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

ADVANCE Study: Assay Development and Validation for Pre-Natal and Obstetric Conditions

Status

Recruiting

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT07643896

Acronym

ADVANCE

Enrollment

1000

Registered

2026-06-12

Start date

2026-01-10

Completion date

2028-06-01

Last updated

2026-06-12

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

22q11.2 Deletion Syndrome, Aneuploidy, Down Syndrome (Trisomy 21), Pregnant Individuals, Sex Chromosome Abnormalities, Trisomy 13, Trisomy 18

Keywords

pregnant, aneuploidy, NIPT, NIPS, circulating fetal cell

Brief summary

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.

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.

Interventions

None listed

Study design

Observational model

COHORT

Time perspective

PROSPECTIVE

Eligibility

Sex/Gender

FEMALE

Healthy volunteers

Inclusion criteria

* pregnant individuals between 10 and 20 weeks of gestation * singleton gestation

Exclusion criteria

\- active cancer

Design outcomes

Primary

Measure	Time frame	Description
Concordance	From enrollment and up to 12 months following enrollment	CFC results will be compared with prenatal diagnostic testing results, CVS, amniocentesis, products of conception, when available, and postnatal diagnostic testing.
Concordance with the accepted method of diagnosis	From enrollment and up to 12 months following enrollment	CFC results will be compared with prenatal diagnostic testing results, CVS, amniocentesis, products of conception, when available, and postnatal diagnostic testing. Results are considered concordant when CFC findings are consistent with the known or fetal or neonatal diagnosis.

Countries

United States

Contacts

CONTACTShannon O'Rourke Senior Research Manager, MS, CGC

unityregistry@billiontoone.com650-460-2551

PRINCIPAL_INVESTIGATORJulia Wynn, MS, MS, CGC

BillionToOne Inc.

Outcome results