BillionToOne, a molecular diagnostics company with a mission to create powerful and accurate tests that are accessible to all, announced today that a peer-reviewed research study of the UNITY Fetal Risk Screen has been published in Prenatal Diagnosis. The study demonstrates that the test accurately provides direct fetal insights into prevalent autosomal recessive conditions such as Cystic Fibrosis, Spinal Muscular Atrophy, and Alpha and Beta Hemoglobinopathies (including Sickle Cell Disease). “Given this high accuracy and an NPV of 99.8%, this workflow should be considered as an option for most of the general pregnant population.” the study’s authors concluded.
“The data not only corroborates previous results but also expands upon them by including a wider population of the general pregnant population,” said Oguzhan Atay, PhD, and CEO of BillionToOne. “This study provides strong evidence that the UNITY Fetal Risk Screen is primed to be the new standard in prenatal care.”
In the research, the performance of the UNITY Fetal Risk Screen was evaluated, and demonstrated a sensitivity of 96% in identifying an affected fetus as high risk. The study included patients from 811 clinical practices across 45 states in the U.S., resulting in a study cohort of more than 42,000 patients, representing a general obstetric population. Of these, approximately 18% were identified as carriers. A total of 528 clinical newborn outcomes for positive carrier pregnancies were collected, with at least 75 outcomes per condition.
UNITY Fetal Risk Screen can accurately assess fetal risk for common autosomal recessive conditions without requiring a blood sample from the male partner – the only commercially available test of its kind in the U.S. The risk determined by the UNITY Fetal Risk Screen accurately mirrors the actual risk to the fetus. All fetuses identified at the highest risk level (9 in 10) in the study were confirmed to have an affected child via newborn outcomes; a risk level of 9 in 10 is unattainable with traditional carrier screening tests. Of equal significance, the test’s negative predictive value (NPV) was 99.8%, which implies that a low risk result can be highly reliable.
