INTRODUCING THE FIRSTGENE® MULTIPLE PRENATAL SCREEN

Know More Sooner.
The Next Generation Prenatal Screen.

The FirstGene® Multiple Prenatal Screen provides a streamlined option to bring together key insights from comprehensive prenatal screening and a novel approach to cell-free DNA testing and carrier screening with a single blood sample.

Learn more about the FirstGene® screen

Multiple screens from a single sample

FirstGene Multiple Prenatal Screen FirstGene Multiple Prenatal Screen
  • Fetal chromosome screen

    Assesses fetal risk for common and serious aneuploidies with >99%1 analytical sensitivity and specificity. Screen includes:

    • Trisomies 21, 13 and 18
    • Sex Chromosome aneuploidies
    • 22q11.2 microdeletion with sensitivity and specificity >99.1%1
  • Fetal single gene screen

    Assesses fetal risk for the inheritance of 19 common, actionable conditions with a >98% analytical sensitivity and >99% analytical specificity.1 No paternal sample needed.

  • Patient carrier screen

    Assesses the carrier status of the pregnant individual for 20 recessive conditions with a >99% analytical sensitivity and specificity.1

  • Fetal RhD screen

    Assesses RhD compatibility between the pregnant person and the fetus with >99% analytical sensitivity and specificity for copy number variant calling.1

Change the way you screen with the FirstGene® screen

The FirstGene® screen delivers actionable genetic insights through cell-free DNA testing with a simple blood draw from your pregnant patient as early as 8 weeks gestation, delivered in ~10 days. No need for paternal screening — so you can support your patients with actionable insights, faster.

Learn more about the FirstGene® screen

One report. Informed insights.

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


ONE SAMPLE

ONE REPORT
  • Fetal chromosome screen
  • Fetal single gene screen
  • Patient Carrier Screen
  • Fetal RhD screen

Comprehensive all-in-one report

Learn more about the FirstGene® screen

FirstGene Connector Study


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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

Read more

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.
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  8. Moise KJ. Management of Rhesus Alloimmunization in pregnancy. Obstet Gynecol. 2008;112(1):164-176. doi:10.1097/aog.0b013e31817d453c.
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  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.
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  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.
  22. Foreman PK, Margulis AV, Alexander K, et al. Birth prevalence of phenylalanine hydroxylase deficiency: a systematic literature review and meta-analysis. Orphanet J Rare Dis. 2021;16(1):253. Published 2021 Jun 3. doi:10.1186/s13023-021-01874-6
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