Clinical Trial: Clinical Evaluation of the SEQureDx T21 Test In High Risk Pregnancies

Study Status: Completed
Recruit Status: Completed
Study Type: Observational

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

Brief Summary: Whole blood samples will be collected from high-risk pregnant women to validate the clinical performance of the SEQureDx Trisomy 21 Test.

Detailed Summary:
Sponsor: Sequenom, Inc.

Current Primary Outcome: 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.


Original Primary Outcome: Same as current

Current Secondary Outcome: 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.


Original Secondary Outcome: Same as current

Information By: Sequenom, Inc.

Dates:
Date Received: February 15, 2012
Date Started: March 2012
Date Completion:
Last Updated: April 18, 2016
Last Verified: April 2016