GeneDx Announces GenomeDx Prenatal™, Expanding Industry-Leading Genomic Diagnosis Into Prenatal Care
Rhea-AI Impact
(Very High)
Rhea-AI Sentiment
(Neutral)
Tags
Key Terms
whole genome sequencingmedical
Whole genome sequencing is a laboratory method that reads an individual’s complete DNA instruction book, capturing all genetic letters rather than just selected parts. For investors, it matters because it can reveal new ways to diagnose, prevent or treat disease and to develop tests or drugs — like upgrading from a map of a few streets to a full city blueprint — which can create commercial opportunities, influence regulatory pathways and change healthcare costs and demand.
WGSmedical
Whole genome sequencing (WGS) is a laboratory method that reads an individual’s complete DNA instruction set, capturing all genetic differences across the genome; think of it as scanning an entire instruction manual instead of inspecting only a few pages. For investors, WGS matters because it can enable broader diagnostics, guide targeted drug development, and create new clinical and commercial opportunities—so firms using or offering WGS may have different growth potential, regulatory paths, and risk profiles than those relying on limited genetic tests.
phenotype-informedmedical
Phenotype-informed describes an approach that uses observable traits—such as symptoms, test results, or measurable biological features—to guide research, diagnosis, or treatment decisions. For investors, it signals that development or clinical strategies are grounded in real-world patient characteristics, which can improve the chances of finding the right patients, reduce wasted spending on ineffective trials, and make outcomes more predictable, similar to tailoring a product to customers who actually buy it.
prenatal diagnostic testingmedical
Prenatal diagnostic testing are medical tests performed during pregnancy to detect genetic conditions, birth defects, or other health issues in the fetus. Like a detailed roadmap check before a trip, these tests help expectant parents and clinicians make informed decisions about care, treatment options, or delivery planning. For investors, demand, accuracy, regulatory approval, and reimbursement for these tests influence the commercial prospects of companies that develop and provide them.
congenital heart diseasemedical
A lifelong structural problem with the heart or its blood vessels that is present at birth, ranging from small defects to complex malformations; think of it as a plumbing or wiring fault in the heart that can affect how blood flows. It matters to investors because prevalence, treatment options, surgical procedures, medical devices, long-term care and drug development create predictable markets, cost pressures and regulatory pathways that influence healthcare company revenues and valuation.
skeletal dysplasiamedical
A group of inherited conditions that affect how bones and cartilage grow, often causing unusually short stature, bone deformities or joint problems. For investors, these disorders matter because they create specific markets for treatments, genetic tests and medical devices; successful drugs or diagnostics can win regulatory incentives and long-term patient demand, much like supplying a niche but steady customer base for a specialized product.
nuchal translucencymedical
Nuchal translucency is the ultrasound measurement of the small fluid-filled space at the back of a fetus’s neck in the first trimester; a thicker-than-expected measurement can signal a higher risk of chromosomal abnormalities or certain heart issues. For investors, shifts in screening guidelines, test accuracy or adoption can affect demand for ultrasound machines, prenatal diagnostic tests and lab services—acting like an early warning light that influences market opportunities in prenatal health.
New whole genome sequencing test delivers fast, comprehensive insights when fetal anomalies are identified, reinforcing GeneDx’s commitment to enabling precise, fast, and actionable rare disease diagnosis at the earliest moment possible
GAITHERSBURG, Md.--(BUSINESS WIRE)--
GeneDx (Nasdaq: WGS), a leader in delivering improved health outcomes through genomic insights, today announced GenomeDx Prenatal™, whole genome sequencing (WGS) designed to deliver clear, reliable answers during one of the most critical moments in pregnancy care. The phenotype-informed, trio-based test is intended for pregnancies with fetal anomalies identified via ultrasound, enabling clinicians and expecting families to access actionable genomic insights with a rapid turnaround time. In contrast to carrier or noninvasive prenatal screening that identifies pregnancies at risk of having a genetic disorder, prenatal diagnostic testing can determine whether a pregnancy is affected by a genetic disorder.
With more than a decade of experience in prenatal diagnostics – including over 10 years of prenatal exome testing and more than 4,000 prenatal exomes performed – GeneDx brings its proven genomic expertise and the power of GeneDx Infinity ™, the largest rare disease dataset, into prenatal care. GenomeDx Prenatal builds on this foundation, combining comprehensive variant detection with deep clinical interpretation to help inform diagnosis, guide prenatal and postnatal care, and support care decision-making when time matters most.
“Families and clinicians facing complex fetal findings need precise, fast, and actionable answers they can trust,” said Katherine Stueland, President and CEO of GeneDx. “GenomeDx Prenatal extends our industry-leading diagnostic capabilities into prenatal care, helping identify rare disease at the earliest moment possible while creating a seamless bridge from prenatal diagnosis through lifelong patient support.”
Structural anomalies detected on prenatal ultrasound are frequently linked to an underlying genetic condition. Overall, significant fetal structural anomalies are identified in up to 4% of pregnancies.1 When fetal anomalies are identified, most parents want as much information as possible to inform the best care, reduce the diagnostic odyssey, and avoid misdiagnosis. Even when results are uncertain, parents view genomic insights as empowering.2 GenomeDx Prenatal is designed to meet this need by delivering clinically relevant information that supports time-sensitive patient counseling and care planning.
Prenatal genomic sequencing has been shown to influence clinical management in up to 70 percent of cases, including both diagnostic and inconclusive results.3 Genomic insights can help clarify fetal prognosis, guide pregnancy and delivery planning, and support considerations related to in-utero therapy, palliative care, and postnatal evaluation. Earlier, more comprehensive insights also help reduce morbidity and mortality while supporting families’ psychological preparation.2
“There is nothing more hopeless than being told something is likely wrong with your baby while pregnant, without clarity or details. Families suffer through months of worry and can receive poor results from limited tests, resulting in devastation and surprise later in the child’s life,” said Lisa Gurry, Chief Business Officer of GeneDx. “This was my family’s experience and is part of why I’m so passionate about empowering families with precise knowledge as soon as possible. GenomeDx Prenatal can give families the information they deserve, when they need it.”
GenomeDx Prenatal sets a new standard for prenatal genomic testing, delivering broad variant detection in a single, comprehensive assay with results in less than two weeks, eliminating delays from stepwise testing approaches. The test provides robust detection across critical prenatal indications, including congenital heart disease, skeletal dysplasia, brain and kidney malformations, increased nuchal translucency, and hydrops.
Built to support families beyond the prenatal moment, GeneDx extends care through free postnatal reanalysis and optional lifetime reanalysis, delivered through a seamless, provider-friendly experience with clear sample requirements, responsive clinical support, proactive communication, transparent billing, and an intuitive ordering and results portal that ensures continuity from prenatal findings through long-term care. GenomeDx Prenatal will be available for clinicians to order in February 2026.
About GeneDx
GeneDx (Nasdaq: WGS) is the global leader in rare disease diagnosis, with a mission to empower everyone to live their healthiest life through genomics. GeneDx combines unmatched clinical expertise, advanced technology, and the power of GeneDx Infinity™ – the world’s largest rare disease genomic dataset. This unparalleled foundation powers GeneDx’s ExomeDx™ and GenomeDx™ tests – ranked #1 by expert geneticists and granted FDA Breakthrough Device designation – enabling clinicians to deliver precise, fast, and actionable diagnoses. GeneDx Infinity also fuels discovery for biopharma, with the most powerful AI-driven genomic intelligence. A genomics pioneer over the last 25 years, diagnosing more than 4,800 genetic diseases and publishing more than 1,000 research publications, GeneDx is building the network that will drive the future of genomic precision medicine. For more information, visit genedx.com and connect with us on LinkedIn, Facebook, and Instagram.
Forward Looking Statements
This press release may contain “forward-looking statements” within the meaning of Section 21E of the Securities Exchange Act of 1934, as amended, and the U.S. Private Securities Litigation Reform Act of 1995. These forward-looking statements generally are identified by the words “believe,” “project,” “expect,” “anticipate,” “estimate,” “intend,” “strategy,” “future,” “opportunity,” “plan,” “may,” “should,” “will,” “would,” “will be,” “will continue,” “will likely result,” and similar expressions. Forward-looking statements are predictions, projections and other statements about future events that are based on current expectations and assumptions and, as a result, are subject to risks and uncertainties. Many factors could cause actual future events to differ materially from the forward-looking statements in this press release, including but not limited to: (i) our ability to successfully launch new product offerings, (ii) the risk of downturns and a changing regulatory landscape in the highly competitive healthcare industry, (iii) the size and growth of the market in which we operate, (iv) our ability to pursue our new strategic direction. The foregoing list of factors is not exhaustive. A further list and description of risks, uncertainties and other matters can be found in the “Risk Factors” section of our Annual Report on Form 10-K for the fiscal year ended December 31, 2024 and our Quarterly Reports on Form 10-Q for the fiscal quarters ended March 31, 2025, June 30, 2025, and September 30, 2025, and other documents filed by us from time to time with the SEC. These filings identify and address other important risks and uncertainties that could cause actual events and results to differ materially from those contained in the forward-looking statements. Forward-looking statements speak only as of the date they are made. Readers are cautioned not to put undue reliance on forward-looking statements, and we assume no obligation and do not intend to update or revise these forward-looking statements, whether as a result of new information, future events, or otherwise. We do not give any assurance that we will achieve our expectations.
1. Salomon LJ, Alfirevic Z, Berghella V, et al. Practice guidelines for performance of the routine mid-trimester fetal ultrasound scan. Ultrasound Obstet Gynecol. 2011 Jan;37(1):116-26. doi: 10.1002/uog.8831.
3. Deden C, Neveling K, Zafeiropopoulou D, et al. Rapid whole exome sequencing in pregnancies to identify the underlying genetic cause in fetuses with congenital anomalies detected by ultrasound imaging. Prenat Diagn. 2020 Jul;40(8):972-983. doi: 10.1002/pd.5717.
