Trisomy 13PreNATUSNCT01545674
Prenatal Non-invasive Aneuploidy Test Utilizing SNPs Trial
An observational study of Trisomy 13 and Trisomy 18, run by Natera, Inc. at 29 sites in 6 countries.
Trial summary
This prospective blinded study will assess the diagnostic capability of an informatics enhanced SNP based technology (Parental Support) to identify pregnant women who are carrying a fetus with an aneuploidy from fee floating DNA in the maternal blood. Read more about this study
- Who is it for?
- Any age, women onlyHealthy volunteers can take part
- Conditions the study is for
- Trisomy 13, Trisomy 18, Trisomy 21
- What is being tested?
- Blood Draw
- Type of treatment
- Surgery or procedure
- How many people
- 937 participants
- Where
- 29 sitesin 6 countries
- Study dates
- Jan 2012to Mar 2023
- 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 Any age
- Women only
- Healthy volunteers accepted
- Child, Adult, Older adult
Study population: Pregnant Women
Who may be able to join
- Singleton pregnancy
- Gestational age between 8 weeks 0 days and 23 weeks, 6 days by best obstetrical estimate
- Mother has a high or moderate risk for trisomy
- Mother is planning to have or has had an amniocentesis or chorionic villus sampling (CVS) procedure
Who cannot join
- Unavailability of the father to provide a genetic sample (e.g. sperm donor, non-paternity)
- Egg donor used
- Mother or father have known chromosomal abnormalities (including known balanced translocations)
- Participation in the study in a previous pregnancy
- Pregnancy is a result of IVF with pre-implantation genetic diagnosis
Trial locations and contacts
29 sites in 6 countries.
29 sites in 6 countries
United States24 sites
Lehigh Valley Hospital
Allentown, Pennsylvania, 18103
University of Alabama
Birmingham, Alabama, 35233
Massachusetts General Hospital
Boston, Massachusetts, 02111
Tufts Medical Center
Boston, Massachusetts, 02111
NY Methodist Hospital
Brooklyn, New York, 11215
University of North Carolina
Chapel Hill, North Carolina, 27599
Carolinas Medical Center
Charlotte, North Carolina, 28232
University of South Carolina
Columbia, South Carolina, 29203
University of Texas Medical Branch
Galveston, Texas, 77555
Adventist Hinsdale Hospital
Hinsdale, Illinois, 60521
Indiana University
Indianapolis, Indiana, 46207
Cedars-Sinai Medical Center
Los Angeles, California, 90048
University of Wisconsin
Madison, Wisconsin, 53715
University of Miami
Miami, Florida, 33136
Madonna Perinatal
Mineola, New York, 11501
Yale University
New Haven, Connecticut, 06510
New York University
New York, New York, 10016
The Mount Sinai Hospital
New York, New York, 10029
Columbia University
New York, New York, 10032
Carnegie Imaging for Women
New York, New York, 10128
Montefiore Medical Center
New York, New York, 10467
Oregon Health and Science University
Portland, Oregon, 97239
California Pacific Medical Center
San Francisco, California, 94110
Stanford University
Stanford, California, 94305
About this study
Official title: Prenatal Non-invasive Aneuploidy Test Utilizing SNPs Trial (PreNATUS)
This prospective blinded study will assess the diagnostic capability of an informatics enhanced SNP based technology (Parental Support) to identify pregnant women who are carrying a fetus with an aneuploidy from fee floating DNA in the maternal blood.
Read the detailed description
First trimester screening is the current standard of care for pregnant women in the United States. Women with a high screening risk for trisomy then have invasive testing, which carries a risk of miscarriage, to definitively determine if the fetus has trisomy. Because of the high false negative rate of the first trimester screening, an unacceptable number of trisomic fetuses are not detected. Moreover, because of the high false positive rate, an unacceptable number of women undergo invasive follow up testing. Additional screening tests are needed that combine a high sensitivity, a low false positive rate, and minimal or no risk to the fetus.
- Conditions
- Trisomy 13, Trisomy 18, Trisomy 21, Aneuploidy
- Being tested
- Blood Draw
- Keywords
- Aneuploidy, Non-invasive Prenatal Diagnosis, Prenatal Blood Test, Prenatal Aneuploidy Screening, Trisomy 13, Trisomy 18, Trisomy 21, Trisomy, Down Syndrome, Turner Syndrome, Edwards Syndrome
- Medical subject headings
- Trisomy 13 Syndrome, Trisomy 18 Syndrome, Down Syndrome, Aneuploidy, Trisomy, Turner Syndrome
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Blood DrawProcedure or surgery
Blood will be drawn from the mother and father
| Study group | Role | What they receive |
|---|---|---|
| Pregnant Women Blood Draw | Pregnant Women with elevated risk of trisomic pregnancy to donate a blood sample through one time blood draw Receives: Procedure: Blood Draw |
What is being measured
The primary outcome is the main question the study is designed to answer.
Sensitivity and Specificity of the test to diagnose aneuploidy in a fetus at chromosomes 13, 18, 21, X and Y.
The primary objective is to determine the diagnostic capability of the test to detect autosomal aneuploidy (chromosomes 13, 18, 21) and sex aneuploidy (X and Y).
Measured: Between first trimester screening (10-14 weeks GA) and invasive testing (amniocentesis or CVS).
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted7 Mar 2012 (estimated)
- Study startJan 2012
- Primary completionApr 2014
- Study completionMar 2023
Why it stopped: Non-invasive Prenatal Screening CLIA test performance validated in other cohort. Decided samples not required, study aims achieved through other studies.
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Trisomy 13Studies 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
- 937 participants (actual)
Sponsor and investigators
- Lead sponsor
- Natera, Inc.
- Sponsor type
- Industry (pharma, biotech, devices)
- Collaborators
- Columbia University, George Washington University, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
- Responsible party
- Sponsor
- Investigators
- Ronald Wapner, MD, Principal investigator, Columbia University
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT01545674
- Sponsor's protocol ID
- GSN012B
- Other IDs
- 1R44HD062114
- Acronym
- PreNATUS
- Status last verified
- Mar 2023
- First submitted
- 1 Mar 2012
- Last updated
- 23 Mar 2023
- Results posted
- No
- Data monitoring committee
- Yes
- Individual data sharing
- No: A peer reviewed publication is planned from this study.
Study at a glance
From the registry record, last updated by the sponsor on 23 Mar 2023. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Prenatal Non-invasive Aneuploidy Test Utilizing SNPs Trial (PreNATUS)
- ClinicalTrials.gov ID
- NCT01545674
- Acronym / sponsor ID
- PreNATUS / GSN012B
- Conditions
- Trisomy 13, Trisomy 18, Trisomy 21, Aneuploidy
- Keywords
- Aneuploidy, Non-invasive Prenatal Diagnosis, Prenatal Blood Test, Prenatal Aneuploidy Screening, Trisomy 13, Trisomy 18, Trisomy 21, Trisomy
- Study type
- Observational
- Recruitment status
- TerminatedReason stopped: Non-invasive Prenatal Screening CLIA test performance validated in other cohort. Decided samples not required, study aims achieved through other studies.
- Enrolment
- 937 participants (actual)
- Lead sponsor
- Natera, Inc.Industry (pharma, biotech, devices)
- Collaborators
- Columbia University, George Washington University, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
- Study start
- Jan 2012
- Primary completion
- Apr 2014 (actual)
- Study completion
- Mar 2023 (actual)
- First posted
- 7 Mar 2012 (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.
This prospective blinded study will assess the diagnostic capability of an informatics enhanced SNP based technology (Parental Support) to identify pregnant women who are carrying a fetus with an aneuploidy from fee floating DNA in the maternal blood.
Detailed description
First trimester screening is the current standard of care for pregnant women in the United States. Women with a high screening risk for trisomy then have invasive testing, which carries a risk of miscarriage, to definitively determine if the fetus has trisomy. Because of the high false negative rate of the first trimester screening, an unacceptable number of trisomic fetuses are not detected. Moreover, because of the high false positive rate, an unacceptable number of women undergo invasive follow up testing. Additional screening tests are needed that combine a high sensitivity, a low false positive rate, and minimal or no risk to the fetus.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Pregnant Women Blood Draw | – | Procedure: Blood DrawPregnant Women with elevated risk of trisomic pregnancy to donate a blood sample through one time blood draw |
Who may qualify
- Sex
- Female only
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Pregnant Women
Key inclusion criteria (4 listed)
- Singleton pregnancy
- Gestational age between 8 weeks 0 days and 23 weeks, 6 days by best obstetrical estimate
- Mother has a high or moderate risk for trisomy
- Mother is planning to have or has had an amniocentesis or chorionic villus sampling (CVS) procedure
Key exclusion criteria (5 listed)
- Unavailability of the father to provide a genetic sample (e.g. sperm donor, non-paternity)
- Egg donor used
- Mother or father have known chromosomal abnormalities (including known balanced translocations)
- Participation in the study in a previous pregnancy
- Pregnancy is a result of IVF with pre-implantation genetic diagnosis
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 |
|---|---|---|
| Blood DrawBlood will be drawn from the mother and father | Procedure or surgery | Pregnant Women Blood Draw |
Primary outcome
Sensitivity and Specificity of the test to diagnose aneuploidy in a fetus at chromosomes 13, 18, 21, X and Y.
Time frame: Between first trimester screening (10-14 weeks GA) and invasive testing (amniocentesis or CVS).
The primary objective is to determine the diagnostic capability of the test to detect autosomal aneuploidy (chromosomes 13, 18, 21) and sex aneuploidy (X and Y).
Results and safety
The study was stopped early (reason given: Non-invasive Prenatal Screening CLIA test performance validated in other cohort. Decided samples not required, study aims achieved through other studies.). Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 23 Mar 2023.
- Individual participant dataSharing planned: No. A peer reviewed publication is planned from this study.
Related trials for Trisomy 13
RecruitingObservational study
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
Pregnant Individuals, Aneuploidy
Recruiting
Physical Activity and Community EmPOWERment Project
Intellectual Disability, Neurodevelopmental Disorders
Enrolling by invitation
Palliative Care Needs of Children With Rare Diseases and Their Families
Trisomy 13 Syndrome, Arthrogryposis Congenita Multiplex With Intestinal Atresia
Active, not recruitingObservational study
Evaluation of Fetal Bladder Emptying During the 11-14 Weeks' Ultrasound Examination as a Negative Predictive Marker for Chromosomal Abnormalities
Chromosomal Aneuploidies (e.g., Trisomy 21, Trisomy 18, Trisomy 13); Prenatal Screening Accuracy
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.
Ronald Wapner, MD principal investigator
Columbia University
29 sites in 6 countries: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Trisomy 13 and Trisomy 18, run by Natera, Inc. at 29 sites in 6 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 4 inclusion and 5 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: stopped early, as of the sponsor's last update on 23 Mar 2023. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 29 sites in United States, Canada, Ireland, Italy, South Korea and 1 more country. 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 was stopped early (reason given: Non-invasive Prenatal Screening CLIA test performance validated in other cohort. Decided samples not required, study aims achieved through other studies.). Results are not available in the source record.
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?
Sensitivity and Specificity of the test to diagnose aneuploidy in a fetus at chromosomes 13, 18, 21, X and Y. (time frame: Between first trimester screening (10-14 weeks GA) and invasive testing (amniocentesis or CVS).). 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 23 Mar 2023.