Down SyndromeNCT00847990
Non-Invasive Screening for Fetal Aneuploidy
An observational study of Down Syndrome and Edwards Syndrome, run by Sequenom, Inc. at 25 sites in United States.
Trial summary
The purpose of this study is to determine if a laboratory test developed by the Sequenom Center for Molecular Medicine (SCMM) that uses a new marker found in the mother's blood can better identify pregnancies that have a child with a chromosome abnormality such as Down syndrome (Trisomy 21), Edwards syndrome (Trisomy… Read more about this study
- Who is it for?
- Ages 18 years and older, women only
- Conditions the study is for
- Down Syndrome, Edwards Syndrome
- What is being tested?
- Maternal blood screening test for fetal aneuploidy
- How many people
- 5,000 participants
- Where
- 25 sitesUnited States
- Study dates
- Mar 2009to Aug 2011
- Phase
- Observational
- Are there results?
- None posted in the registry
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 who are scheduled to undergo an amniocentesis or CVS procedure and will receive the fetal FISH and/or karyotype results from the procedure.
Who may be able to join
- Subject is willing to provide written informed consent
- Pregnant female with singleton gestation 18 years of age or older
- Subject agrees to provide a 20 to 30 mL venous blood sample
- Subject is one of the following: A) currently scheduled to undergo an amniocentesis and/or CVS procedure, OR B) currently in the first trimester of pregnancy and planning to undergo an amniocentesis in the second trimester
- Subject will receive results of a genetic analysis that includes evaluation of the fetus for aneuploidy
Who cannot join
- Subject lacks the capacity to provide informed consent
- Twins, triplets or other multiple gestation
Trial locations and contacts
25 sites in 1 country.
25 sites in 1 country
United States25 sites
Maternal Fetal Specialists - Northside Atlanta Geogia
Atlanta, Georgia, 303342
Obstetrix Medical Group of Washington, Eastside Maternal Fetal Medicine
Bellevue, Washington, 98004
Regional Obstetrical Consultants, Chattanooga Tennessee
Chattanooga, Tennessee, 37403
Obstetrix Medical Group - Colorado at Presbyterian/St. Luke's Center
Denver, Colorado, 80218
Obstetrix Medical Group Colorado - Antepartum Testing Unit at Rose Medical Center
Denver, Colorado, 80220
Maternal Fetal Specialist of John's Creek
Duluth, Georgia, 30097
Obstetrix Medical Group Colorada - Perinatal Resource Center at Swedish Medical Center
Englewood, Colorado, 80113
Obstetrix Medical Group of Kansas City, Missouri, Saint Luke's Perinatal Center
Kansas City, Missouri, 64111
Obstetrix Medical Group of Washington, MFM Clinic at Evergreen Medical Center
Kirkland, Washington, 98034
Regional Obstetrical Consultants, Knoxville Tennessee
Knoxville, Tennessee, 37920
Fetal Diagnostic Center
Laguna Hills, California, 92653
Center for Maternal Fetal Medicine - 7 Hills Office
Las Vegas, Nevada, 89052
Center for Maternal Fetal Medicine - Pinto Office
Las Vegas, Nevada, 89106
Center for Maternal Fetal Medicine - Post Road Office
Las Vegas, Nevada, 89148
Maternal Fetal Specialists - Gwinnett
Lawrenceville, Georgia, 30045
Obstetrix Medical Group - Colorado at Littleton Adventist Hospital Perinatal Care Center
Littleton, Colorado, 80122
Obstetrix Medical Group Colorado at Skyridge Medical Center
Lonetree, Colorado, 80124
Long Beach Memorial Medical Center - Magella Medical Group
Long Beach, California, 90806
Desert Good Samaritan Hospital
Mesa, Arizona, 85202
Banner Good Samaritan Hospital
Phoenix, Arizona, 85006
Phoenix Perinatal Associates, Phoenix Arizona Clinic
Phoenix, Arizona, 85014
Texas Prenatal Group of San Antonio
San Antonio, Texas, 78229
Obstetrix Medical Group of California - Hamilton
San Jose, California, 95124
Obstetrix Medical Group of Washington, Inc
Seattle, Washington, 98104-3405
Obstetric Perinatal Clinic Tucson (WOMB)
Tucson, Arizona, 85712
About this study
Official title: Non-Invasive Screening for Fetal Aneuploidy: A New Maternal Plasma Marker
The purpose of this study is to determine if a laboratory test developed by the Sequenom Center for Molecular Medicine (SCMM) that uses a new marker found in the mother's blood can better identify pregnancies that have a child with a chromosome abnormality such as Down syndrome (Trisomy 21), Edwards syndrome (Trisomy 18), or other chromosome abnormality.
- Conditions
- Down Syndrome, Edwards Syndrome
- Being tested
- Maternal blood screening test for fetal aneuploidy
- Keywords
- Down syndrome, aneuploidy, chromosome abnormality, amniocentesis, chorionic villus sampling, Laboratory Developed Test (LDT)
- Medical subject headings
- Down Syndrome, Trisomy 18 Syndrome, Aneuploidy, Chromosome Aberrations
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Maternal blood screening test for fetal aneuploidyOther
One blood draw of 20 to 30 mL
| Study group | Role | What they receive |
|---|---|---|
| Pregnant women | Pregnant women who are scheduled to undergo an amniocentesis or CVS procedure and will receive the fetal FISH and/or karyotype results from the procedure. Receives: Other: Maternal blood screening test for fetal aneuploidy |
What is being measured
The primary outcome is the main question the study is designed to answer.
Validate the prenatal aneuploidy LDT with blood samples from pregnant women who are undergoing invasive prenatal diagnosis
Measured: During the 1st and 2nd trimester of pregnancy
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted20 Feb 2009 (estimated)
- Study startMar 2009
- Primary completionApr 2011
- Study completionAug 2011
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
- Cross-sectional
- Enrolment
- 5,000 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Sequenom, Inc.
- Sponsor type
- Industry (pharma, biotech, devices)
- Collaborators
- Obstetrix
- Responsible party
- Sponsor
- Investigators
- Richard Porreco, MD, Principal investigator, Obstetrix Medical Group of ColoradoThomas J Garite, MD, Study director, Obstetrix
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT00847990
- Sponsor's protocol ID
- SQNM-T21-301
- Status last verified
- Sep 2011
- First submitted
- 18 Feb 2009
- Last updated
- 5 Sep 2011
- Results posted
- No
- Data monitoring committee
- No
Study at a glance
From the registry record, last updated by the sponsor on 5 Sep 2011. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Non-Invasive Screening for Fetal Aneuploidy: A New Maternal Plasma Marker
- ClinicalTrials.gov ID
- NCT00847990
- Acronym / sponsor ID
- SQNM-T21-301
- Conditions
- Down Syndrome, Edwards Syndrome
- Keywords
- Down syndrome, aneuploidy, chromosome abnormality, amniocentesis, chorionic villus sampling, Laboratory Developed Test (LDT)
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 5,000 participants (estimated)
- Lead sponsor
- Sequenom, Inc.Industry (pharma, biotech, devices)
- Collaborators
- Obstetrix
- Study start
- Mar 2009
- Primary completion
- Apr 2011 (actual)
- Study completion
- Aug 2011 (actual)
- First posted
- 20 Feb 2009 (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 purpose of this study is to determine if a laboratory test developed by the Sequenom Center for Molecular Medicine (SCMM) that uses a new marker found in the mother's blood can better identify pregnancies that have a child with a chromosome abnormality such as Down syndrome (Trisomy 21), Edwards syndrome (Trisomy 18), or other chromosome abnormality.
Study design
- Observational model
- Case only
- Time perspective
- Cross-sectional
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Pregnant women | – | Other: Maternal blood screening test for fetal aneuploidyPregnant women who are scheduled to undergo an amniocentesis or CVS procedure and will receive the fetal FISH and/or karyotype results from the procedure. |
Who may qualify
- Ages
- 18 years and older
- Sex
- Female only
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
- Study population
- Pregnant women who are scheduled to undergo an amniocentesis or CVS procedure and will receive the fetal FISH and/or karyotype results from the procedure.
Key inclusion criteria (5 listed)
- Subject is willing to provide written informed consent
- Pregnant female with singleton gestation 18 years of age or older
- Subject agrees to provide a 20 to 30 mL venous blood sample
- Subject is one of the following: A) currently scheduled to undergo an amniocentesis and/or CVS procedure, OR B) currently in the first trimester of pregnancy and planning to undergo an amniocentesis in the second trimester
- Subject will receive results of a genetic analysis that includes evaluation of the fetus for aneuploidy
Key exclusion criteria (2 listed)
- Subject lacks the capacity to provide informed consent
- Twins, triplets or other multiple gestation
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Maternal blood screening test for fetal aneuploidyOne blood draw of 20 to 30 mL | Other | Pregnant women |
Primary outcome
Validate the prenatal aneuploidy LDT with blood samples from pregnant women who are undergoing invasive prenatal diagnosis
Time frame: During the 1st and 2nd trimester of pregnancy
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 5 Sep 2011.
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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. This study is not recruiting at the moment.
Richard Porreco, MD principal investigator
Obstetrix Medical Group of Colorado
Thomas J Garite, MD study director
Obstetrix
25 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Down Syndrome and Edwards Syndrome, run by Sequenom, Inc. at 25 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 5 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: finished, as of the sponsor's last update on 5 Sep 2011. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 25 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?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Validate the prenatal aneuploidy LDT with blood samples from pregnant women who are undergoing invasive prenatal diagnosis (time frame: During the 1st and 2nd trimester of pregnancy). 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 5 Sep 2011.