Clinical Evaluation of the SEQureDx T21 Test In High Risk Pregnancies
Whole blood samples will be collected from high-risk pregnant women to validate the clinical performance of the SEQureDx Trisomy 21 Test.
|Study Design:||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|
- 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. ] [ Designated as safety issue: No ]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.
- 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. ] [ Designated as safety issue: No ]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.
|Study Start Date:||March 2012|
|Estimated Study Completion Date:||September 2014|
|Estimated Primary Completion Date:||August 2014 (Final data collection date for primary outcome measure)|
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.
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.
|Contact: Allan T Bombard, MD, MBA||(858) 202-9000|
|Contact: Graham P McLennan, MS|
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|Study Director:||Allan T Bombard, MD, MBA||Sequenom, Inc.|