Clinical Evaluation of the SEQureDx Trisomy Test in Low Risk Pregnancies

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT01597063
Recruitment Status : Completed
First Posted : May 11, 2012
Last Update Posted : April 20, 2016
Information provided by (Responsible Party):
Sequenom, Inc.

May 9, 2012
May 11, 2012
April 20, 2016
July 2012
February 2014   (Final data collection date for primary outcome measure)
Estimate the false positive rate of SEQureDx Trisomy 21 Test [ Time Frame: pregnancy outcome ]
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Complete list of historical versions of study NCT01597063 on Archive Site
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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.
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Observational Model: Case-Only
Time Perspective: Prospective
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Retention:   Samples With DNA
Whole blood specimens will be collected and processed to plasma. DNA will be extracted from the plasma.
Probability Sample
Pregnant with low risk for fetal chromosome 21 aneuploidy
  • Aneuploidy
  • Down Syndrome
  • Noninvasive Prenatal Screening
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.
low risk pregnancies
Intervention: Device: SEQureDx Trisomy Test

*   Includes publications given by the data provider as well as publications identified by Identifier (NCT Number) in Medline.
December 2015
February 2014   (Final data collection date for primary outcome measure)

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
Sexes Eligible for Study: Female
18 Years to 34 Years   (Adult)
Contact information is only displayed when the study is recruiting subjects
United States
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Plan to Share IPD: Yes
Plan Description: Upon analysis of collected samples and submission for publication, data will be shared as per journal requirements.
Sequenom, Inc.
Sequenom, Inc.
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Study Director: Daniel Grossu, MD Sequenom, Inc.
Sequenom, Inc.
April 2016