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

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

Study Overview

• Status: Completed
• Conditions: Down Syndrome; Fetal Aneuploidy

• Study Type: Observational
• Enrollment (Actual): 3062

Contacts and Locations

Study Locations

• Canada
  • Ontario
    • Toronto, Ontario, Canada
      • North York General Hospital
  • Quebec
    • Quebec City, Quebec, Canada, G1V 4G2
      • Chuq/Chul
• United States
  • Alabama
    • Mobile, Alabama, United States, 36604-3302
      • University of South Alabama
  • Arizona
    • Tucson, Arizona, United States, 85712
      • Visions Clinical Research Tuscon
  • California
    • Campbell, California, United States, 95008
      • Obstetrix Medical Group of California
    • Long Beach, California, United States, 90806
      • Long Beach Memorial Medical Center
    • Los Angeles, California, United States, 90048
      • Cedars-Sinai Medical Center
    • Monterey Park, California, United States, 91754
      • San Gabriel Valley Perinatal Medical Center
    • San Diego, California, United States, 92130
      • Scripps Clinic Carmel Valley
  • Florida
    • Miami, Florida, United States, 33175
      • South Florida Perinatal
    • Miramar, Florida, United States, 33029
      • Southeast Perinatal Associates - Miramar
    • Sunrise, Florida, United States, 33323
      • Southeast Perinatal Associates - Weston
  • Hawaii
    • Honolulu, Hawaii, United States, 96813
      • Hawaii Pacific Health
  • Iowa
    • Iowa City, Iowa, United States, 52242
      • University of Iowa Health Care
  • Kansas
    • Kansas City, Kansas, United States, 66160
      • University of Kansas Medical Center
  • Kentucky
    • Louisville, Kentucky, United States, 40207
      • Norton Healthcare
  • Louisiana
    • Shreveport, Louisiana, United States, 71118
      • Willis-Knighton Physician Network
  • Maryland
    • Baltimore, Maryland, United States, 21201
      • University of Maryland
  • Michigan
    • Royal Oak, Michigan, United States, 48073
      • William Beaumont Hospital
  • Missouri
    • Kansas City, Missouri, United States, 64111
      • Saint Lukes Hospital of Kansas City
  • New Jersey
    • Neptune, New Jersey, United States, 07753
      • Jersey Shore University Medical Center
    • New Brunswick, New Jersey, United States, 08901
      • Saint Peter's Hospital
    • Sewell, New Jersey, United States, 08080
      • Virtua Health
    • Voorhees, New Jersey, United States, 08043
      • Virtua Health
  • Ohio
    • Cincinnati, Ohio, United States, 45267
      • University of Cincinnati
    • Columbus, Ohio, United States, 43231
      • Complete Healthcare For Women
  • Oklahoma
    • Oklahoma City, Oklahoma, United States, 73104
      • University of Oklahoma Health Sciences Center
  • Tennessee
    • Chatanooga, Tennessee, United States, 37403
      • Regional Obstetrical Consultants
  • Washington
    • Seattle, Washington, United States, 98104
      • Obstetrix Medical Group of Washington, Inc.

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 18 years to 60 years (Adult)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: Female

• 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.

Description

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

Study Plan

How is the study designed?

Number of groups / cohorts

2

Cohorts and Interventions

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.

What is the study measuring?

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.

Collaborators and Investigators

• Sponsor: Sequenom, Inc.
• Investigators: Study Director: Juan-Sebastian Saldivar, MD, Sequenom Laboratories

Publications and helpful links

General Publications

• 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.
• 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.
• 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.

Study record dates

Study Major Dates

• Study Start: March 1, 2012
• Primary Completion (Actual): October 1, 2014
• Study Completion (Actual): December 1, 2015

Study Registration Dates

• First Submitted: February 15, 2012
• First Submitted That Met QC Criteria: March 14, 2012
• First Posted (Estimate): March 15, 2012

Study Record Updates

• Last Update Posted (Estimate): April 20, 2016
• Last Update Submitted That Met QC Criteria: April 18, 2016
• Last Verified: April 1, 2016

More Information

Terms related to this study

• Keywords: Down syndrome; trisomy; fetal aneuploidy; noninvasive prenatal test
• Additional Relevant MeSH Terms: Pathologic Processes; Nervous System Diseases; Neurologic Manifestations; Neurobehavioral Manifestations; Congenital Abnormalities; Genetic Diseases, Inborn; Intellectual Disability; Abnormalities, Multiple; Chromosome Disorders; Chromosome Aberrations; Down Syndrome; Aneuploidy
• Other Study ID Numbers: SQNM-T21-304