BillionToOne Launches Unity Confirm: Non-Invasive Fetal Cell Test Bridges Gap Between Screening and Invasive Diagnostics
核心洞察
BillionToOne (搜索) has launched Unity Confirm (搜索), a breakthrough non-invasive prenatal test that captures intact circulating fetal cells (搜索) to confirm high-risk screening results without procedural risks.
The test demonstrated 100% concordance with invasive diagnostic results across 16 samples in clinical validation, utilizing whole genome sequencing on individual fetal cells to achieve CVS-like accuracy.
Unity Confirm (搜索) addresses a critical gap in prenatal care, as most patients decline invasive testing after high-risk screening results, leaving families without diagnostic confirmation.
BillionToOne (搜索) announced the launch of Unity Confirm (搜索), a non-invasive prenatal test that captures intact circulating fetal cells (搜索) to confirm high-risk screening results, addressing a longstanding gap between screening and invasive diagnostics. The molecular diagnostics company's breakthrough technology isolates fetal cells from maternal blood and performs whole genome sequencing on each individual cell, providing what the company describes as "CVS-like insights" without procedural risks.
Addressing Critical Clinical Need
Current clinical guidelines recommend diagnostic confirmation via chorionic villus sampling (CVS) or amniocentesis following high-risk non-invasive prenatal testing (NIPT) results. However, these invasive procedures carry a small but real risk of pregnancy loss and are increasingly difficult to access. According to BillionToOne (搜索), the majority of patients decline invasive testing, "leaving clinicians and families without the information needed to guide next steps."
"Amniocentesis remains the gold standard, but many patients who receive a high-risk noninvasive prenatal testing result cannot — due to barriers in care or choose not to — pursue invasive testing. That's the gap Unity Confirm (搜索) is designed to fill," said Haywood L. Brown, MD, FACOG, past president of ACOG (搜索) and chief medical officer, prenatal at BillionToOne (搜索).
Breakthrough Technology Platform
Unity Confirm (搜索) utilizes BillionToOne (搜索)'s Fetal Cell Capture technology, a multi-step immunological enrichment and single cell isolation process that addresses the scientific challenge of isolating rare fetal cells from maternal circulation. Fetal cells present at fewer than one cell per milliliter of blood and are nearly indistinguishable from millions of surrounding maternal cells.
"For years, the idea of capturing whole fetal cells non-invasively was largely viewed as an elusive holy grail, something theoretically possible but practically out of reach," said Oguzhan Atay, PhD, Co-founder and CEO of BillionToOne (搜索). "Unity Confirm (搜索) is proof that it does not have to be."
The technology effectively provides 100% fetal fraction by analyzing intact fetal cells rather than fragmentary cell-free DNA, similar to invasive procedures. Brown explained that "because the cells are intact, whole genome sequencing effectively provides 100% fetal fraction, which is what drives the accuracy."
Clinical Validation Results
BillionToOne (搜索)'s clinical validation demonstrated 100% concordance with known fetal outcomes and invasive diagnostic results across 16 of 16 samples, including affected fetuses for common aneuploidies and 22q11.2 microdeletion (搜索). The underlying cell-based approach has been clinically studied across three independent publications in more than 1,500 patients, consistently demonstrating high concordance between fetal cell capture and invasive diagnostic testing.
The company is now enrolling in the largest prospective study of a fetal cell-based confirmation assay with invasive diagnostic outcomes, targeting enrollment of 1,000 patients and measuring concordance to invasive diagnostic testing.
Clinical Availability and Applications
Unity Confirm (搜索) will be available for clinicians to order beginning May 28, exclusively for patients who received a high-risk Unity Aneuploidy Screen (搜索) result. The test is intended for patients who cannot or choose not to pursue invasive diagnostic testing following a high-risk result before 16 weeks of gestation.
The test covers Trisomy 21 (Down syndrome (搜索)), Trisomy 18 (搜索), Trisomy 13 (搜索), 22q11.2 microdeletion (搜索), XXY (搜索), XYY (搜索), and XXX aneuploidies (搜索), requiring Unity Aneuploidy Screen (搜索) as the frontline screen for the pregnancy.
"Delivering an abnormal result to a patient and their partner is one of the most emotionally challenging moments in practice," Brown said. "Prior to Unity Confirm (搜索), most patients had no choice but to either proceed with an invasive test or sit with uncertainty. Unity Confirm changes that."
Brown characterized the test as "the biggest innovation in prenatal genetics testing in the last decade," representing what he describes as "a fundamentally different standard of care" rather than an incremental improvement.