Clinical Evaluation of the SEQureDx T21 Test In High Risk Pregnancies

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

Official Title
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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

Conditions
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Down Syndrome, Fetal Aneuploidy

Participation Criteria
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Eligibility Criteria
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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

Ages Eligible for Study
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Minimum Age: 18 Years
Maximum Age: 60 Years

Sexes Eligible for Study
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Female

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| High risk pregnant subjects undergoing an invasive procedure<br>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<br>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. | |

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Clinical Assay Performance | 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. | 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. | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Subject selection bias assessment | 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. | A single blood sample will be collected at a single clinic visit from high risk pregnancies that refuse to undergo an invasive procedure. | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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Down syndrome, fetal aneuploidy, noninvasive prenatal test, trisomy