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

对超过2,200名孕妇携带者的研究证实，在预期用途的一般风险人群中具有强大的临床性能，超过98%的符合条件的cfDNA结果可提供结局数据

MENLO PARK, Calif.

加利福尼亚州门洛帕克

,

，

Aug. 18, 2026

2026年8月18日

/PRNewswire/ -- BillionToOne, Inc. (Nasdaq:

/PRNewswire/ -- BillionToOne, Inc.（纳斯达克：

BLLN

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

），一家致力于开发强大且精准、人人可及的检测产品的下一代分子诊断公司，今日宣布发布

A Prospective, Multi-Site Study of Performance of Cell-Free DNA Testing for Recessive Conditions in a Large, General-Risk Pregnancy Population

一项关于无细胞DNA检测在大型一般风险妊娠人群中隐性遗传病筛查表现的前瞻性、多中心研究

in

在

The Green Journal

《绿色期刊》

. 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.

这是第一项在预期用途筛查人群中开展的前瞻性无创产前检测（NIPT）研究，其妊娠结局的确认近乎完整，为在一般风险妊娠中常规使用基于细胞游离DNA（cfDNA）的胎儿风险评估提供了重要的新证据。

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.

这项前瞻性研究在美国九家机构开展，评估了2,212名孕妇携带者，这些孕妇的伴侣在检测时的携带者状态未知。与那些富集了已知高风险夫妇或具有其他胎儿风险增加指征的妊娠的研究不同，该设计反映了无创产前DNA（cfDNA）胎儿风险评估作为常规产前护理中主要筛查手段的应用情况。

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. .

研究人员评估了这些携带囊性纤维化、脊髓性肌萎缩症以及α-和β-血红蛋白病cfDNA胎儿风险结果的携带者，收集了在参与机构完成护理的98.6%妊娠结局。

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 barriers

传统的携带者筛查依赖于伴侣检测以确定胎儿风险，但由于物流、经济和可及性方面的障碍，伴侣的后续检测常常不完整、延迟或无法进行。

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1

. 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胎儿风险筛查显示出94.4%的敏感性，证实该方法比仅依靠传统的携带者筛查能识别出更多受影响的妊娠，因为传统方法由于伴侣筛查不完整，将不到50%的受影响妊娠归类为高风险。即使在每位伴侣都完成检测的理想情况下，这一优势依然存在：携带者筛查可检出约90%的脊髓性肌萎缩症携带者、95%的α-地中海贫血病例以及高达99%的囊性纤维化携带者，而且接受检测的伴侣并不一定是生物学父亲。

Unity Fetal Risk Screen overcomes both limitations by assessing fetal risk directly rather than inferring it from parental genotypes..

Unity胎儿风险筛查通过直接评估胎儿风险，而非从父母基因型推断，从而克服了这两项局限性。

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..

除了出色的灵敏度外，该检测还展现出99.5%的特异性和大于99.9%的阴性预测值。Unity胎儿风险筛查提供个性化的定量胎儿风险评估，风险值高达9/10（相比之下，在传统筛查中，当双方均确认为携带者时，最高风险仅为1/4），低至1/10,000，从而为患者提供额外的安心保障。

'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.'.

“在产前筛查领域，具有如此高结果完整性的多中心研究十分罕见，”南卡罗来纳医科大学医学院妇产科助理教授伊丽莎·麦克尔维（Eliza McElwee）医学博士表示。“这些结果为临床医生将无细胞DNA胎儿风险评估纳入常规携带者筛查提供了更为坚实的证据基础，其数据与日常临床实践直接相关。”

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..

该研究还表明，在种族和民族多样化的人群中表现一致，支持在不需伴侣检测的情况下公平获得产前基因筛查。研究人员指出，早期检测的紧迫性日益增加，因为新疗法显示，早期诊断可以显著改善患病儿童的预后。

'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.'.

“这项出版物表明，基于cfDNA的胎儿风险评估携带者筛查在一般风险人群中表现可靠，而不仅仅局限于研究环境。”BillionToOne公司产前业务首席医疗官Haywood Brown医学博士表示。“对于患者而言，这意味着仅仅因为未采集伴侣样本而漏诊高风险妊娠的可能性大大降低。”

Unity Fetal Risk Screen is part of BillionToOne's Unity Complete

Unity 胎儿风险筛查是 BillionToOne 公司 Unity Complete 产品的一部分

®

®

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..

产前筛查产品组合，结合携带者筛查、基于cfDNA的胎儿风险评估和非整倍体筛查，通过公司专有的定量计数模板™（QCT™）技术，仅需一次母体采血即可提供产前遗传信息。此次发布紧随BillionToOne最近的公告，该公司宣布将其胎儿风险筛查产品组合扩展至包含一个新的130基因面板，体现了公司在推进全面产前筛查和胎儿风险评估方面的持续投入。

About BillionToOne

关于 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.

BillionToOne 总部位于加利福尼亚州门洛帕克，是一家下一代分子诊断公司，其使命是开发强大且精准、人人可及的检测产品。该公司专有的单分子下一代测序（smNGS）平台是唯一一种能够在物理检测极限下（低至单个 DNA 分子）对遗传靶标进行检测和精确定量的多重检测技术。

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 .

在定量计数模板™（QCTs™）的支持下，该平台以单碱基对分辨率对疾病相关的DNA片段进行定量，提供绝对定量结果。欲了解更多信息，请访问。

www.billiontoone.com

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.

本新闻稿包含根据联邦证券法律定义的某些前瞻性陈述。这些前瞻性陈述通常通过“相信”、“预测”、“预期”、“预计”、“估计”、“打算”、“战略”、“未来”、“机会”、“计划”、“可能”、“应当”、“将”、“将会”、“将成为”、“将继续”、“可能导致”等词语以及类似表述来识别。

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.

前瞻性陈述是基于当前预期和假设对预测、预估及其他有关未来事件的陈述，因此存在风险和不确定性。本新闻稿中的前瞻性陈述包括但不限于关于将cfDNA胎儿风险评估纳入常规携带者筛查的陈述。

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.

这些陈述基于管理层当前的预期、预测和假设，由于多种因素（其中某些因素超出 BillionToOne 的控制范围），实际结果可能与这些陈述存在重大差异。这些及其他风险和不确定性可能会影响 BillionToOne 的财务和经营业绩，并导致实际结果与本新闻稿中所作前瞻性陈述所指示的结果存在重大差异。

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.

这些风险和不确定性包括但不限于BillionToOne在10-K表格年度报告、最近提交的10-Q表格季度报告以及我们不时向美国证券交易委员会提交的其他文件中“风险因素”和“管理层对财务状况及经营成果的讨论与分析”等章节中讨论的内容。

The forward-looking statements in this press release are based on information available to BillionToOne as .

本新闻稿中的前瞻性陈述基于BillionToOne目前可获得的信息。

Media Contact

媒体联系人

[email protected]

[email protected]

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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.

Giles Choates M, Stevens BK, Wagner C, Murphy L, Singletary CN, Wittman AT. 需要双方参与：男性生殖伴侣对携带者筛查的接受情况。《产前诊断》. 2020年2月;40(3):311-316. doi: 10.1002/pd.5588. 电子版发表于2019年12月2日. PMID: 31793013.

SOURCE BillionToOne

来源：BillionToOne

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