/C O R R E C T I O N -- BillionToOne/

Rhea-AI Summary

BillionToOne (Nasdaq: BLLN) reported publication in The Green Journal of a prospective, multi-site study evaluating its Unity Fetal Risk Screen cfDNA test for recessive conditions in a large, general-risk pregnancy population.

The nine-center U.S. study followed 2,212 pregnant carriers whose partners’ carrier status was unknown, with outcomes collected for 98.6% of pregnancies completing care. Unity Fetal Risk Screen assessed fetal risk for cystic fibrosis, spinal muscular atrophy, and alpha- and beta-hemoglobinopathies, demonstrating 94.4% sensitivity, 99.5% specificity, and >99.9% negative predictive value. According to BillionToOne, traditional carrier screening classifies fewer than 50% of affected pregnancies as high risk, largely due to incomplete partner testing, while Unity directly estimates fetal risk, providing personalized probabilities from as high as 9-in-10 to as low as 1 in 10,000. Performance was consistent across racially and ethnically diverse groups, and the test is part of the Unity Complete prenatal portfolio, which the company is expanding with a new 130-gene fetal risk panel.

Positive

• Prospective study in 2,212 carriers across nine U.S. institutions with 98.6% outcome ascertainment
• Unity Fetal Risk Screen sensitivity 94.4% for targeted recessive conditions in general-risk pregnancies
• Specificity 99.5% and negative predictive value >99.9% for the cfDNA fetal risk assay
• Higher affected-pregnancy classification than traditional carrier screening, which flags fewer than 50% as high risk
• Consistent performance in diverse populations, supporting broader and more equitable prenatal screening access
• Portfolio expansion to a 130-gene panel, signaling continued investment in comprehensive prenatal screening

Negative

• None.

Market Context

Historical event 1162857 recorded a -38.89% 24-hour reaction despite positive Q2 results. This study...

Analysis

Historical event 1162857 recorded a -38.89% 24-hour reaction despite positive Q2 results. This study should be viewed alongside that divergence, with Net Selling insider activity remaining a relevant risk factor.

Key Figures

Study Population: 2,212 pregnant carriers Outcome Completeness: 98.6% Sensitivity: 94.4% +5 more

8 metrics

Study Population 2,212 pregnant carriers Prospective study across nine U.S. institutions

Outcome Completeness 98.6% Pregnancies completing care at participating sites

Sensitivity 94.4% Unity Fetal Risk Screen

Specificity 99.5% Unity Fetal Risk Screen

Negative Predictive Value >99.9% Unity Fetal Risk Screen

Highest Quantitative Fetal Risk 9-in-10 Personalized fetal risk assessment

Traditional Screening Maximum Risk 1-in-4 When both partners are confirmed carriers

Lowest Quantitative Fetal Risk 1 in 10,000 Personalized fetal risk assessment

Historical Context

5 past events · Latest: Aug 05 (Positive)

Pattern 5 events

Date	Event	Sentiment	24h Move	Catalyst
Aug 05	Earnings report	Positive	-38.9%	Q2 revenue growth, profitability, and reiterated 2026 revenue guidance
Jul 20	Leadership change	Positive	-4.0%	Oncology chief medical officer appointed to lead Northstar medical strategy
Jul 15	Earnings scheduling	Neutral	+4.0%	Company scheduled release of second-quarter financial results
Jun 29	Clinical data	Positive	+1.9%	Northstar Response showed stronger survival prediction than standard imaging
May 27	Conference participation	Neutral	+7.5%	Management announced participation in William Blair growth stock conference

24h Move is the share-price change in the day after each event; other market factors may also have contributed.

Pattern Detected

Positive announcements showed mixed reactions, including a -38.89% response to the prior earnings release despite reported growth and reiterated guidance.

Key Terms

cfdna, nipt, negative predictive value, hemoglobinopathies, +1 more

5 terms

cfdna medical

"cfDNA fetal risk assessment as a primary screen for recessive conditions"

Cell-free DNA (cfDNA) is short fragments of genetic material that float freely in the bloodstream after cells die and release their contents. Investors care because cfDNA can be sampled with a simple blood draw to reveal signs of pregnancy complications, organ damage, or cancer without invasive procedures, making it the basis for high-growth diagnostic tests, monitoring tools and companion products that can change how diseases are detected and treated.

nipt medical

"the first prospective NIPT study conducted in an intended-use screening population"

Non-invasive prenatal testing (NIPT) is a blood test that screens for certain genetic conditions in a fetus by examining small fragments of the baby’s DNA present in the pregnant person’s blood, avoiding invasive procedures that enter the womb. It matters to investors because test uptake, accuracy, regulatory approval, and pricing determine revenue and margins for companies offering the technology—think of NIPT as a safer, earlier health check (like a smoke alarm for genetic risk) that can drive demand and competitive dynamics in healthcare markets.

negative predictive value medical

"99.5% specificity and >99.9% negative predictive value"

Negative predictive value is a measure of how reliable a negative result is in confirming that a person or situation is truly free of a problem or condition. For investors, it indicates the likelihood that a negative signal or indicator truly means there is no risk or issue present, helping them assess how much trust to place in avoiding potential problems based on current information.

hemoglobinopathies medical

"cystic fibrosis, spinal muscular atrophy, and alpha- and beta-hemoglobinopathies"

Inherited disorders of hemoglobin, the oxygen-carrying protein in red blood cells, that change hemoglobin’s structure or production and cause anemia, pain crises, organ damage, or other health problems. Think of hemoglobin as the engine in a car: hemoglobinopathies are defects in that engine or how many engines are made, affecting how well the body transports oxygen. They matter to investors because they define patient populations, treatment needs, regulatory pathways, and potential market size for drugs, diagnostics, and therapies.

aneuploidy screening medical

"carrier screening, cfDNA-based fetal risk assessment, and aneuploidy screening"

Aneuploidy screening is a lab test that checks whether cells—often from embryos, fetuses, or tumors—have the wrong number of chromosomes, which can indicate developmental disorders or certain cancers. Think of it like counting pages in a book to see if any are missing or duplicated. For investors, it matters because demand, reimbursement, regulatory approval, and technological advances for these tests affect revenues and growth prospects of diagnostics and healthcare companies.

AI-generated analysis. How Rhea-AI works. Not financial advice.

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In the news release, Largest Prospective Study in General-Risk Pregnancies Strengthens Evidence for cfDNA Fetal Risk Assessment as a Primary Screen for Recessive Conditions, issued 18-Aug-2026 by BillionToOne over PR Newswire, we are advised by the company that changes have been made. The complete, corrected release follows, with additional details at the end:

Largest Prospective Study in General-Risk Pregnancies Strengthens Evidence for cfDNA Fetal Risk Assessment as a Primary Screen for Recessive Conditions

Study of more than 2,200 pregnant carriers demonstrates strong clinical performance in the intended-use, general-risk population, with outcomes available for more than 98% of eligible cfDNA results

MENLO PARK, Calif., Aug. 18, 2026 /PRNewswire/ -- BillionToOne, Inc. (Nasdaq: BLLN), a next-generation molecular diagnostics company with a mission to create powerful and accurate tests that are accessible to all, today announced publication of A Prospective, Multi-Site Study of Performance of Cell-Free DNA Testing for Recessive Conditions in a Large, General-Risk Pregnancy Population in The Green Journal. This is the first prospective NIPT study conducted in an intended-use screening population with near-complete pregnancy outcome ascertainment, providing important new evidence supporting routine use of cfDNA fetal risk assessment in general-risk pregnancies.

Conducted across nine U.S. institutions, the prospective study evaluated 2,212 pregnant carriers in which partner carrier status was unknown at the time of testing. Unlike studies enriched with known high-risk couples or pregnancies with other indications of increased fetal risk, this design reflects how cfDNA fetal risk assessment is used as a primary screen in routine prenatal care. Investigators assessed these carriers with cfDNA fetal risk results for cystic fibrosis, spinal muscular atrophy, and alpha- and beta-hemoglobinopathies, collecting outcomes for 98.6% of pregnancies completing care at participating sites. 

Traditional carrier screening depends on partner testing to determine fetal risk, but partner follow-up is often incomplete, delayed, or unavailable due to logistical, financial, and access barriers¹. Unity Fetal Risk Screen demonstrated 94.4% sensitivity, confirming that this approach identifies more affected pregnancies than traditional carrier screening alone, which classifies fewer than 50% of affected pregnancies as high-risk, mainly due to incomplete partner screening. This advantage holds even in the ideal scenario in which every partner completes testing: carrier screening detects approximately 90% of spinal muscular atrophy carriers, 95% of alpha-thalassemia cases, and up to 99% of cystic fibrosis carriers, and the tested partner may not always be the biological father. Unity Fetal Risk Screen overcomes both limitations by assessing fetal risk directly rather than inferring it from parental genotypes.

In addition to excellent sensitivity, the assay demonstrated 99.5% specificity and >99.9% negative predictive value. Unity Fetal Risk Screen provides a personalized, quantitative fetal risk as high as 9-in-10 — compared to the maximum 1-in-4 risk offered by traditional screening when both partners are confirmed carriers — and as low as 1 in 10,000, giving patients added reassurance.

"Multi-center studies with this level of outcome completeness are rare in prenatal screening," said Eliza McElwee, MD, Assistant Professor College of Medicine Department Obstetrics Gynecology at Medical University of South Carolina. "These results provide clinicians with a much stronger evidence base for incorporating cfDNA fetal risk assessment into routine carrier screening, with data that are directly relevant to everyday clinical practice."

The study also demonstrated consistent performance across a racially and ethnically diverse population, supporting equitable access to prenatal genetic screening without the need for partner testing. Researchers point to the growing urgency of early detection, as new therapies show that earlier diagnosis can meaningfully change outcomes for affected children.

"This publication shows that carrier screening with cfDNA fetal risk assessment performs reliably in the general-risk population, not just in a research setting," said Haywood Brown, MD, Chief Medical Officer, Prenatal at BillionToOne. "For patients, that means a high-risk pregnancy is far less likely to be missed simply because a partner sample was never collected."

Unity Fetal Risk Screen is part of BillionToOne's Unity Complete^® prenatal screening portfolio, combining carrier screening, cfDNA-based fetal risk assessment, and aneuploidy screening to deliver prenatal genetic information from a single maternal blood draw via the company's proprietary Quantitative Counting Template™ (QCT™) technology. The publication follows BillionToOne's recent announcement that it is expanding its fetal risk screen portfolio to include a new 130-gene panel, reflecting the company's continued investment in advancing comprehensive prenatal screening and fetal risk assessment.

About BillionToOne
Headquartered in Menlo Park, California, BillionToOne is a next-generation molecular diagnostics company with a mission to create powerful and accurate tests that are accessible to all. The company's proprietary single-molecule next-generation sequencing (smNGS) platform is the only multiplex technology that can detect and precisely quantify genetic targets at the physical limit of detection, down to the single DNA molecule. Enabled by Quantitative Counting Templates™ (QCTs™), the platform quantifies disease-related DNA fragments with single base-pair resolution, providing absolute quantification. For more information, visit www.billiontoone.com.

This press release contains certain forward-looking statements within the meaning of federal securities laws. 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. Forward-looking statements in this press release include, but are not limited to, statements regarding incorporation of cfDNA fetal risk assessment into routine carrier screening. These statements are based on management's current expectations, forecasts and assumptions, and actual outcomes and results could differ materially from these statements due to a number of factors, some of which are beyond BillionToOne's control. These and additional risks and uncertainties could affect BillionToOne's financial and operating results and cause actual results to differ materially from those indicated by the forward-looking statements made in this press release. These risks and uncertainties include, but are not limited to, those discussed under the captions "Risk Factors" and "Management's Discussion and Analysis of Financial Condition and Results of Operation" and elsewhere in BillionToOne's Annual Report on Form 10-K, BillionToOne's most recently filed Quarterly Report on Form 10-Q, and other filings we make with the Securities and Exchange Commission from time to time. The forward-looking statements in this press release are based on information available to BillionToOne as of the date hereof, and BillionToOne disclaims any obligation to update any forward-looking statements provided to reflect any change in its expectations or any change in events, conditions, or circumstances on which any such statement is based, except as required by law. These forward-looking statements should not be relied upon as representing BillionToOne's views as of any date subsequent to the date of this press release.

Media Contact

billiontoone@moxiegrouppr.com 

¹ Giles Choates M, Stevens BK, Wagner C, Murphy L, Singletary CN, Wittman AT. It takes two: uptake of carrier screening among male reproductive partners. Prenat Diagn. 2020 Feb;40(3):311-316. doi: 10.1002/pd.5588. Epub 2019 Dec 2. PMID: 31793013.

Correction: A hyperlink has been added in the 1st paragraph.

View original content to download multimedia:https://www.prnewswire.com/news-releases/largest-prospective-study-in-general-risk-pregnancies-strengthens-evidence-for-cfdna-fetal-risk-assessment-as-a-primary-screen-for-recessive-conditions-302854319.html

SOURCE BillionToOne

FAQ

What did BillionToOne (NASDAQ: BLLN) announce about its Unity Fetal Risk Screen study on August 18, 2026?

BillionToOne announced publication of a large prospective study validating Unity Fetal Risk Screen in general-risk pregnancies. According to BillionToOne, the multi-site U.S. study of 2,212 pregnant carriers showed high sensitivity, specificity, and negative predictive value for recessive condition screening using cfDNA-based fetal risk assessment.

How large was BillionToOne's Unity Fetal Risk Screen study and what outcomes were obtained for BLLN?

The study included 2,212 pregnant carriers with unknown partner status in general-risk pregnancies. According to BillionToOne, investigators obtained pregnancy outcomes for 98.6% of eligible cfDNA results across nine U.S. institutions, providing a robust dataset supporting Unity Fetal Risk Screen’s performance in routine prenatal care settings.

What clinical performance metrics did BillionToOne's Unity Fetal Risk Screen achieve in general-risk pregnancies?

Unity Fetal Risk Screen showed 94.4% sensitivity, 99.5% specificity, and over 99.9% negative predictive value. According to BillionToOne, these metrics were achieved for cystic fibrosis, spinal muscular atrophy, and alpha- and beta-hemoglobinopathies, demonstrating strong performance for cfDNA-based fetal risk assessment in the intended-use population.

How does Unity Fetal Risk Screen compare with traditional carrier screening for recessive conditions according to BillionToOne (BLLN)?

Unity Fetal Risk Screen directly estimates fetal risk and identified more affected pregnancies than traditional carrier screening. According to BillionToOne, traditional carrier screening classifies fewer than 50% of affected pregnancies as high risk, partly due to incomplete partner testing, whereas Unity bypasses the need for partner genotype information.

Which genetic conditions are covered in BillionToOne's Unity Fetal Risk Screen study for NASDAQ: BLLN?

The study evaluated fetal risk for cystic fibrosis, spinal muscular atrophy, and alpha- and beta-hemoglobinopathies. According to BillionToOne, Unity Fetal Risk Screen provided personalized quantitative fetal risk estimates for these recessive conditions using cfDNA from a single maternal blood draw in general-risk pregnancies.

What personalized fetal risk range does BillionToOne's Unity Fetal Risk Screen provide for pregnant patients?

Unity Fetal Risk Screen reports individualized fetal risk as high as 9-in-10 and as low as 1 in 10,000. According to BillionToOne, this range exceeds the maximum 1-in-4 risk from traditional carrier screening and can offer added reassurance when risk is very low.

What is the significance of BillionToOne's 130-gene fetal risk panel expansion for Unity Complete and BLLN investors?

BillionToOne is expanding its fetal risk screen portfolio to a new 130-gene panel, broadening condition coverage. According to BillionToOne, this move reflects continued investment in comprehensive prenatal screening and enhances the Unity Complete portfolio, which integrates carrier screening, cfDNA fetal risk assessment, and aneuploidy screening.