Clinical Evaluation of the SEQureDx T21… | Clinical Trial

Key information

Conditions

Down Syndrome Abnormalities, Multiple Aneuploidy Chromosome Aberrations Chromosome Disorders Chromosome Duplication Congenital Abnormalities Congenital, Hereditary, and Neonatal Diseases and Abnormalities Fetal Aneuploidy Genetic Diseases, Inborn Intellectual Disability Nervous System Diseases Neurobehavioral Manifestations Neurologic Manifestations Pathologic Processes Pathological Conditions, Signs and Symptoms Trisomy

Age range

18 year–60 year

Sex eligibility

Female

Study type

Observational

Primary location

North York General Hospital, Toronto, Ontario, Canada

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

Primary outcomes

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 outcomes

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.

Sponsors and collaborators

Lead sponsor

Sequenom, Inc.

Industry

Registry information

Official study 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

Important dates

Study start: 2012
Primary completion: 2014
Study completion: 2015
First posted: Mar 15, 2012
Registry last updated: Apr 20, 2016

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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