Clinical Evaluation of the SEQureDx T21 Test In High Risk Pregnancies

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

Status

Completed

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT01555346

Enrollment

3062

Registered

2012-03-15

Start date

2012-03-31

Completion date

2015-12-31

Last updated

2016-04-20

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Down Syndrome, Fetal Aneuploidy

Keywords

Down syndrome, fetal aneuploidy, trisomy, noninvasive prenatal test

Brief summary

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

Interventions

None listed

Study design

Observational model

CASE_ONLY

Time perspective

PROSPECTIVE

Eligibility

Sex/Gender

FEMALE

Age

18 Years to 60 Years

Healthy volunteers

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

Design outcomes

Primary

Measure	Time frame	Description
Clinical Assay Performance	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

Measure	Time frame	Description
Subject selection bias assessment	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.

Countries

Canada, United States

Outcome results