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

NCT07643896 | Recruiting

• 1 other identifier: BTO-IRB-014
• Study Type: observational
• Target: 1,000
• Locations: 1 country
• Sites: 6

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.

Conditions

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

Keywords

pregnant; aneuploidy; NIPT; NIPS; circulating fetal cell

Outcome Measures

Primary Outcomes (2)

• Concordance

  CFC results will be compared with prenatal diagnostic testing results, CVS, amniocentesis, products of conception, when available, and postnatal diagnostic testing.

  From enrollment and up to 12 months following enrollment

• Concordance with the accepted method of diagnosis

  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.

  From enrollment and up to 12 months following enrollment

Study Arms (2)

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

Eligibility Criteria

• Sex: female
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

pregnant individuals between 10 and 20 weeks of gestation with singleton pregnancies

You may qualify if:

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

You may not qualify if:

• \- active cancer

Sponsors & Collaborators

• BillionToOne Inc.: lead

Study Sites (6)

Valley Perinatal Services

Phoenix, Arizona, 85004, United States

RECRUITING

San Gabriel Valley Perinatal Medical Group

West Covina, California, 91710, United States

RECRUITING

Sarasota Memorial Health Care System

Sarasota, Florida, 34239, United States

RECRUITING

Pediatrix Medical Group of Georgia

Atlanta, Georgia, 30342, United States

RECRUITING

Woman's Hospital

Baton Rouge, Louisiana, 70817, United States

RECRUITING

Pediatrix Medical Group

Houston, Texas, 773339, United States

RECRUITING

Biospecimen

Retention: SAMPLES WITH DNA

Whole blood, plasma, buffy and extracted DNA

MeSH Terms

Conditions

Aneuploidy; Down Syndrome; DiGeorge Syndrome; Trisomy 13 Syndrome; Trisomy 18 Syndrome; Sex Chromosome Aberrations

Condition Hierarchy (Ancestors)

Chromosome Aberrations; Pathologic Processes; Pathological Conditions, Signs and Symptoms; Intellectual Disability; Neurobehavioral Manifestations; Neurologic Manifestations; Nervous System Diseases; Abnormalities, Multiple; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Chromosome Disorders; Genetic Diseases, Inborn; 22q11 Deletion Syndrome; Craniofacial Abnormalities; Musculoskeletal Abnormalities; Musculoskeletal Diseases; Heart Defects, Congenital; Cardiovascular Abnormalities; Cardiovascular Diseases; Heart Diseases; Lymphatic Abnormalities; Lymphatic Diseases; Hemic and Lymphatic Diseases; Hypoparathyroidism; Parathyroid Diseases; Endocrine System Diseases

Study Officials

• Julia Wynn, MS, MS, CGC

  BillionToOne Inc.

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Shannon O'Rourke Senior Research Manager, MS, CGC

CONTACT

650-460-2551; unityregistry@billiontoone.com

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: May 12, 2026
• First Posted: June 12, 2026
• Study Start: January 10, 2026
• Primary Completion (Estimated): December 1, 2027
• Study Completion (Estimated): June 1, 2028
• Last Updated: June 12, 2026

Record last verified: 2026-06

Data Sharing

• IPD Sharing: Will share
• Shared Documents: ICF, CSR
• Time Frame: when data collection is complete and up to 2 years post-study completion date
• Access Criteria: Other researchers after the appropriate date use agreements are in place.

Locations

US (6)