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Recruiting NCT07643896

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

Observational Pregnant Individuals Aneuploidy Down Syndrome (Trisomy 21) 22q11.2 Deletion Syndrome

For patients and families

In plain language

An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.

What is being studied
This is an observational study: the protocol does not assign a study treatment.
Who it may be relevant to
Registry conditions: Pregnant Individuals, Aneuploidy, Down Syndrome (Trisomy 21), 22q11.2 Deletion Syndrome. Basic parameters: No limits · Female.
What needs checking
Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
Where it takes place
United States
Next step
Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
Official title

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

Overview

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.

Primary outcome measures

  • Concordance [Time frame: From enrollment and up to 12 months following enrollment]
  • Concordance with the accepted method of diagnosis [Time frame: From enrollment and up to 12 months following enrollment]

Eligibility criteria

Inclusion criteria

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

Exclusion criteria

\- active cancer

Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.

Healthy volunteers: No

Study design

Observational model
Cohort

Study locations

United States · 6 centers
  • Valley Perinatal Services — Phoenix
  • San Gabriel Valley Perinatal Medical Group — West Covina
  • Sarasota Memorial Health Care System — Sarasota
  • Pediatrix Medical Group of Georgia — Atlanta
  • Woman's Hospital — Baton Rouge
  • Pediatrix Medical Group — Houston

Identifiers

NCT: NCT07643896 · BTO-IRB-014

Primary sources (government registries)

View this study on ClinicalTrials.gov ↗