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Non-Invasive Screening for Fetal Aneuploidy

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.
 
ClinicalTrials.gov Identifier: NCT00847990
Recruitment Status : Completed
First Posted : February 20, 2009
Last Update Posted : September 5, 2011
Sponsor:
Collaborator:
Obstetrix
Information provided by (Responsible Party):
Sequenom, Inc.

Brief Summary:
The purpose of this study is to determine if a laboratory test developed by the Sequenom Center for Molecular Medicine (SCMM) that uses a new marker found in the mother's blood can better identify pregnancies that have a child with a chromosome abnormality such as Down syndrome (Trisomy 21), Edwards syndrome (Trisomy 18), or other chromosome abnormality.

Condition or disease Intervention/treatment
Down Syndrome Edwards Syndrome Other: Maternal blood screening test for fetal aneuploidy

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Study Type : Observational
Estimated Enrollment : 5000 participants
Observational Model: Case-Only
Time Perspective: Cross-Sectional
Official Title: Non-Invasive Screening for Fetal Aneuploidy: A New Maternal Plasma Marker
Study Start Date : March 2009
Actual Primary Completion Date : April 2011
Actual Study Completion Date : August 2011


Group/Cohort Intervention/treatment
Pregnant women
Pregnant women who are scheduled to undergo an amniocentesis or CVS procedure and will receive the fetal FISH and/or karyotype results from the procedure.
Other: Maternal blood screening test for fetal aneuploidy
One blood draw of 20 to 30 mL




Primary Outcome Measures :
  1. Validate the prenatal aneuploidy LDT with blood samples from pregnant women who are undergoing invasive prenatal diagnosis [ Time Frame: During the 1st and 2nd trimester of pregnancy ]

Biospecimen Retention:   Samples With DNA
plasma, PBMCs


Information from the National Library of Medicine

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Ages Eligible for Study:   18 Years and older   (Adult, Older Adult)
Sexes Eligible for Study:   Female
Accepts Healthy Volunteers:   No
Sampling Method:   Probability Sample
Study Population
Pregnant women who are scheduled to undergo an amniocentesis or CVS procedure and will receive the fetal FISH and/or karyotype results from the procedure.
Criteria

Inclusion Criteria:

  • Subject is willing to provide written informed consent
  • Pregnant female with singleton gestation 18 years of age or older
  • Subject agrees to provide a 20 to 30 mL venous blood sample
  • Subject is one of the following: A) currently scheduled to undergo an amniocentesis and/or CVS procedure, OR B) currently in the first trimester of pregnancy and planning to undergo an amniocentesis in the second trimester
  • Subject will receive results of a genetic analysis that includes evaluation of the fetus for aneuploidy

Exclusion Criteria:

  • Subject lacks the capacity to provide informed consent
  • Twins, triplets or other multiple gestation

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT00847990


Locations
Show Show 25 study locations
Sponsors and Collaborators
Sequenom, Inc.
Obstetrix
Investigators
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Principal Investigator: Richard Porreco, MD Obstetrix Medical Group of Colorado
Study Director: Thomas J Garite, MD Obstetrix

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Responsible Party: Sequenom, Inc.
ClinicalTrials.gov Identifier: NCT00847990    
Other Study ID Numbers: SQNM-T21-301
First Posted: February 20, 2009    Key Record Dates
Last Update Posted: September 5, 2011
Last Verified: September 2011
Keywords provided by Sequenom, Inc.:
Down syndrome
aneuploidy
chromosome abnormality
amniocentesis
chorionic villus sampling
Laboratory Developed Test (LDT)
Additional relevant MeSH terms:
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Down Syndrome
Trisomy 18 Syndrome
Syndrome
Aneuploidy
Disease
Pathologic Processes
Intellectual Disability
Neurobehavioral Manifestations
Neurologic Manifestations
Nervous System Diseases
Abnormalities, Multiple
Congenital Abnormalities
Chromosome Disorders
Genetic Diseases, Inborn
Chromosome Aberrations
Heart Defects, Congenital
Cardiovascular Abnormalities
Cardiovascular Diseases
Heart Diseases