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
1 other identifier
observational
3,062
2 countries
29
Brief Summary
Whole blood samples will be collected from high-risk pregnant women to validate the clinical performance of the SEQureDx Trisomy 21 Test.
Trial Health
Trial Health Score
Automated assessment based on enrollment pace, timeline, and geographic reach
participants targeted
Target at P75+ for all trials
Started Mar 2012
Typical duration for all trials
29 active sites
Health score is calculated from publicly available data and should be used for screening purposes only.
Trial Relationships
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Study Timeline
Key milestones and dates
First Submitted
Initial submission to the registry
February 15, 2012
CompletedStudy Start
First participant enrolled
March 1, 2012
CompletedFirst Posted
Study publicly available on registry
March 15, 2012
CompletedPrimary Completion
Last participant's last visit for primary outcome
October 1, 2014
CompletedStudy Completion
Last participant's last visit for all outcomes
December 1, 2015
CompletedApril 20, 2016
April 1, 2016
2.6 years
February 15, 2012
April 18, 2016
Conditions
Keywords
Outcome Measures
Primary Outcomes (1)
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 Outcomes (1)
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.
Study Arms (2)
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.
Eligibility Criteria
Pregnant women between 10 and 22 weeks of gestation inclusive who have one or more high risk indicators for fetal chromosome 21 aneuploidy.
You may qualify if:
- 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
You may not qualify if:
- Fetal demise at the time of the blood draw
- Previous specimen donation under this protocol
Contact the study team to confirm eligibility.
Sponsors & Collaborators
- Sequenom, Inc.lead
Study Sites (29)
University of South Alabama
Mobile, Alabama, 36604-3302, United States
Visions Clinical Research Tuscon
Tucson, Arizona, 85712, United States
Obstetrix Medical Group of California
Campbell, California, 95008, United States
Long Beach Memorial Medical Center
Long Beach, California, 90806, United States
Cedars-Sinai Medical Center
Los Angeles, California, 90048, United States
San Gabriel Valley Perinatal Medical Center
Monterey Park, California, 91754, United States
Scripps Clinic Carmel Valley
San Diego, California, 92130, United States
South Florida Perinatal
Miami, Florida, 33175, United States
Southeast Perinatal Associates - Miramar
Miramar, Florida, 33029, United States
Southeast Perinatal Associates - Weston
Sunrise, Florida, 33323, United States
Hawaii Pacific Health
Honolulu, Hawaii, 96813, United States
University of Iowa Health Care
Iowa City, Iowa, 52242, United States
University of Kansas Medical Center
Kansas City, Kansas, 66160, United States
Norton Healthcare
Louisville, Kentucky, 40207, United States
Willis-Knighton Physician Network
Shreveport, Louisiana, 71118, United States
University of Maryland
Baltimore, Maryland, 21201, United States
William Beaumont Hospital
Royal Oak, Michigan, 48073, United States
Saint Lukes Hospital of Kansas City
Kansas City, Missouri, 64111, United States
Jersey Shore University Medical Center
Neptune City, New Jersey, 07753, United States
Saint Peter's Hospital
New Brunswick, New Jersey, 08901, United States
Virtua Health
Sewell, New Jersey, 08080, United States
Virtua Health
Voorhees Township, New Jersey, 08043, United States
University of Cincinnati
Cincinnati, Ohio, 45267, United States
Complete Healthcare for Women
Columbus, Ohio, 43231, United States
University of Oklahoma Health Sciences Center
Oklahoma City, Oklahoma, 73104, United States
Regional Obstetrical Consultants
Chatanooga, Tennessee, 37403, United States
Obstetrix Medical Group of Washington, Inc.
Seattle, Washington, 98104, United States
North York General Hospital
Toronto, Ontario, Canada
Chuq/Chul
Québec, Quebec, G1V 4G2, Canada
Related Publications (3)
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.
PMID: 22281937BACKGROUNDPalomaki 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.
PMID: 22005709BACKGROUNDEhrich 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.
PMID: 21310373BACKGROUND
Biospecimen
Whole blood specimens will be collected and processed to plasma. DNA will be extracted from the plasma.
MeSH Terms
Conditions
Condition Hierarchy (Ancestors)
Study Officials
- STUDY DIRECTOR
Juan-Sebastian Saldivar, MD
Sequenom Laboratories
Study Design
- Study Type
- observational
- Observational Model
- CASE ONLY
- Time Perspective
- PROSPECTIVE
- Sponsor Type
- INDUSTRY
- Responsible Party
- SPONSOR
Study Record Dates
First Submitted
February 15, 2012
First Posted
March 15, 2012
Study Start
March 1, 2012
Primary Completion
October 1, 2014
Study Completion
December 1, 2015
Last Updated
April 20, 2016
Record last verified: 2016-04