Clinical Evaluation of the SEQureDx T21 Test In High Risk Pregnancies
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| ClinicalTrials.gov Identifier: NCT01555346 |
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Recruitment Status :
Completed
First Posted : March 15, 2012
Last Update Posted : April 20, 2016
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Sponsor:
Sequenom, Inc.
Information provided by (Responsible Party):
Sequenom, Inc.
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Brief Summary:
Whole blood samples will be collected from high-risk pregnant women to validate the clinical performance of the SEQureDx Trisomy 21 Test.
| Condition or disease |
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| Down Syndrome Fetal Aneuploidy |
| Study Type : | Observational |
| Actual Enrollment : | 3062 participants |
| Observational Model: | Case-Only |
| Time Perspective: | Prospective |
| Official Title: | A Clinical Study to Evaluate the Clinical Performance of the SEQureDx Trisomy 21 Test in the Detection of the Relative Quantity of Chromosome 21 in Circulating Cell-Free DNA Extracted From a Maternal Blood Sample Obtained From Pregnant Women With One or More High Risk Indicators for Fetal Chromosome 21 Aneuploidy |
| Study Start Date : | March 2012 |
| Actual Primary Completion Date : | October 2014 |
| Actual Study Completion Date : | December 2015 |
Resource links provided by the National Library of Medicine
MedlinePlus Genetics related topics:
Down syndrome
MedlinePlus related topics:
Down Syndrome
| Group/Cohort |
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High risk pregnant subjects undergoing an invasive procedure
Women with one or more high risk factors for fetal chromosome 21 aneuploidy scheduled to undergo an invasive procedure for fetal karyotype determination.
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High risk subjects electing not to undergo invasive procedure
Women with one or more high risk factors for fetal chromosome 21 aneuploidy who elect not to undergo an invasive procedure for fetal karyotype determination.
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Primary Outcome Measures :
- Clinical Assay Performance [ Time Frame: Performance of the assay will be based upon a single blood sample collected during the only study visit from a high risk pregnancy prior to the subject undergoing an invasive procedure (amniocentesis or CVS) to confirm fetal karyotype. ]Each subject will provide a single blood sample prior to undergoing an amniocentesis/CVS that will be processed to plasma and stored frozen until the end of the study. Frozen plasma samples will then be analyzed using the SEQureDx Trisomy Test and the sensitivity and specificity of the assay will be determined by comparing the plasma test results to the fetal karyotyping results obtained via aminiocentesis or CVS. A subject's participation ends after the results of the fetal karyotype are obtained and recorded.
Secondary Outcome Measures :
- Subject selection bias assessment [ Time Frame: A single blood sample will be collected at a single clinic visit from high risk pregnancies that refuse to undergo an invasive procedure. ]All subjects that enter the study are at high risk for fetal aneuploidy. However, sensitivity and specificity of the assay will be based upon those subjects that have a confirmed fetal karyotype obtained by amniocentesis/CVS. Subject selection bias assessment will be done by comparing SEQureDx Trisomy T21 Test results between women who agree to undergo an invasive procedure to obtain fetal karyotype and women who elect not to undergo an invasive procedure.
Biospecimen Retention: Samples With DNA
Whole blood specimens will be collected and processed to plasma. DNA will be extracted from the plasma.
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| Ages Eligible for Study: | 18 Years to 60 Years (Adult) |
| Sexes Eligible for Study: | Female |
| Accepts Healthy Volunteers: | No |
| Sampling Method: | Non-Probability Sample |
Study Population
Pregnant women between 10 and 22 weeks of gestation inclusive who have one or more high risk indicators for fetal chromosome 21 aneuploidy.
Criteria
Inclusion Criteria:
- Pregnant woman 18 years of age or older at 10 - 22 weeks gestation inclusive
- Subject has one or more high risk indicator for fetal chromosome 21 aneuploidy
- Subject provides signed and dated informed consent
- Subject agrees to provide a whole blood sample
Exclusion Criteria:
- Fetal demise at the time of the blood draw
- Previous specimen donation under this protocol
Information from the National Library of Medicine
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT01555346
Locations
Show 29 study locations
Sponsors and Collaborators
Sequenom, Inc.
Investigators
| Study Director: | Juan-Sebastian Saldivar, MD | Sequenom Laboratories |
Publications:
| Responsible Party: | Sequenom, Inc. |
| ClinicalTrials.gov Identifier: | NCT01555346 |
| Other Study ID Numbers: |
SQNM-T21-304 |
| First Posted: | March 15, 2012 Key Record Dates |
| Last Update Posted: | April 20, 2016 |
| Last Verified: | April 2016 |
Keywords provided by Sequenom, Inc.:
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Down syndrome fetal aneuploidy trisomy noninvasive prenatal test |
Additional relevant MeSH terms:
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Down Syndrome Aneuploidy Pathologic Processes Intellectual Disability Neurobehavioral Manifestations Neurologic Manifestations |
Nervous System Diseases Abnormalities, Multiple Congenital Abnormalities Chromosome Disorders Genetic Diseases, Inborn Chromosome Aberrations |