Trisomy 21MAPSNCT01852708
Development of Non-invasive Prenatal Screening Test for Microdeletions Based on Fetal DNA Isolated From Maternal Blood
An observational study of Trisomy 21 and Trisomy 18, run by Natera, Inc. at 9 sites in 3 countries.
Trial summary
The purpose of this study is to collect maternal blood samples from pregnant women carrying a fetus with a confirmed diagnosis of chromosomal abnormality or genetic disorder including microdeletions in order to further develop a non-invasive prenatal screening test based on fetal DNA isolated from maternal blood. Read more about this study
- Who is it for?
- Ages 18 years and olderHealthy volunteers can take part
- Conditions the study is for
- Trisomy 21, Trisomy 18, Trisomy 13
- How many people
- 1,059 participants
- Where
- 9 sitesin 3 countries
- Study dates
- Nov 2012to Oct 2020
- 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
- All sexes
- Healthy volunteers accepted
- Adult, Older adult
Study population: Pregnant women
Who may be able to join
- Age 18 or older at enrollment
- Gestation age of at least 9 weeks, 0 days by best obstetrical estimate
- One or more fetuses with a clinically confirmed diagnosis of a genetic variant of interest via karyotype, FISH, chromosomal microarray or other genetic assay AND/OR
- One or more fetuses with any variant of fetal structure that is expected to require medical or surgical intervention in the newborn period, shorten lifespan, affect intellectual development or otherwise indicate a genetic anomaly AND/OR
- Positive high risk noninvasive prenatal screening or serum screening result
- Able to provide informed consent
Who cannot join
- •Maternal history of bone marrow or organ transplantation
Trial locations and contacts
9 sites in 3 countries.
9 sites in 3 countries
United States7 sites
Dr. Meltzer Clinic
Houston, Texas, 77054
Saint Peter's University Hospital
New Brunswick, New Jersey, 08901
Columbia University
New York, New York, 10032
The Children's Hospital of Philadelphia
Philadelphia, Pennsylvania, 19104
Natera, Inc.
San Carlos, California, 94070
MFM Group of Southern CA
San Gabriel, California, 91776
Washington Women's Wellness Center
Washington D.C., District of Columbia, 20010
About this study
Official title: Development of Non-invasive Prenatal Diagnostic Test for Microdeletion/Microduplication and Other Genetic Disorders Based on Fetal DNA Isolated From Maternal Blood
The purpose of this study is to collect maternal blood samples from pregnant women carrying a fetus with a confirmed diagnosis of chromosomal abnormality or genetic disorder including microdeletions in order to further develop a non-invasive prenatal screening test based on fetal DNA isolated from maternal blood.
Read the detailed description
The goal of this study is to further develop a non-invasive prenatal blood test that can diagnose genetic disorders in the fetus by looking at fetal DNA (genetic material) found in the mother's bloodstream during pregnancy.
Women carrying a fetus diagnosed with microdeletions/microduplications (small missing or extra pieces of DNA that can cause problems), aneuploidy (trisomy 21, 18, or 13) or other genetic disorders will be asked to participate.
If this study is successful, it will reduce the need for invasive procedures during pregnancy such as amniocentesis and chorionic villus sampling (CVS) but still enable women to find out accurate information regarding their baby's health early in the pregnancy.
- Keywords
- 22q, 1p36, Angelman, Cri-du-chat, Prader-Willi, DiGeorge, Turner syndrome, Patau syndrome, Edwards syndrome, Down syndrome
- Medical subject headings
- Down Syndrome, Trisomy 18 Syndrome, Trisomy 13 Syndrome, Sex Chromosome Aberrations, Turner Syndrome
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 |
|---|---|---|
| Pregnant Women | Women and their partners (presumed biological father of the fetus) who are currently pregnant and carrying a fetus that has been diagnosed with a microdeletion/duplication syndrome, aneuploidy or another genetic disorder (positive karyotype result or positive result on microarray test). |
What is being measured
The primary outcome is the main question the study is designed to answer.
Sensitivity and Specificity of testing
Sensitivity and Specificity of the test to diagnose microdeletions (eg. 22q and 5p-) and aneuploidy in a fetus at chromosomes 13, 18, 21, X and Y.
Measured: 1 year
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted14 May 2013 (estimated)
- Study startNov 2012
- Primary completionOct 2020
- Study completionOct 2020
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Trisomy 21Studies 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
- 1,059 participants (actual)
Sponsor and investigators
- Lead sponsor
- Natera, Inc.
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
- Investigators
- Zachary Demko, PhD, Principal investigator, Natera, Inc.
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT01852708
- Sponsor's protocol ID
- 12-014-NPT
- Acronym
- MAPS
- Status last verified
- Dec 2020
- First submitted
- 6 May 2013
- Last updated
- 30 Dec 2020
- Results posted
- No
- Data monitoring committee
- No
Study at a glance
From the registry record, last updated by the sponsor on 30 Dec 2020. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Development of Non-invasive Prenatal Diagnostic Test for Microdeletion/Microduplication and Other Genetic Disorders Based on Fetal DNA Isolated From Maternal Blood
- ClinicalTrials.gov ID
- NCT01852708
- Acronym / sponsor ID
- MAPS / 12-014-NPT
- Keywords
- 22q, 1p36, Angelman, Cri-du-chat, Prader-Willi, DiGeorge, Turner syndrome, Patau syndrome
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 1,059 participants (actual)
- Lead sponsor
- Natera, Inc.Industry (pharma, biotech, devices)
- Study start
- Nov 2012 (actual)
- Primary completion
- Oct 2020 (actual)
- Study completion
- Oct 2020 (actual)
- First posted
- 14 May 2013 (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 collect maternal blood samples from pregnant women carrying a fetus with a confirmed diagnosis of chromosomal abnormality or genetic disorder including microdeletions in order to further develop a non-invasive prenatal screening test based on fetal DNA isolated from maternal blood.
Detailed description
The goal of this study is to further develop a non-invasive prenatal blood test that can diagnose genetic disorders in the fetus by looking at fetal DNA (genetic material) found in the mother's bloodstream during pregnancy.
Women carrying a fetus diagnosed with microdeletions/microduplications (small missing or extra pieces of DNA that can cause problems), aneuploidy (trisomy 21, 18, or 13) or other genetic disorders will be asked to participate.
If this study is successful, it will reduce the need for invasive procedures during pregnancy such as amniocentesis and chorionic villus sampling (CVS) but still enable women to find out accurate information regarding their baby's health early in the pregnancy.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Pregnant Women | – | –Women and their partners (presumed biological father of the fetus) who are currently pregnant and carrying a fetus that has been diagnosed with a microdeletion/duplication syndrome, aneuploidy or another genetic disorder (positive karyotype result or positive result on microarray test). |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Adult, Older adult
- Study population
- Pregnant women
Key inclusion criteria (6 listed)
- Age 18 or older at enrollment
- Gestation age of at least 9 weeks, 0 days by best obstetrical estimate
- One or more fetuses with a clinically confirmed diagnosis of a genetic variant of interest via karyotype, FISH, chromosomal microarray or other genetic assay AND/OR
- One or more fetuses with any variant of fetal structure that is expected to require medical or surgical intervention in the newborn period, shorten lifespan, affect intellectual development or otherwise indicate a genetic anomaly AND/OR
- Positive high risk noninvasive prenatal screening or serum screening result
Key exclusion criteria (1 listed)
- •Maternal history of bone marrow or organ transplantation
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
Sensitivity and Specificity of testing
Time frame: 1 year
Sensitivity and Specificity of the test to diagnose microdeletions (eg. 22q and 5p-) and aneuploidy in a fetus at chromosomes 13, 18, 21, X and Y.
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 30 Dec 2020.
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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.
Zachary Demko, PhD principal investigator
Natera, Inc.
9 sites in 3 countries: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Trisomy 21 and Trisomy 18, run by Natera, Inc. at 9 sites in 3 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 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: finished, as of the sponsor's last update on 30 Dec 2020. 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, Spain, Taiwan. 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?
Sensitivity and Specificity of testing (time frame: 1 year). 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 30 Dec 2020.