For most expectant parents, prenatal screening has traditionally meant learning whether they are carriers of genetic conditions which could affect their baby. Once the results come back, parents can begin preparing for what might happen after birth.

But what if prenatal screening could go further? What if this screening could reveal their baby’s actual risk for genetic conditions while still in the womb? This could be revolutionary. After all, researchers are already studying whether treating conditions like spinal muscular atrophy (SMA) in utero could preserve motor neuron function (a 2025 study published in the New England Journal of Medicine suggests yes!). In 2024, an infant treated in utero for cystic fibrosis had preserved pancreatic function. However, in utero testing and therapeutic application is not always accessible. And these emerging therapies require early diagnosis so doctors can act.

BillionToOne is working to change the paradigm, making advanced prenatal screening affordable and accessible for everyone through the company’s UNITY Fetal Risk Screen. The screen, unlike other testing options, does not require the father to be tested. Rather, shares Chelsea Wagner, Lead Genetic Counselor at BillionToOne, the company’s screening technology can now assess fetal risk for both chromosomal and inherited conditions using just a single maternal blood draw.

Recently, Wagner spoke with Rareatives about how precision prenatal diagnostics are reshaping pregnancy care and what these advances mean for the future of prenatal medicine.

Rareatives: How is early genetic insight reshaping the future of pregnancy care?

Chelsea: How parents and doctors navigate pregnancy has evolved quickly in recent years, a trend that’s sure to accelerate in 2026 and beyond.

Innovative prenatal screening now makes it possible to learn about a baby’s risk for certain genetic conditions using only a simple maternal blood draw. Having this information early can give families more time to plan, connect with specialists, and consider new treatment options that may improve outcomes, even before birth. These advancements are setting the stage for better outcomes for babies with certain genetic conditions by changing how parents and providers approach pregnancy care.

What’s Changed:

• Expanded Screening: Traditional screening identifies parental carrier status only (whether parents are carriers). New prenatal screening technology goes further to assess a baby’s potential risk for certain chromosomal and inherited conditions directly from maternal blood. This innovative approach is designed to give families clearer information sooner, when it can make the biggest difference. 
• In utero Innovation: One of the most exciting developments in prenatal care is the potential to treat certain genetic conditions before birth – otherwise known as in utero. For some conditions, treatments that can start shortly after birth already lead to life-changing improvement—but emerging research suggests that beginning treatment during pregnancy may offer even greater benefits. Early fetal-risk assessment helps parents and providers identify which pregnancies may be candidates for today’s treatments as well as future in-utero therapies.

What does the future of treatment for genetic conditions look like?

With these latest innovations, the future is certainly bright for innovative treatments that could improve health outcomes for those with genetic conditions, including:

• Spinal muscular atrophy: SMA affects the muscles used for breathing and movement. Researchers are exploring whether treatment during pregnancy may preserve motor neuron function in the muscles prenatally. 
• Cystic fibrosis: CF affects the lungs and digestive system. New medications called CFTR modulators have transformed outcomes for those who start treatment early. Studies are now evaluating whether beginning therapy before birth might resolve certain ultrasound findings and promote pancreatic function. 
• Beta-thalassemia & Sickle Cell Disease:  These red blood cell conditions cause anemia, organ damage, and other complications. Recently approved gene therapies are creating new possibilities for long-term improvement. If approved, future approaches may allow certain babies to receive treatment before they’re born.
• Alpha thalassemia: A condition that ranges widely in severity. Severe forms can cause complications during pregnancy, sometimes requiring in-utero interventions. Early identification can facilitate specialized care during these pregnancies. 

What does the future of prenatal testing hold?

Prenatal testing today looks different because medicine is entering a new era—one where early, meaningful information can open the door to life-changing treatment options. An alternative to the traditional, step-by-step approach that requires testing both parents, UNITY is a first-of-its-kind test that uses just one simple blood draw from the pregnant parent to estimate the baby’s risk for both chromosomal and inherited conditions.

This is possible thanks to UNITY’s unique molecular counting technology (QCTs), which can measure tiny fragments of fetal DNA with extraordinary precision. While the science behind it is complex, the promise is simple: clear answers, earlier in pregnancy, for more families.

By giving clinicians and parents a clear, comprehensive view of fetal risk, they are empowered to evaluate the potential availability and benefits of other advances in prenatal care—including emerging in-utero therapies—at the time when early action matters most. 

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About Chelsea Wagner

Chelsea Wagner is Lead Genetic Counselor at BillionToOne, a molecular diagnostics company with a mission to create powerful and accurate tests that are accessible to all. The company’s patented Quantitative Counting Templates™ (QCT™) molecular counting platform is the only multiplex technology that can accurately count DNA molecules at the single-molecule level.