Ann Gynecol Obstetr Res | Volume 7, Issue 1 | Research Article | Open Access
Wynn J*, Rego S, Fang J, Alford B, Carter R and Hoskovec J
BillionToOne Inc, Menlo Park, California, USA
*Correspondance to: Julia Wynn
Fulltext PDFIntroduction: BillionToOne developed and launched the UNITY Aneuploidy Screen, a Non- Invasive Prenatal Test (NIPT) that uses Next-Generation Sequencing (NGS) to detect autosomal trisomies and sex chromosome aneuploidies from cell-free DNA.
Methods: In this study, we provide an overview of the clinical performance of the UNITY Aneuploidy Screen. Neonatal and fetal outcomes were obtained from pregnancies that had the UNITY Aneuploidy Screen as part of clinical care, and performance analytics were calculated.
Results: The median turnaround time was 4 days, and more than 99% of tests had an informative fetal risk result (1.3% initial no-call rate and 0.15% no-call rate after redraw). The outcomes cohort included 1,691 pregnancies with an average maternal age of 29 years. The sensitivity for autosomal trisomies was 99.7% (95% CI: 98.3%-99.7%) and specificity was 99.9% (95% CI: 73.4%-100%). The PPV for autosomal trisomies was 90.8% (95% CI: 85.9%-95.78%) for the full cohort and 94.6% (95% CI: 89.4%-99.7%) for individuals 35 years or older.
Conclusion: These data demonstrate the UNITY Aneuploidy Screen has excellent performance and is comparable or superior to other commercially available aneuploidy screens. Furthermore, despite having a younger study sample (average age at delivery of 29 years with 80% under the age of 35 at delivery), the autosomal trisomy PPV was on par with PPVs reported in other studies with maternal ages averaging 35 years and was higher than the PPVs listed by ACOG 226 Practice Bulletin.
Cell-Free DNA (cfDNA); Next-Generation Sequencing (NGS); Noninvasive Prenatal Testing (NIPT); Negative Predictive Value (NPV); Positive Predictive Value (PPV)
Wynn J, Rego S, Fang J, Alford B, Carter R, Hoskovec J. Performance Characteristics of a Next Generation Sequencing-Based cfDNA Assay for Common Aneuploidies in a General Risk Population. Ann Gynecol Obstetr Res. 2024; 7(1): 1027..