Pregnant IndividualsADVANCENCT07643896
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
An observational study of Pregnant Individuals and Aneuploidy, run by BillionToOne Inc. at 9 sites in United States.
Trial 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… Read more about this study
- Who is it for?
- Any age, women only
- Conditions the study is for
- Pregnant Individuals, Aneuploidy, Down Syndrome (Trisomy 21)
- How many people
- 1,000 participants
- Where
- 9 sitesUnited States
- Study dates
- 10 Jan 2026to Jun 2028
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- Women only
- No healthy volunteers
- Child, Adult, Older adult
Study population: pregnant individuals between 10 and 20 weeks of gestation with singleton pregnancies
Who may be able to join
- pregnant individuals between 10 and 20 weeks of gestation
- singleton gestation
Who cannot join
- active cancer
Trial locations and contacts
9 sites in 1 country. Contact the study team or a site near you to ask about taking part.
9 sites in 1 country
United States9 sites, 9 recruiting
- Recruiting
Pediatrix Medical Group of Georgia
Atlanta, Georgia, 30342
Deena Yowler, NP, CNM, 404-847-1592, deena.yowler@pediatrix.com
Gretchen Koontz, MD
- Recruiting
Woman's Hospital
Baton Rouge, Louisiana, 70817
Bri Jones, MPH, 225-927-1300, Briasha.Jones@womans.org
Elizabeth Sutton, PhD
- Recruiting
UT Physicians Maternal-Fetal Medicine
Houston, Texas, 77030
Aarti Ramdaney, MS, CGC, 888-488-3627, Aarti.Ramdaney@uth.tmc.edu
Aarti Ramdaney, MS, CGC
- Recruiting
Pediatrix Medical Group
Houston, Texas, 773339
Olaide Ashimi Balogun, MD, 346-616-2777, olaide.ashimibalogun@pediatrix.com
Olaide Ashimi Balogun, MD
- Recruiting
Carnegie Imaging for Women
New York, New York, 10128
Josh Lando, (646) 525 3656, research@carnegiehealth.com
Nathan Fox, MD
- Recruiting
Valley Perinatal Services
Phoenix, Arizona, 85004
Research Department, 480-756-6000, research@valleyperinatal.com
Nayo Williams, MD
- Recruiting
Brar Practice
Riverside, California, 92506
Shelley Mueller, MS, CGC, brarofficegc1@gmail.com
Harbinder Brar, MD
- Recruiting
Sarasota Memorial Health Care System
Sarasota, Florida, 34239
Scarleth Andino-Funez, BSN, RN, 941-917-2627, Scarleth-AndinoFunez@smh.com
Larry C Matsumoto, MD
- Recruiting
San Gabriel Valley Perinatal Medical Group
West Covina, California, 91710
Richard Burwick, MD, (626) 337-4425, dr.burwick@sgvpmg.com
Richard Burwick, MD
About this study
Official title: ADVANCE Study: Assay Development and Validation for Pre-Natal and Obstetric Conditions
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.
Read the 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.
- Conditions
- Pregnant Individuals, Aneuploidy, Down Syndrome (Trisomy 21), 22q11.2 Deletion Syndrome, Trisomy 13, Trisomy 18
- Keywords
- pregnant, aneuploidy, NIPT, NIPS, circulating fetal cell
- Medical subject headings
- Aneuploidy, Down Syndrome, DiGeorge Syndrome, Trisomy 13 Syndrome, Trisomy 18 Syndrome, Sex Chromosome Aberrations
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| 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 |
What is being measured
The primary outcome is the main question the study is designed to answer.
Concordance
CFC results will be compared with prenatal diagnostic testing results, CVS, amniocentesis, products of conception, when available, and postnatal diagnostic testing.
Measured: 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.
Measured: From enrollment and up to 12 months following enrollment
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted12 Jun 2026
- Study start10 Jan 2026
- Primary completionDec 2027 (estimated)
- Study completionJun 2028 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Pregnant IndividualsStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 1,000 participants (estimated)
Sponsor and investigators
- Lead sponsor
- BillionToOne Inc.
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
- Investigators
- Julia Wynn, MS, MS, CGC, Principal investigator, BillionToOne Inc.
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07643896
- Sponsor's protocol ID
- BTO-IRB-014
- Acronym
- ADVANCE
- Status last verified
- Oct 2026
- First submitted
- 12 May 2026
- Last updated
- 15 Oct 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Yes: CFC result and diagnostic testing result
Study at a glance
From the registry record, last updated by the sponsor on 15 Oct 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- ADVANCE Study: Assay Development and Validation for Pre-Natal and Obstetric Conditions
- ClinicalTrials.gov ID
- NCT07643896
- Acronym / sponsor ID
- ADVANCE / BTO-IRB-014
- Conditions
- Pregnant Individuals, Aneuploidy, Down Syndrome (Trisomy 21), 22q11.2 Deletion Syndrome, Trisomy 13, Trisomy 18
- Keywords
- pregnant, aneuploidy, NIPT, NIPS, circulating fetal cell
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 1,000 participants (estimated)
- Lead sponsor
- BillionToOne Inc.Industry (pharma, biotech, devices)
- Study start
- 10 Jan 2026 (actual)
- Primary completion
- Dec 2027 (estimated)
- Study completion
- Jun 2028 (estimated)
- First posted
- 12 Jun 2026 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| 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 |
Who may qualify
- Sex
- Female only
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- pregnant individuals between 10 and 20 weeks of gestation with singleton pregnancies
Key inclusion criteria (2 listed)
- pregnant individuals between 10 and 20 weeks of gestation
- singleton gestation
Key exclusion criteria (1 listed)
- active cancer
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
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.
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 15 Oct 2026.
- Individual participant dataSharing planned: Yes. CFC result and diagnostic testing result
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Julia Wynn, MS, MS, CGC principal investigator
BillionToOne Inc.
9 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Pregnant Individuals and Aneuploidy, run by BillionToOne Inc. at 9 sites in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 2 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 15 Oct 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 9 sites in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Shannon O'Rourke Senior Research Manager, MS, CGC (650-460-2551, unityregistry@billiontoone.com), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Concordance (time frame: From enrollment and up to 12 months following enrollment). The study lists 2 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 15 Oct 2026.