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

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.

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Key information

Conditions

Pregnant Individuals 22q11 Deletion Syndrome 22q11.2 Deletion Syndrome Abnormalities, Multiple Aneuploidy Cardiovascular Abnormalities Cardiovascular Diseases Chromosome Aberrations Chromosome Disorders Congenital Abnormalities Congenital, Hereditary, and Neonatal Diseases and Abnormalities Craniofacial Abnormalities DiGeorge Syndrome Down Syndrome Down Syndrome (Trisomy 21) Endocrine System Diseases Genetic Diseases, Inborn Heart Defects, Congenital Heart Diseases Hemic and Lymphatic Diseases Hypoparathyroidism Intellectual Disability Lymphatic Abnormalities Lymphatic Diseases Musculoskeletal Abnormalities Musculoskeletal Diseases Nervous System Diseases Neurobehavioral Manifestations Neurologic Manifestations Parathyroid Diseases Pathologic Processes Pathological Conditions, Signs and Symptoms Sex Chromosome Aberrations Sex Chromosome Abnormalities Trisomy 13 Trisomy 13 Syndrome Trisomy 18 Trisomy 18 Syndrome

Sex eligibility

Female

Study type

Observational

Primary location

Valley Perinatal Services, Phoenix, Arizona, United States

About this study

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.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

pregnant individuals between 10 and 20 weeks of gestation
singleton gestation

Exclusion criteria

active cancer

Treatment and study plan

Primary outcomes

Concordance

Time frame: 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

Time frame: 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.

Study contacts

Contact information is provided by the study sponsor or research team.

Shannon O'Rourke Senior Research Manager, MS, CGC

CONTACT

[email protected]

650-460-2551

Sponsors and collaborators

Lead sponsor

BillionToOne Inc.

Industry

Registry information

Official study title

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

Acronym: ADVANCE

Important dates

Study start: 2026
Primary completion: 2027
Study completion: 2028
First posted: Jun 12, 2026
Registry last updated: Jun 12, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

Published trials that share one or more normalized conditions with this study.

Completed