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
GeneDx, a leader in delivering improved health outcomes through genomic insights, announced GenomeDx Prenatal, whole genome sequencing 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.
Health Technology Insights: Abeona Therapeutics Announces Appointment of Mohamad Tabrizi as Chief Business Officer
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.
Health Technology Insights: Health Technology Insights: Latest News And Innovations – Roundup 15 December 2025
“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. 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. 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.
“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.
Health Technology Insights: Infinitus Launches Next-Generation Clinical AI Agents
To participate in our interviews, please write to our HealthTech Media Room at info@intentamplify.com
Source- businesswire
