Down SyndromeNCT01429389
Specimen Collection From Pregnant Women at Increased Risk for Fetal Aneuploidy
An observational study of Down Syndrome and Fetal Aneuploidy, run by Sequenom, Inc. at 14 sites in 2 countries.
Trial summary
The specimen collection is designed for the purpose of the development of a noninvasive prenatal test for T21. Read more about this study
- Who is it for?
- Ages 18 years and older, women only
- Conditions the study is for
- Down Syndrome, Fetal Aneuploidy
- How many people
- 2,000 participants
- Where
- 14 sitesin 2 countries
- Study dates
- May 2011to Mar 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 18 years and older
- Women only
- No healthy volunteers
- Adult, Older adult
Study population: Pregnant women between 10 and 22 weeks of gestation who are scheduled to undergo a CVS or amniocentesis procedure and will receive the fetal FISH, karyotype and/or QF-PCR results from the procedure.
Who may be able to join
- pregnant between 10 and 22 weeks gestation
- 18 years of age or older
- provides signed and dated informed consent
- subject is at increased risk for fetal aneuploidy
- subject is willing to undergo a CVS and/or amniocentesis procedure for the purpose of genetic analysis
- subject agrees to provide the genetic results of the invasive procedure
Who cannot join
- Fetal demise at time of specimen sampling
- Previous sample donation under this protocol
Trial locations and contacts
14 sites in 2 countries. Contact the study team or a site near you to ask about taking part.
14 sites in 2 countries
United States12 sites, 12 recruiting
- Recruiting
University of Alabama Birmingham
Birmingham, Alabama, 35294
Rachel Copper, 205 934-5509, rachel.copper@obgyn.uab.edu
Joseph Biggio, MD
- Recruiting
The Cooper Health System
Camden, New Jersey
Clare Hanson, hansen-clare@cooperhealth.edu
Meena Khandelwal, MD
- Recruiting
Medical University of South Carolina
Charleston, South Carolina, 29466
Betty Oswald, 843 792-0347, oswaldbw@musc.edu
Christopher Robinson, MD
- Recruiting
Reproductive Genetics Institute
Chicago, Illinois, 60602
Denise Ginsberg, 773 472-4900
Norman Ginsberg, MD
- Recruiting
Henry Ford Hospital
Detroit, Michigan, 48202
Ellen Martindell, 313 916-3190, emartin1@hfhs.org
Jacquelyn Roberson, MD
- Recruiting
Spectrum Health
Grand Rapids, Michigan, 49503
Yvonne Edgerly, 616 391-5066
Asad Sheikh, MD
- Recruiting
University of Iowa Health Care
Iowa City, Iowa, 52242
Diedre Fleener, 319 356-2913, deidre-fleener@uiowa.edu
Kristi Borowski, MD
- Recruiting
Cedars-Sinai Medical Center
Los Angeles, California, 90048
Deebra Smith, MD, 310- 423-5860
John Williams, MD
- Recruiting
Sharp-Rees Stealy Medical Group
San Diego, California, 92101
Mary LaPage, 619 446-1624
Denis Tarakjian, MD
- Recruiting
UCSD
San Diego, California, 92121
Jason Chibuck, jchibuck@ucsd.edu
Andrew Hull, MD
- Recruiting
Women's Health Care Research
San Diego, California, 92123
Nora Martinez, 858 505-8672, research@womenwellness.com
Rovena Reagan, MD
- Recruiting
Specialty Obstetrics of San Diego
San Diego, California, 92130
Deborah Malone, 858 794-7700, d.malone@specialtyobstetrics.com
David Dowling, MD
Canada2 sites, 2 recruiting
- Recruiting
IWK Health Centre
Halifax, Nova Scotia, B3K 6R8
Cora Fanning, 902 470-7158, cora.fanning@iwk.nshealth.ca
Jo-Ann Brock, MD
- Recruiting
North York General Hospital
Toronto, Ontario
Clare Gibbons, 416 756-6788, clare.gibbons@nygh.on.ca
Wendy Meschino, MD
About this study
Official title: Collection of Whole Blood Specimens From Pregnant Women at Increased Risk of Fetal Chromosomal Abnormality for Use in Development of a Noninvasive Prenatal Test in the Detection of the Relative Quantity of Chromosomal Material in Circulating Cell-Free DNA Extracted From Maternal Plasma
The specimen collection is designed for the purpose of the development of a noninvasive prenatal test for T21.
Read the detailed description
To collect specimens for the purpose of developing a prenatal aneuploidy test. The test will analyze circulating cell free fetal (ccff) nucleic acid from blood samples from pregnant women who have an increased risk indicator/s for fetal chromosomal aneuploidy and are undergoing invasive prenatal diagnosis by chorionic villus sampling (CVS) and/or genetic amniocentesis. The results of the ccff aneuploidy test will be compared to the chromosomal analysis obtained via CVS or genetic amniocentesis.
- Conditions
- Down Syndrome, Fetal Aneuploidy
- Keywords
- Down syndrome, fetal aneuploidy, trisomy, noninvasive screening test
- Medical subject headings
- Down Syndrome, Trisomy
What is being measured
The primary outcome is the main question the study is designed to answer.
Collect samples and data for assay validation.
Sensitivity and Specificity
Measured: 9-24 weeks of gestatational age
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted7 Sep 2011 (estimated)
- Study startMay 2011
- Primary completionDec 2027 (estimated)
- Study completionMar 2028 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Down SyndromeStudies 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
- Case only
- Time perspective
- Prospective
- Enrolment
- 2,000 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Sequenom, Inc.
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
- Investigators
- Daniel Grosu, MD, Study director, Sequenom, Inc.
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT01429389
- Sponsor's protocol ID
- SQNM-T21-107
- Status last verified
- Sep 2026
- First submitted
- 2 Sep 2011
- Last updated
- 9 Sep 2026
- Results posted
- No
- Data monitoring committee
- No
- Individual data sharing
- No: Samples are used for research and development of a noninvasive prenatal test. However, samples used for publications will have data shared as defined by journal.
Study at a glance
From the registry record, last updated by the sponsor on 9 Sep 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Collection of Whole Blood Specimens From Pregnant Women at Increased Risk of Fetal Chromosomal Abnormality for Use in Development of a Noninvasive Prenatal Test in the Detection of the Relative Quantity of Chromosomal Material in Circulating Cell-Free DNA Extracted From Maternal Plasma
- ClinicalTrials.gov ID
- NCT01429389
- Acronym / sponsor ID
- SQNM-T21-107
- Conditions
- Down Syndrome, Fetal Aneuploidy
- Keywords
- Down syndrome, fetal aneuploidy, trisomy, noninvasive screening test
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 2,000 participants (estimated)
- Lead sponsor
- Sequenom, Inc.Industry (pharma, biotech, devices)
- Study start
- May 2011 (actual)
- Primary completion
- Dec 2027 (estimated)
- Study completion
- Mar 2028 (estimated)
- First posted
- 7 Sep 2011 (estimated)
- 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 specimen collection is designed for the purpose of the development of a noninvasive prenatal test for T21.
Detailed description
To collect specimens for the purpose of developing a prenatal aneuploidy test. The test will analyze circulating cell free fetal (ccff) nucleic acid from blood samples from pregnant women who have an increased risk indicator/s for fetal chromosomal aneuploidy and are undergoing invasive prenatal diagnosis by chorionic villus sampling (CVS) and/or genetic amniocentesis. The results of the ccff aneuploidy test will be compared to the chromosomal analysis obtained via CVS or genetic amniocentesis.
Study design
- Observational model
- Case only
- Time perspective
- Prospective
Who may qualify
- Ages
- 18 years and older
- Sex
- Female only
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
- Study population
- Pregnant women between 10 and 22 weeks of gestation who are scheduled to undergo a CVS or amniocentesis procedure and will receive the fetal FISH, karyotype and/or QF-PCR results from the procedure.
Key inclusion criteria (6 listed)
- pregnant between 10 and 22 weeks gestation
- 18 years of age or older
- provides signed and dated informed consent
- subject is at increased risk for fetal aneuploidy
- subject is willing to undergo a CVS and/or amniocentesis procedure for the purpose of genetic analysis
Key exclusion criteria (2 listed)
- Fetal demise at time of specimen sampling
- Previous sample donation under this protocol
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
Collect samples and data for assay validation.
Time frame: 9-24 weeks of gestatational age
Sensitivity and Specificity
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 9 Sep 2026.
- Individual participant dataSharing planned: No. Samples are used for research and development of a noninvasive prenatal test. However, samples used for publications will have data shared as defined by journal.
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Down Syndrome
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.
Daniel Grosu, MD study director
Sequenom, Inc.
14 sites in 2 countries: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Down Syndrome and Fetal Aneuploidy, run by Sequenom, Inc. at 14 sites in 2 countries.
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 6 inclusion and 2 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 9 Sep 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 14 sites in United States, Canada. 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?
Each site lists its own contact: choose the nearest one under Trial locations. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Collect samples and data for assay validation. (time frame: 9-24 weeks of gestatational age). 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 9 Sep 2026.