Clinical Evaluation of the SEQureDx Trisomy Test in Low Risk Pregnancies

A Clinical Study to Evaluate the Relative Clinical Specificity Performance of the SEQureDx Trisomy Test in Pregnant Women at Low Risk for Fetal Chromosomal Aneuploidy

Pregnant women with low risk indicators for fetal chromosomal aneuploidy will be enrolled. Study blood will be collected in the first or second trimester at a scheduled prenatal screening visit, processed to plasma, and stored frozen until analysis. Each pregnancy will be followed until delivery and the birth outcome recorded.

Study Overview

• Status: Completed
• Conditions: Down Syndrome; Aneuploidy; Noninvasive Prenatal Screening
• Intervention / Treatment: Device: SEQureDx Trisomy Test

• Study Type: Observational
• Enrollment (Actual): 3333

Contacts and Locations

Study Locations

• United States
  • Alabama
    • Mobile, Alabama, United States, 36604-3302
      • University of South Alabama
  • Arizona
    • Chandler, Arizona, United States, 85224
      • New Horizon Women's Care
    • Phoenix, Arizona, United States, 85032
      • Precision Trials
    • Tucson, Arizona, United States, 85712
      • Visions Clinical Research Tuscon
  • California
    • Glendale, California, United States, 91208
      • Descanso OBGYN
    • Glendora, California, United States, 91740
      • Woodglen Medical Group
    • Los Angeles, California, United States, 91740
      • White Memorial GYN/OB Medical Group
    • Pasadena, California, United States, 91105
      • Fair Oaks Women's Health
    • San Diego, California, United States, 92121
      • IGO Medical Group
    • San Diego, California, United States, 92123
      • West Coast OBGYN
    • San Diego, California, United States, 92123
      • Women's Health Care Research
    • Vista, California, United States, 92081
      • Women's Clinical Research
  • 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
  • Michigan
    • Grand Rapids, Michigan, United States, 49503
      • Spectrum Health - Maternal Fetal Medicine
    • Royal Oak, Michigan, United States, 48073
      • William Beaumont Hospital
  • New Jersey
    • Moorestown, New Jersey, United States, 08057
      • Virtua Health
    • Mt. Holly, New Jersey, United States, 08060
      • Virtua Health
    • 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
    • Dayton, Ohio, United States, 45439
      • Providence Health Partners - Center For Clinical Research
  • Oklahoma
    • Oklahoma City, Oklahoma, United States, 73104
      • University of Oklahoma Health Sciences Center
  • South Carolina
    • Charleston, South Carolina, United States, 29466
      • Medical University of South Carolina
    • Myrtle Beach, South Carolina, United States, 29572
      • Magnolia OB/GYN Research Center- Recruiting

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 18 years to 34 years (Adult)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: Female

• Sampling Method: Probability Sample

Study Population

Pregnant with low risk for fetal chromosome 21 aneuploidy

Description

Inclusion Criteria:

• Pregnancy is 10-22 weeks gestation
• Between 18-34 years of age inclusive at estimated date of delivery
• No prenatal screening indicators for high risk including serum biochemical and ultrasound screening
• No personal or family history of Down syndrome
• Willing to provide written informed consent
• Willing to provide a whole blood sample
• Willing to provide access to medical records supporting fetal outcome

Exclusion Criteria:

• Fetal demise at the time of the blood draw
• Previous specimen donation under this protocol

Study Plan

How is the study designed?

Design Details

• Observational Models: Case-Only
• Time Perspectives: Prospective

Number of groups / cohorts

1

Cohorts and Interventions

Group / Cohort	Intervention / Treatment
low risk pregnancies	Device: SEQureDx Trisomy Test; Plasma samples obtained from maternal blood will be tested using the SEQureDx Trisomy Test, an in vitro diagnostic test that measures circulating cell-free fetal DNA. The test detects the relative quantity of chromosome 21, which is associated with trisomy 21.

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Time Frame
Estimate the false positive rate of SEQureDx Trisomy 21 Test	pregnancy outcome

Collaborators and Investigators

• Sponsor: Sequenom, Inc.
• Investigators: Study Director: Daniel Grossu, MD, Sequenom, Inc.

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: July 1, 2012
• Primary Completion (Actual): February 1, 2014
• Study Completion (Actual): December 1, 2015

Study Registration Dates

• First Submitted: May 9, 2012
• First Submitted That Met QC Criteria: May 10, 2012
• First Posted (Estimate): May 11, 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

• 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; Chromosome Duplication; Down Syndrome; Aneuploidy; Trisomy
• Other Study ID Numbers: SQNM-T21-303

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: Yes
• IPD Plan Description: Upon analysis of collected samples and submission for publication, data will be shared as per journal requirements.