ADVANCE Study: Assay Development and Validation for Pre-Natal and Obstetric Conditions
| Registry | NCT07643896, acronym ADVANCE |
|---|---|
| Status | Recruiting |
| Study type | Observational |
| Enrollment | 1000 (Estimated) |
| Sponsor | BillionToOne Inc. (Industry) |
| Conditions | Pregnant Individuals, Aneuploidy, Down Syndrome (Trisomy 21), 22q11.2 Deletion Syndrome, Trisomy 13, Trisomy 18, Sex Chromosome Abnormalities |
| Dates | start 2026-01-10, primary completion 2027-12-01 (estimated), completion 2028-06-01 (estimated), first posted 2026-06-12, last updated 2026-10-15 |
| Locations | 9 sites in United States |
Related Papers Related Patents Related Grants Related Experts
All trials for Pregnant Individuals All trials for Aneuploidy
The goal of the ADVANCE (Assay Development and Validation for Pre-Natal and Obstetric Conditions) study is to compare the concordance of results of a novel non-invasive circulating fetal cell (CFC) assay to the results of prenatal invasive diagnostic testing or postnatal genetic and clinical diagnosis of the resulting neonate. This is a prospective study of pregnant individuals.
BillionToOne Inc. is conducting a large prospective study to evaluate the performance of a non-invasive circulating fetal cell (CFC) assay. Circulating fetal cells, rare, intact trophoblast cells of placental origin present in maternal blood, offer a unique opportunity to directly analyze fetal genetic material without the need for invasive procedures. These cells are most abundant during the first trimester of pregnancy.
Building on this biology, the investigators developed a circulating fetal cell assay (UNITY Confirm) that isolates fetal-derived placenta cells from maternal blood and performs single-cell genomic analysis to assess chromosomal copy number. By combining cell-type-specific markers and genotyping to distinguish fetal from maternal cells, this approach enables direct evaluation of fetal chromosomal status, unlike cfDNA methods that rely on analysis of mixed DNA fragments.
This prospective study enrolls pregnant individuals between 10 and 20 weeks of gestation with singleton pregnancies and aims to include over 1,000 participants. CFC testing results are compared to prenatal or postnatal diagnostic outcomes.
| Arm | Type | Interventions | Description |
|---|---|---|---|
| High Risk | Pregnant individuals between 10 and 20 weeks of gestation with singleton pregnancies and who have a clinical indication for CFC testing, such as high-risk cfDNA results for common aneuploidies, copy number variants including 22q11.2, or sex chromosome aneuploidies | ||
| General Risk | Pregnant individuals between 10 and 20 weeks of gestation with singleton pregnancies (excluding gestational surrogates) who do not have a clinical indication for CFC and are undergoing prenatal diagnostic testing |
Sex: Female
Inclusion Criteria: * pregnant individuals between 10 and 20 weeks of gestation * singleton gestation Exclusion Criteria: \- active cancer
| Facility | City | Country | Status |
|---|---|---|---|
| Valley Perinatal Services | Phoenix, Arizona | United States | Recruiting |
| Brar Practice | Riverside, California | United States | Recruiting |
| San Gabriel Valley Perinatal Medical Group | West Covina, California | United States | Recruiting |
| Sarasota Memorial Health Care System | Sarasota, Florida | United States | Recruiting |
| Pediatrix Medical Group of Georgia | Atlanta, Georgia | United States | Recruiting |
| Woman's Hospital | Baton Rouge, Louisiana | United States | Recruiting |
| Carnegie Imaging for Women | New York, New York | United States | Recruiting |
| UT Physicians Maternal-Fetal Medicine | Houston, Texas | United States | Recruiting |
| Pediatrix Medical Group | Houston, Texas | United States | Recruiting |