.2.1.129.
  19. Feuchtbaum L, et al. Birth prevalence of disorders detectable through newborn screening by race/ethnicity. Genet Med. 2012;14(11):937-945. doi:10.1038/gim.2012.76.
  20. Hsu H‑W, et al. Spectrum of medium‑chain acyl‑CoA dehydrogenase deficiency detected by newborn screening. Pediatrics. 2008;121(5):e1108-14. doi:10.1542/peds.2007-1993.
  21. Kronn D, et al. Prevalence of Canavan disease heterozygotes in the New York metropolitan Ashkenazi Jewish population. Am J Hum Genet. 1995;57(5):1250-1252.

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