Introducing FirstGene®, a multiple prenatal screen designed to streamline the screening process for providers and patients
Assesses the carrier status of the pregnant individual for 11 recessive conditions with a >99% sensitivity and up to 100% specificity. Assesses fetal risk for the inheritance of 10 common, actionable conditions with a >99% detection rate for the majority of conditions.
Assesses RhD compatibility between the pregnant person and the fetus with up to 100% sensitivity and specificity for copy number variant calling.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.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.
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For further information on our privacy practices and commitment to protecting your privacy, please visit our Validation of Fetal RHD Copy Number Calling in FirstGene, a Combined Non-Invasive Prenatal cfDNA Assay for Fetal Aneuploidy, Recessive Diseases, and Serological Screening Validation of Fetal and Maternal Spinal Muscular Atrophy and Hemoglobin Bart’s Screening with FirstGene, a Combined Non-Invasive Prenatal cfDNA Assay for Fetal Aneuploidy, Recessive Diseases, and Serological Screening Validation of Fetal Aneuploidy Detection with FirstGene: a Combined, Non-Invasive Prenatal cfDNA Assay for Fetal Aneuploidy, Recessive Diseases, and Serological Screening Our board-certified genetic counselors are available to support both you and your patients after results are delivered. Comprehensive solutions for every stage of prenatal care 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. 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:756-767. doi:10.1002/ajmg.a.37001. Mai CT, et al. National population-based estimates for Major Birth Defects, 2010–2014. Birth Defects Res. 2019;111:1420-1435. doi:10.1002/bdr2.1589.
Goel N, et al. Trisomy 13 and 18—prevalence and mortality—a multi‑registry population‑based analysis. Am J Med Genet A. 2019;179:2382-2392. doi:10.1002/ajmg.a.61365. Samango-Sprouse C, et al.
Incidence of X and Y chromosomal aneuploidy in a large child‑bearing population. PLOS ONE. 2016;11. doi:10.1371/journal.pone.0161045. Oskarsdottir S. Incidence and prevalence of the 22q11 deletion syndrome: A population‑based study in western Sweden. Arch Dis Child. 2004;89:148-151. doi:10.1136/adc.2003.026880.
Moise K. Management of Rhesus Alloimmunization in pregnancy. Obstet Gynecol. 2002;100:600-611. doi:10.1016/s0029-784402180-4. Moise KJ. Management of Rhesus Alloimmunization in pregnancy.
Obstet Gynecol. 2008;112:164-176. doi:10.1097/aog.0b013e31817d453c. Scotet V, et al. The changing epidemiology of cystic fibrosis: Incidence, survival and impact of the CFTR Gene Discovery. Genes. 2020;11:589. doi:10.3390/genes11060589.
Kosorok MR, et al. The incidence of cystic fibrosis. Stat Med. 1996;15:449-462. doi:10.1002/1097-025815:53.0. CO;2-X. O’Sullivan BP, Freedman SD.
Cystic fibrosis. The Lancet. 2009;373:1891-1904. doi:10.1016/s0140-673660327-5. Verhaart IE, et al. Prevalence, incidence and carrier frequency of 5q‑linked spinal muscular atrophy – a literature review.
Orphanet J Rare Dis. 2017;12. doi:10.1186/s13023-017-0671-8. Hassell KL. Population estimates of sickle cell disease in the U.S. Am J Prev Med. 2010;38. doi:10.1016/j.amepre.2009.12.022. Hunter J, et al.
Epidemiology of Fragile X Syndrome: A systematic review and meta‑analysis. Am J Med Genet A. 2014;164:1648-1658. doi:10.1002/ajmg.a.36511. Hoppe CC. Prenatal and newborn screening for hemoglobinopathies.
Int J Lab Hematol. 2013;35:297-305. doi:10.1111/ijlh.12076. Kaback M. Tay-Sachs disease—carrier screening, prenatal diagnosis, and the molecular era. JAMA. 1993;270:2307. doi:10.1001/jama.1993.03510190063028. Jaeken J, Matthijs G. Congenital disorders of glycosylation.
Annu Rev Genomics Hum Genet. 2001;2:129-151. doi:10.1146/annurev.genom.2.1.129. Feuchtbaum L, et al. Birth prevalence of disorders detectable through newborn screening by race/ethnicity. Genet Med. 2012;14:937-945. doi:10.1038/gim.2012.76.
Hsu H‑W, et al. Spectrum of medium‑chain acyl‑CoA dehydrogenase deficiency detected by newborn screening. Pediatrics. 2008;121:e1108-14. doi:10.1542/peds.2007-1993. Kronn D, et al.
Prevalence of Canavan disease heterozygotes in the New York metropolitan Ashkenazi Jewish population. Am J Hum Genet. 1995;57:1250-1252.
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