Clinical Evaluation of the SEQureDx T21 Test In High Risk Pregnancies

• ClinicalTrials.gov Identifier: NCT01555346
• Recruitment Status: Completed
• First Posted: March 15, 2012
• Last Update Posted: April 20, 2016
• Sponsor: Sequenom, Inc.
• Information provided by (Responsible Party): Sequenom, Inc.

Study Description

Brief Summary:

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

Condition or disease
Down Syndrome; Fetal Aneuploidy

Study Design

• Study Type: Observational
• Actual Enrollment: 3062 participants
• 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
• Study Start Date: March 2012
• Actual Primary Completion Date: October 2014
• Actual Study Completion Date: December 2015

Groups and Cohorts

Group/Cohort
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.

Outcome Measures

Primary Outcome Measures :

1. 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 Outcome Measures :

1. 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.

Biospecimen Retention:   Samples With DNA

Whole blood specimens will be collected and processed to plasma. DNA will be extracted from the plasma.

Eligibility Criteria

• Ages Eligible for Study: 18 Years to 60 Years (Adult)
• Sexes Eligible for Study: Female
• Accepts Healthy Volunteers: No
• Sampling Method: Non-Probability Sample

Study Population

Pregnant women between 10 and 22 weeks of gestation inclusive who have one or more high risk indicators for fetal chromosome 21 aneuploidy.

Criteria

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

Contacts and Locations

  Show 29 Study Locations

Sponsors and Collaborators

Sequenom, Inc.

Investigators

• Study Director: Juan-Sebastian Saldivar, MD; Sequenom Laboratories

More Information

Publications:

Palomaki GE, Deciu C, Kloza EM, Lambert-Messerlian GM, Haddow JE, Neveux LM, Ehrich M, van den Boom D, Bombard AT, Grody WW, Nelson SF, Canick JA. DNA sequencing of maternal plasma reliably identifies trisomy 18 and trisomy 13 as well as Down syndrome: an international collaborative study. Genet Med. 2012 Mar;14(3):296-305. doi: 10.1038/gim.2011.73. Epub 2012 Feb 2.

Palomaki GE, Kloza EM, Lambert-Messerlian GM, Haddow JE, Neveux LM, Ehrich M, van den Boom D, Bombard AT, Deciu C, Grody WW, Nelson SF, Canick JA. DNA sequencing of maternal plasma to detect Down syndrome: an international clinical validation study. Genet Med. 2011 Nov;13(11):913-20. doi: 10.1097/GIM.0b013e3182368a0e.

Ehrich M, Deciu C, Zwiefelhofer T, Tynan JA, Cagasan L, Tim R, Lu V, McCullough R, McCarthy E, Nygren AO, Dean J, Tang L, Hutchison D, Lu T, Wang H, Angkachatchai V, Oeth P, Cantor CR, Bombard A, van den Boom D. Noninvasive detection of fetal trisomy 21 by sequencing of DNA in maternal blood: a study in a clinical setting. Am J Obstet Gynecol. 2011 Mar;204(3):205.e1-11. doi: 10.1016/j.ajog.2010.12.060. Epub 2011 Feb 18.

• Responsible Party: Sequenom, Inc.
• ClinicalTrials.gov Identifier: NCT01555346 History of Changes
• Other Study ID Numbers: SQNM-T21-304
• First Posted: March 15, 2012
• Last Update Posted: April 20, 2016
• Last Verified: April 2016

Keywords provided by Sequenom, Inc.:

Down syndrome; fetal aneuploidy; trisomy; noninvasive prenatal test

Additional relevant MeSH terms:

Down Syndrome; Aneuploidy; Pathologic Processes; Intellectual Disability; Neurobehavioral Manifestations; Neurologic Manifestations; Nervous System Diseases; Abnormalities, Multiple; Congenital Abnormalities; Chromosome Disorders; Genetic Diseases, Inborn; Chromosome Aberrations