The ADVANCE (Assay Development and Validation for Pre-Natal and Obstetric Conditions) Study is the Largest U.S.-Based Prospective Study Demonstrating a Circulating Fetal Cell (CFC) Based Approach to Non-invasive Fetal Risk Assessment
Purpose
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.
Conditions
- Pregnant Individuals
- Aneuploidy
- Down Syndrome (Trisomy 21)
- 22q11.2 Deletion Syndrome
- Trisomy 13
- Trisomy 18
- Sex Chromosome Abnormalities
Eligibility
- Eligible Ages
- All ages
- Eligible Sex
- Female
- Accepts Healthy Volunteers
- No
Inclusion Criteria
- pregnant individuals between 10 and 20 weeks of gestation - singleton gestation
Exclusion Criteria
- active cancer
Study Design
- Phase
- Study Type
- Observational
- Observational Model
- Cohort
- Time Perspective
- Prospective
Arm Groups
| Arm | Description | Assigned Intervention |
|---|---|---|
| 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 |
Recruiting Locations
Phoenix, Arizona 85004
West Covina, California 91710
Sarasota, Florida 34239
Atlanta, Georgia 30342
Baton Rouge, Louisiana 70817
Houston, Texas 773339
More Details
- Status
- Recruiting
- Sponsor
- BillionToOne Inc.
Study Contact
Shannon O'Rourke Senior Research Manager, MS, CGC650-460-2551
unityregistry@billiontoone.com
Detailed Description
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.