Chromosome 13 AneuploidyNIPDNCT01574781
Non-invasive Prenatal Diagnostic Validation Study
An observational study of Chromosome 13 Aneuploidy and Chromosome 18 Aneuploidy, run by Natera, Inc. at 1 site in United States.
Trial summary
The primary purpose of this study is to collect maternal blood samples from pregnant women to develop a non-invasive prenatal diagnostic 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
- Chromosome 13 Aneuploidy, Chromosome 18 Aneuploidy, Chromosome 21 Aneuploidy
- What is being tested?
- Blood draw and Cheek swab/Saliva Sampling
- Type of treatment
- Surgery or procedure
- How many people
- 1,781 participants
- Where
- 1 siteUnited States
- Study dates
- Sep 2011to Apr 2013
- 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: Healthy non-pregnant women, pregnant women, male relatives, women undergoing miscarriage, and children born to participating women
Who may be able to join
- Pregnant women who volunteer to donate blood sample during the first -, second- and/or third trimester
- The biological father of the child (or the father's brother and/or father) has to be at least 18 years of age and consent to his blood, buccal, or saliva collection.
- Pregnant women whose fetus was diagnosed with a chromosomal abnormality or genetic disorder by either amniocentesis or chorionic villus sampling who volunteer to donate a blood sample.
- Pregnant women who volunteer to donate a blood sample after their spontaneous miscarriage prior to undergoing D\&C procedure and who choose to utilize Natera's commercial products of conception molecular karyotyping service.
- Healthy volunteers (non-pregnant female and male) who volunteer to donate their blood sample.
- Umbilical cord blood or cheek swab/saliva samples from born children o Pregnant women who have participated in donating a blood sample during their pregnancy have the option to donate either an umbilical cord blood sample after child delivery, or a cheek swab or saliva sample from the born child using Natera's home kit.
Who cannot join
- Women carrying multiples
Trial locations and contacts
1 site in 1 country.
About this study
Official title: Development of Non-invasive Prenatal Diagnostic Test Based on Fetal DNA Isolated From Maternal Blood
The primary purpose of this study is to collect maternal blood samples from pregnant women to develop a non-invasive prenatal diagnostic test based on fetal DNA isolated from maternal blood.
Read the detailed description
The investigators will seek to enroll subjects to collect the following types of samples:
- Up to 2,000 maternal blood samples along with their corresponding paternal blood, buccal or saliva samples (1,000 required for final analysis).
- Up to 200 maternal blood samples from carrying a fetus with a confirmed chromosomal abnormality or genetic disorder, along with their corresponding paternal blood, buccal or saliva samples (50 required for final analysis). For women who opted for termination, a genetic sample of the fetus may also be collected.
- Up to 1,000 buccal or saliva samples from paternal grandfathers and/or the biological father's brothers.
- Up to 1,000 cord, buccal or saliva samples from the born children.
- Up to 40 blood samples (20 non-pregnant females and 20 males) from healthy volunteers (20 required for final analysis)
- Up to 400 blood samples from women undergoing D\&C procedure following a miscarriage along with corresponding paternal blood (or buccal or saliva samples) (200 required for final analysis).
- Conditions
- Chromosome 13 Aneuploidy, Chromosome 18 Aneuploidy, Chromosome 21 Aneuploidy, Sex Chromosome Aberrations, Other Microdeletions
- Being tested
- Blood draw, Cheek swab/Saliva Sampling
- Keywords
- Down syndrome, Trisomy 13, Trisomy 18, Microdeletions, Pregnancy, Non-invasive
- Medical subject headings
- Sex Chromosome Aberrations, Down Syndrome, Trisomy 13 Syndrome, Trisomy 18 Syndrome
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Blood drawProcedure or surgery
Also called Non-Invasive Prenatal Diagnosis, NIPD
Blood is drawn at the appropriate time given their cohort inclusion.
Cheek swab/Saliva SamplingProcedure or surgery
Also called Non-Invasive Prenatal Diagnosis, NIPD
In lieu of blood draw, male relatives may donate cheek swab or saliva sample. Children born to participating women can donate cheek swab or saliva sample soon after birth.
| Study group | Role | What they receive |
|---|---|---|
| Women with abnormal fetus | Women carrying fetus that is identified as chromosomally abnormal by CVS/Amniocentesis Receives: Procedure: Blood draw | |
| Women experiencing miscarriage | Women identified as miscarrying, prior to any D\&C or D\&E procedure Receives: Procedure: Blood draw | |
| Born children | The children born from women participating in other cohorts of the study. Receives: Procedure: Cheek swab/Saliva Sampling | |
| Male relatives | The male partners (and presumed biological father of any fetuses/children) of women participating in other cohorts of the study or the biological father's brother and/or father. Receives: Procedure: Blood draw; Procedure: Cheek swab/Saliva Sampling | |
| Non-pregnant women | Healthy women who are not pregnant Receives: Procedure: Blood draw | |
| Pregnant women | Not described Receives: Procedure: Blood draw |
What is being measured
The primary outcome is the main question the study is designed to answer.
Fetal chromosome abnormality from a maternal plasma sample
Maternal plasma will be drawn at the time at which they present while pregnant as long as they are at least 6 weeks along. Additional samples (for confirmation of chromosome makeup) may also be drawn on that fetus when fetal sampling is possible (termination, miscarriage) or on the child at or shortly after birth.
Measured: From date of initial blood draw until the date of pregnancy end (miscarriage/termination) or time of birth, whichever came first, assessed up to 10 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted10 Apr 2012 (estimated)
- Study startSep 2011
- Primary completionApr 2013
- Study completionApr 2013
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Chromosome 13 AneuploidyStudies 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
- Time perspective
- Prospective
- Enrolment
- 1,781 participants (actual)
Sponsor and investigators
- Lead sponsor
- Natera, Inc.
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
- Investigators
- Matthew Rabinowitz, PhD, Principal investigator, Natera, Inc.
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT01574781
- Sponsor's protocol ID
- GSN012
- Acronym
- NIPD
- Status last verified
- Jun 2013
- First submitted
- 2 Apr 2012
- Last updated
- 2 Jul 2013
- Results posted
- No
- Data monitoring committee
- No
Study at a glance
From the registry record, last updated by the sponsor on 2 Jul 2013. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Development of Non-invasive Prenatal Diagnostic Test Based on Fetal DNA Isolated From Maternal Blood
- ClinicalTrials.gov ID
- NCT01574781
- Acronym / sponsor ID
- NIPD / GSN012
- Conditions
- Chromosome 13 Aneuploidy, Chromosome 18 Aneuploidy, Chromosome 21 Aneuploidy, Sex Chromosome Aberrations, Other Microdeletions
- Keywords
- Down syndrome, Trisomy 13, Trisomy 18, Microdeletions, Pregnancy, Non-invasive
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 1,781 participants (actual)
- Lead sponsor
- Natera, Inc.Industry (pharma, biotech, devices)
- Study start
- Sep 2011
- Primary completion
- Apr 2013 (actual)
- Study completion
- Apr 2013 (actual)
- First posted
- 10 Apr 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.
The primary purpose of this study is to collect maternal blood samples from pregnant women to develop a non-invasive prenatal diagnostic test based on fetal DNA isolated from maternal blood.
Detailed description
The investigators will seek to enroll subjects to collect the following types of samples:
- Up to 2,000 maternal blood samples along with their corresponding paternal blood, buccal or saliva samples (1,000 required for final analysis).
- Up to 200 maternal blood samples from carrying a fetus with a confirmed chromosomal abnormality or genetic disorder, along with their corresponding paternal blood, buccal or saliva samples (50 required for final analysis). For women who opted for termination, a genetic sample of the fetus may also be collected.
- Up to 1,000 buccal or saliva samples from paternal grandfathers and/or the biological father's brothers.
- Up to 1,000 cord, buccal or saliva samples from the born children.
- Up to 40 blood samples (20 non-pregnant females and 20 males) from healthy volunteers (20 required for final analysis)
- Up to 400 blood samples from women undergoing D\&C procedure following a miscarriage along with corresponding paternal blood (or buccal or saliva samples) (200 required for final analysis).
Study design
- Time perspective
- Prospective
- Number of arms
- 6
| Arm | Type | Receives |
|---|---|---|
| Women with abnormal fetus | – | Procedure: Blood drawWomen carrying fetus that is identified as chromosomally abnormal by CVS/Amniocentesis |
| Women experiencing miscarriage | – | Procedure: Blood drawWomen identified as miscarrying, prior to any D\&C or D\&E procedure |
| Born children | – | Procedure: Cheek swab/Saliva SamplingThe children born from women participating in other cohorts of the study. |
| Male relatives | – | Procedure: Blood draw, Procedure: Cheek swab/Saliva SamplingThe male partners (and presumed biological father of any fetuses/children) of women participating in other cohorts of the study or the biological father's brother and/or father. |
| Non-pregnant women | – | Procedure: Blood drawHealthy women who are not pregnant |
| Pregnant women | – | Procedure: Blood draw |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Adult, Older adult
- Study population
- Healthy non-pregnant women, pregnant women, male relatives, women undergoing miscarriage, and children born to participating women
Key inclusion criteria (6 listed)
- Pregnant women who volunteer to donate blood sample during the first -, second- and/or third trimester
- The biological father of the child (or the father's brother and/or father) has to be at least 18 years of age and consent to his blood, buccal, or saliva collection.
- Pregnant women whose fetus was diagnosed with a chromosomal abnormality or genetic disorder by either amniocentesis or chorionic villus sampling who volunteer to donate a blood sample.
- Pregnant women who volunteer to donate a blood sample after their spontaneous miscarriage prior to undergoing D\&C procedure and who choose to utilize Natera's commercial products of conception molecular karyotyping service.
- Healthy volunteers (non-pregnant female and male) who volunteer to donate their blood sample.
Key exclusion criteria (1 listed)
- Women carrying multiples
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 drawAlso: Non-Invasive Prenatal Diagnosis, NIPDBlood is drawn at the appropriate time given their cohort inclusion. | Procedure or surgery | Male relatives, Non-pregnant women, Pregnant women, Women experiencing miscarriage, Women with abnormal fetus |
| Cheek swab/Saliva SamplingAlso: Non-Invasive Prenatal Diagnosis, NIPDIn lieu of blood draw, male relatives may donate cheek swab or saliva sample. Children born to participating women can donate cheek swab or saliva sample soon after birth. | Procedure or surgery | Born children, Male relatives |
Primary outcome
Fetal chromosome abnormality from a maternal plasma sample
Time frame: From date of initial blood draw until the date of pregnancy end (miscarriage/termination) or time of birth, whichever came first, assessed up to 10 months
Maternal plasma will be drawn at the time at which they present while pregnant as long as they are at least 6 weeks along. Additional samples (for confirmation of chromosome makeup) may also be drawn on that fetus when fetal sampling is possible (termination, miscarriage) or on the child at or shortly after birth.
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 2 Jul 2013.
Related trials for Chromosome 13 Aneuploidy
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
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.
Matthew Rabinowitz, PhD principal investigator
Natera, Inc.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Chromosome 13 Aneuploidy and Chromosome 18 Aneuploidy, run by Natera, Inc. at 1 site 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 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 2 Jul 2013. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site 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?
Fetal chromosome abnormality from a maternal plasma sample (time frame: From date of initial blood draw until the date of pregnancy end (miscarriage/termination) or time of birth, whichever came first, assessed up to 10 months). 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 2 Jul 2013.